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249M
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465
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stringclasses 5
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stringlengths 12
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⌀ | n_samples
float64 44
1.46k
⌀ | total_samples
float64 43.2k
43.2k
⌀ | freq
float64 0
0.03
⌀ | OMIM
stringlengths 3
10
⌀ | Gene
stringlengths 2
8
⌀ | PMID
float64 1.37M
26.6M
⌀ | AC
float64 1
152k
⌀ | AN
float64 140k
152k
⌀ | AF
float64 0
1
⌀ | MAF
float64 0
0.5
⌀ | MAC
float64 1
76.1k
⌀ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
X | 154,532,390 | G | A | Pathogenic | ClinVar | missense_variant | 93493 | criteria_provided,_multiple_submitters,_no_conflicts | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,532,432 | G | A | Pathogenic | ClinVar | missense_variant | 439743 | criteria_provided,_multiple_submitters,_no_conflicts | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,532,458 | A | C | Pathogenic | ClinVar | missense_variant | 1722686 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,532,569 | T | C | Pathogenic | ClinVar | missense_variant | 1722684 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,532,608 | C | T | Pathogenic | ClinVar | missense_variant | 1722681 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,532,625 | C | T | Pathogenic | ClinVar | missense_variant | 10398 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,532,626 | C | A | Pathogenic | ClinVar | missense_variant | 10378 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,532,628 | G | C | Pathogenic | ClinVar | missense_variant | 1722680 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,532,628 | G | T | Pathogenic | ClinVar | missense_variant | 1722679 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,532,629 | G | A | Pathogenic | ClinVar | missense_variant | 1722678 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,532,634 | T | G | Pathogenic | ClinVar | missense_variant | 1722677 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,532,639 | C | T | Pathogenic | ClinVar | missense_variant | 1722676 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,532,649 | G | T | Pathogenic | ClinVar | missense_variant | 1722675 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,532,662 | C | T | Pathogenic | ClinVar | missense_variant | 804134 | criteria_provided,_multiple_submitters,_no_conflicts | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,532,676 | C | T | Pathogenic | ClinVar | missense_variant | 10370 | criteria_provided,_multiple_submitters,_no_conflicts | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,532,677 | G | C | Pathogenic | ClinVar | missense_variant | 1722672 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,532,694 | C | T | Pathogenic | ClinVar | missense_variant | 10376 | criteria_provided,_multiple_submitters,_no_conflicts | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,532,695 | G | A | Pathogenic | ClinVar | missense_variant | 10396 | criteria_provided,_multiple_submitters,_no_conflicts | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,532,699 | G | C | Pathogenic | ClinVar | missense_variant | 1722671 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,532,701 | A | C | Pathogenic | ClinVar | missense_variant | 1722670 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,532,701 | A | G | Pathogenic | ClinVar | missense_variant | 10377 | criteria_provided,_multiple_submitters,_no_conflicts | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,532,711 | G | C | Pathogenic | ClinVar | missense_variant | 1685831 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,532,715 | A | G | Pathogenic | ClinVar | missense_variant | 1722669 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,532,716 | T | C | Pathogenic | ClinVar | missense_variant | 1722668 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,532,736 | A | G | Pathogenic | ClinVar | missense_variant | 1722667 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,532,752 | C | T | Pathogenic | ClinVar | missense_variant | 10381 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,532,797 | G | A | Pathogenic | ClinVar | missense_variant | 10385 | criteria_provided,_multiple_submitters,_no_conflicts | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,532,990 | C | T | Pathogenic | ClinVar | missense_variant | 10363 | criteria_provided,_multiple_submitters,_no_conflicts | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,533,044 | C | T | Pathogenic | ClinVar | missense_variant | 10401 | criteria_provided,_multiple_submitters,_no_conflicts | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,533,077 | C | T | Pathogenic | ClinVar | missense_variant | 1722647 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,533,592 | T | A | Pathogenic | ClinVar | missense_variant | 445710 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,533,592 | T | C | Pathogenic | ClinVar | missense_variant | 1722664 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,533,613 | G | A | Pathogenic | ClinVar | missense_variant | 1722663 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,534,035 | C | T | Pathogenic | ClinVar | missense_variant | 1722662 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,534,092 | T | C | Pathogenic | ClinVar | missense_variant | 1722661 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,534,125 | C | A | Pathogenic | ClinVar | missense_variant | 10387 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,534,126 | G | A | Pathogenic | ClinVar | missense_variant | 1722659 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,534,389 | C | T | Pathogenic | ClinVar | missense_variant | 10417 | criteria_provided,_multiple_submitters,_no_conflicts | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,534,390 | G | A | Pathogenic | ClinVar | missense_variant | 10391 | criteria_provided,_multiple_submitters,_no_conflicts | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,534,446 | C | T | Pathogenic | ClinVar | missense_variant | 1722657 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,534,463 | G | C | Pathogenic | ClinVar | missense_variant | 1722656 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,534,465 | A | G | Pathogenic | ClinVar | missense_variant | 10407 | criteria_provided,_multiple_submitters,_no_conflicts | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,535,249 | T | G | Pathogenic | ClinVar | missense_variant | 854215 | criteria_provided,_multiple_submitters,_no_conflicts | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,535,270 | A | G | Pathogenic | ClinVar | missense_variant | 93499 | criteria_provided,_multiple_submitters,_no_conflicts | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,535,330 | A | T | Pathogenic | ClinVar | missense_variant | 1685833 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,535,963 | G | A | Pathogenic | ClinVar | missense_variant | 1722652 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,536,032 | C | T | Pathogenic | ClinVar | missense_variant | 10369 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,536,168 | G | C | Pathogenic | ClinVar | missense_variant | 10406 | criteria_provided,_multiple_submitters,_no_conflicts | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,536,169 | C | T | Pathogenic | ClinVar | missense_variant | 1722650 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,546,058 | A | G | Pathogenic | ClinVar | intron_variant,missense_variant | 93504 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,556,216 | T | C | Pathogenic | ClinVar | missense_variant,non-coding_transcript_variant | 916677 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,558,590 | T | G | Pathogenic | ClinVar | intron_variant,missense_variant | 11460 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,558,649 | C | G | Pathogenic | ClinVar | intron_variant,missense_variant | 11469 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,562,904 | C | G | Pathogenic | ClinVar | intron_variant,missense_variant,non-coding_transcript_variant | 11466 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,563,590 | A | C | Pathogenic | ClinVar | missense_variant,non-coding_transcript_variant | 11467 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,563,602 | G | A | Pathogenic | ClinVar | missense_variant,non-coding_transcript_variant | 11468 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,564,418 | A | T | Pathogenic | ClinVar | missense_variant,non-coding_transcript_variant | 11457 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,564,450 | T | C | Pathogenic | ClinVar | missense_variant,non-coding_transcript_variant | 11454 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,564,451 | G | T | Pathogenic | ClinVar | missense_variant,non-coding_transcript_variant | 11456 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,762,824 | C | G | Pathogenic | OMIM | 5’ UTR Mutations | null | null | null | null | null | null | MIM 305000 | DKC1 | 11,379,875 | null | null | null | null | null |
X | 154,765,450 | C | A | Pathogenic | ClinVar | missense_variant,non-coding_transcript_variant | 11594 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,765,465 | T | G | Pathogenic | ClinVar | missense_variant,non-coding_transcript_variant | 11582 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,765,472 | T | C | Pathogenic | ClinVar | missense_variant,non-coding_transcript_variant | 11593 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,765,478 | C | G | Pathogenic | ClinVar | missense_variant,non-coding_transcript_variant | 11584 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,765,505 | C | T | Pathogenic | ClinVar | missense_variant,non-coding_transcript_variant | 11591 | criteria_provided,_multiple_submitters,_no_conflicts | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,765,924 | T | G | Pathogenic | ClinVar | missense_variant,non-coding_transcript_variant | 1782258 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,765,931 | A | G | Pathogenic | ClinVar | missense_variant,non-coding_transcript_variant | 38946 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,765,938 | A | G | Pathogenic | ClinVar | missense_variant,non-coding_transcript_variant | 446380 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,767,358 | G | A | Pathogenic | ClinVar | missense_variant,non-coding_transcript_variant | 2506511 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,773,152 | C | T | Pathogenic | ClinVar | missense_variant,non-coding_transcript_variant | 11587 | criteria_provided,_multiple_submitters,_no_conflicts | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,774,602 | G | A | Pathogenic | ClinVar | missense_variant,non-coding_transcript_variant | 38936 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,774,651 | G | A | Pathogenic | ClinVar | missense_variant,non-coding_transcript_variant | 11586 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,776,193 | C | G | Pathogenic | ClinVar | 3_prime_UTR_variant,missense_variant,non-coding_transcript_variant | 235576 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,837,676 | C | A | Pathogenic | ClinVar | missense_variant | 10109 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,837,685 | C | T | Pathogenic | ClinVar | missense_variant | 10334 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,837,686 | G | A | Pathogenic | ClinVar | missense_variant | 10333 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,837,697 | G | A | Pathogenic | ClinVar | missense_variant | 10332 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,837,698 | G | A | Pathogenic | ClinVar | missense_variant | 10147 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,837,702 | G | C | Pathogenic | ClinVar | missense_variant | 1685781 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,860,464 | A | G | Pathogenic | ClinVar | missense_variant | 973800 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,860,538 | T | C | Pathogenic | ClinVar | missense_variant | 10328 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,860,578 | C | G | Pathogenic | ClinVar | missense_variant | 1285204 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,860,588 | C | A | Pathogenic | ClinVar | missense_variant | 10327 | criteria_provided,_multiple_submitters,_no_conflicts | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,861,755 | A | G | Pathogenic | ClinVar | missense_variant | 626935 | criteria_provided,_multiple_submitters,_no_conflicts | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,861,756 | G | A | Pathogenic | ClinVar | missense_variant | 627359 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,861,758 | C | A | Pathogenic | ClinVar | missense_variant | 10324 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,861,758 | C | T | Pathogenic | ClinVar | missense_variant | 10098 | criteria_provided,_multiple_submitters,_no_conflicts | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,861,759 | G | C | Pathogenic | ClinVar | missense_variant | 10325 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,861,762 | C | T | Pathogenic | ClinVar | missense_variant | 973794 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,861,803 | G | A | Pathogenic | ClinVar | missense_variant | 811281 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,861,810 | C | G | Pathogenic | ClinVar | missense_variant | 10322 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,861,819 | G | C | Pathogenic | ClinVar | missense_variant | 811219 | criteria_provided,_multiple_submitters,_no_conflicts | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,863,103 | A | G | Pathogenic | ClinVar | missense_variant | 10127 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,863,112 | C | T | Pathogenic | ClinVar | missense_variant | 10320 | criteria_provided,_multiple_submitters,_no_conflicts | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,863,113 | G | A | Pathogenic | ClinVar | missense_variant | 10321 | criteria_provided,_multiple_submitters,_no_conflicts | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,863,125 | G | A | Pathogenic | ClinVar | missense_variant | 10318 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,863,139 | G | A | Pathogenic | ClinVar | missense_variant | 10317 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,863,142 | G | T | Pathogenic | ClinVar | missense_variant | 10316 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,863,151 | C | T | Pathogenic | ClinVar | missense_variant | 10315 | criteria_provided,_multiple_submitters,_no_conflicts | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,863,223 | A | C | Pathogenic | ClinVar | missense_variant | 627109 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |