chrom
stringclasses 24
values | pos
int64 10.2k
249M
| ref
stringclasses 4
values | alt
stringclasses 4
values | label
stringclasses 4
values | source
stringclasses 4
values | consequence
stringlengths 9
465
| id
stringlengths 1
7
⌀ | review_status
stringclasses 5
values | GENOMIC_MUTATION_ID
stringlengths 12
12
⌀ | 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 | 154,896,093 | G | T | Pathogenic | ClinVar | missense_variant | 10311 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,896,102 | C | G | Pathogenic | ClinVar | missense_variant | 10128 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,896,146 | A | C | Pathogenic | ClinVar | missense_variant | 10309 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,896,187 | C | T | Pathogenic | ClinVar | missense_variant | 973798 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,896,228 | T | C | Pathogenic | ClinVar | missense_variant | 10308 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,899,876 | G | A | Pathogenic | ClinVar | missense_variant | 10307 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,899,946 | A | G | Pathogenic | ClinVar | missense_variant | 10306 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,902,053 | T | C | Pathogenic | ClinVar | missense_variant | 10305 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,902,062 | A | G | Pathogenic | ClinVar | missense_variant | 627347 | criteria_provided,_multiple_submitters,_no_conflicts | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,902,063 | C | T | Pathogenic | ClinVar | missense_variant | 381561 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,902,084 | C | T | Pathogenic | ClinVar | missense_variant | 627346 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,902,099 | C | T | Pathogenic | ClinVar | missense_variant | 1685783 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,902,120 | G | A | Pathogenic | ClinVar | missense_variant | 10304 | criteria_provided,_multiple_submitters,_no_conflicts | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,902,167 | C | A | Pathogenic | ClinVar | missense_variant | 811156 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,903,928 | C | T | Pathogenic | ClinVar | missense_variant | 1685785 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,903,966 | G | A | Pathogenic | ClinVar | missense_variant | 10299 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,903,968 | C | A | Pathogenic | ClinVar | missense_variant | 10298 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,903,986 | T | A | Pathogenic | ClinVar | missense_variant | 627340 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,904,004 | C | T | Pathogenic | ClinVar | missense_variant | 10297 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,904,025 | C | A | Pathogenic | ClinVar | missense_variant | 10295 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,904,049 | A | T | Pathogenic | ClinVar | missense_variant | 1698782 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,904,051 | T | G | Pathogenic | ClinVar | missense_variant | 1803126 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,904,082 | T | C | Pathogenic | ClinVar | missense_variant | 10294 | criteria_provided,_multiple_submitters,_no_conflicts | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,904,083 | T | C | Pathogenic | ClinVar | missense_variant | 10140 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,904,305 | G | A | Pathogenic | ClinVar | missense_variant | 1685786 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,904,401 | C | T | Pathogenic | ClinVar | missense_variant | 10292 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,904,493 | G | C | Pathogenic | ClinVar | missense_variant | 10289 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,904,506 | C | T | Pathogenic | ClinVar | missense_variant | 618640 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,904,511 | T | C | Pathogenic | ClinVar | missense_variant | 10288 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,904,518 | C | A | Pathogenic | ClinVar | missense_variant | 10287 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,904,518 | C | T | Pathogenic | ClinVar | missense_variant | 10286 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,904,839 | G | A | Pathogenic | ClinVar | missense_variant | 10284 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,904,864 | T | G | Pathogenic | ClinVar | missense_variant | 10282 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,904,871 | C | T | Pathogenic | ClinVar | missense_variant | 10280 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,904,989 | G | T | Pathogenic | ClinVar | missense_variant | 10277 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,904,998 | C | T | Pathogenic | ClinVar | missense_variant | 10274 | criteria_provided,_multiple_submitters,_no_conflicts | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,904,999 | G | A | Pathogenic | ClinVar | missense_variant | 10275 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,904,999 | G | C | Pathogenic | ClinVar | missense_variant | 10276 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,905,016 | A | T | Pathogenic | ClinVar | missense_variant | 1685788 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,906,421 | A | G | Pathogenic | ClinVar | missense_variant | 10148 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,906,457 | C | T | Pathogenic | ClinVar | missense_variant | 10273 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,906,458 | C | T | Pathogenic | ClinVar | missense_variant | 1330579 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,906,468 | C | G | Pathogenic | ClinVar | missense_variant | 10272 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,906,470 | A | C | Pathogenic | ClinVar | missense_variant | 10271 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,906,488 | C | T | Pathogenic | ClinVar | missense_variant | 10270 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,906,502 | T | C | Pathogenic | ClinVar | missense_variant | 1685789 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,928,604 | C | T | Pathogenic | ClinVar | missense_variant | 439677 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,928,607 | T | C | Pathogenic | ClinVar | missense_variant | 10116 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,928,623 | C | T | Pathogenic | ClinVar | missense_variant | 10146 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,928,646 | C | T | Pathogenic | ClinVar | missense_variant | 1685790 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,928,668 | G | A | Pathogenic | ClinVar | missense_variant | 10114 | criteria_provided,_multiple_submitters,_no_conflicts | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,928,694 | T | A | Pathogenic | ClinVar | missense_variant | 10115 | criteria_provided,_multiple_submitters,_no_conflicts | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,929,259 | C | T | Pathogenic | ClinVar | missense_variant | 1685793 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,929,691 | T | A | Pathogenic | ClinVar | missense_variant | 1685794 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,929,804 | C | T | Pathogenic | ClinVar | missense_variant | 1685795 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,929,954 | C | T | Pathogenic | ClinVar | missense_variant | 1685796 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,930,089 | T | A | Pathogenic | ClinVar | missense_variant | 1285022 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,931,575 | C | T | Pathogenic | ClinVar | missense_variant | 10247 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,931,623 | C | T | Pathogenic | ClinVar | missense_variant | 10246 | criteria_provided,_multiple_submitters,_no_conflicts | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,931,627 | C | A | Pathogenic | ClinVar | missense_variant | 1699285 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,931,628 | A | G | Pathogenic | ClinVar | missense_variant | 1330871 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,931,640 | C | A | Pathogenic | ClinVar | missense_variant | 1677257 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,947,763 | T | C | Pathogenic | ClinVar | missense_variant | 1330638 | criteria_provided,_multiple_submitters,_no_conflicts | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,947,767 | C | A | Pathogenic | ClinVar | missense_variant | 592086 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,947,768 | C | G | Pathogenic | ClinVar | missense_variant | 627033 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,947,782 | A | G | Pathogenic | ClinVar | missense_variant | 10244 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,947,823 | G | A | Pathogenic | ClinVar | missense_variant | 10242 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,947,853 | A | G | Pathogenic | ClinVar | missense_variant | 10239 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,947,854 | C | T | Pathogenic | ClinVar | missense_variant | 10240 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,953,903 | T | C | Pathogenic | ClinVar | missense_variant | 10237 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,953,961 | G | A | Pathogenic | ClinVar | missense_variant | 10236 | criteria_provided,_multiple_submitters,_no_conflicts | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,953,981 | T | G | Pathogenic | ClinVar | missense_variant | 10235 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,953,983 | C | G | Pathogenic | ClinVar | missense_variant | 10234 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,953,987 | C | A | Pathogenic | ClinVar | missense_variant | 10233 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,954,011 | A | G | Pathogenic | ClinVar | missense_variant | 973806 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,954,041 | A | G | Pathogenic | ClinVar | missense_variant | 10149 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,956,959 | G | T | Pathogenic | ClinVar | missense_variant | 10230 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,956,979 | G | A | Pathogenic | ClinVar | missense_variant | 10229 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,956,980 | A | G | Pathogenic | ClinVar | missense_variant | 10231 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,957,013 | G | A | Pathogenic | ClinVar | missense_variant | 1679506 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,957,027 | T | C | Pathogenic | ClinVar | missense_variant | 10227 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,957,060 | C | T | Pathogenic | ClinVar | missense_variant | 10225 | criteria_provided,_multiple_submitters,_no_conflicts | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,957,061 | G | A | Pathogenic | ClinVar | missense_variant | 10223 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,957,079 | C | T | Pathogenic | ClinVar | missense_variant | 10221 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,957,088 | T | A | Pathogenic | ClinVar | missense_variant | 627254 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,957,120 | T | C | Pathogenic | ClinVar | missense_variant | 439676 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,961,120 | C | T | Pathogenic | ClinVar | missense_variant | 10217 | criteria_provided,_multiple_submitters,_no_conflicts | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,961,131 | A | G | Pathogenic | ClinVar | missense_variant | 10216 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,965,995 | T | C | Pathogenic | ClinVar | missense_variant | 10215 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,965,996 | A | G | Pathogenic | ClinVar | missense_variant | 10214 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,966,049 | A | C | Pathogenic | ClinVar | missense_variant | 626992 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,966,065 | A | T | Pathogenic | ClinVar | missense_variant | 10213 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,966,082 | T | C | Pathogenic | ClinVar | missense_variant | 10212 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,966,097 | C | A | Pathogenic | ClinVar | missense_variant | 1330920 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,966,120 | C | A | Pathogenic | ClinVar | missense_variant | 10210 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,966,471 | T | C | Pathogenic | ClinVar | missense_variant | 10209 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,966,483 | A | C | Pathogenic | ClinVar | missense_variant | 10208 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,966,523 | A | G | Pathogenic | ClinVar | missense_variant | 10206 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,966,525 | C | T | Pathogenic | ClinVar | missense_variant | 10111 | criteria_provided,_multiple_submitters,_no_conflicts | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,966,526 | G | A | Pathogenic | ClinVar | missense_variant | 10125 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |