chrom
stringclasses
24 values
pos
int64
45.7k
248M
ref
stringclasses
4 values
alt
stringclasses
4 values
label
stringclasses
2 values
id
stringlengths
1
7
review_status
stringclasses
5 values
consequence
stringclasses
77 values
1
1,815,796
G
C
Pathogenic
1321652
criteria_provided,_single_submitter
intron_variant,missense_variant
1
1,817,857
C
T
Benign
2076600
criteria_provided,_single_submitter
intron_variant,missense_variant
1
1,916,758
G
C
Benign
783273
criteria_provided,_single_submitter
missense_variant
1
1,923,833
C
G
Pathogenic
2443734
no_assertion_criteria_provided
missense_variant
1
1,927,024
C
T
Pathogenic
2443732
no_assertion_criteria_provided
missense_variant
1
1,970,722
C
T
Pathogenic
2443731
no_assertion_criteria_provided
missense_variant
1
1,974,047
G
A
Pathogenic
2443733
no_assertion_criteria_provided
missense_variant
1
2,029,197
C
G
Pathogenic
1805963
criteria_provided,_single_submitter
missense_variant
1
2,055,515
G
A
Benign
714063
criteria_provided,_single_submitter
missense_variant
1
2,228,825
C
T
Pathogenic
409969
criteria_provided,_single_submitter
missense_variant
1
2,228,828
T
G
Pathogenic
224869
criteria_provided,_single_submitter
missense_variant
1
2,228,848
T
A
Pathogenic
2202692
criteria_provided,_single_submitter
missense_variant
1
2,228,857
T
C
Pathogenic
692060
criteria_provided,_single_submitter
missense_variant
1
2,228,860
C
G
Pathogenic
37259
criteria_provided,_multiple_submitters,_no_conflicts
missense_variant
1
2,228,866
G
C
Pathogenic
2225761
criteria_provided,_single_submitter
missense_variant
1
2,228,866
G
T
Pathogenic
37262
criteria_provided,_multiple_submitters,_no_conflicts
missense_variant
1
2,228,867
G
A
Pathogenic
37260
criteria_provided,_single_submitter
missense_variant
1
2,228,867
G
T
Pathogenic
39783
criteria_provided,_single_submitter
missense_variant
1
2,228,869
C
T
Pathogenic
39786
criteria_provided,_multiple_submitters,_no_conflicts
missense_variant
1
2,229,031
C
T
Pathogenic
944376
criteria_provided,_single_submitter
missense_variant
1
2,406,526
G
C
Pathogenic
6771
no_assertion_criteria_provided
missense_variant,non-coding_transcript_variant
1
2,406,569
C
G
Pathogenic
1686018
criteria_provided,_single_submitter
missense_variant,non-coding_transcript_variant
1
2,408,617
C
T
Benign
559056
criteria_provided,_multiple_submitters,_no_conflicts
initiatior_codon_variant,missense_variant,non-coding_transcript_variant
1
2,408,720
A
G
Benign
559058
criteria_provided,_multiple_submitters,_no_conflicts
5_prime_UTR_variant,missense_variant,non-coding_transcript_variant
1
2,412,501
A
G
Pathogenic
162434
criteria_provided,_multiple_submitters,_no_conflicts
initiatior_codon_variant,intron_variant,missense_variant
1
2,412,502
T
A
Pathogenic
1410903
criteria_provided,_single_submitter
initiatior_codon_variant,intron_variant,missense_variant
1
2,476,671
G
C
Benign
779852
criteria_provided,_single_submitter
5_prime_UTR_variant,intron_variant,missense_variant
1
2,479,937
G
A
Benign
713841
criteria_provided,_single_submitter
missense_variant
1
2,504,320
G
A
Benign
787198
criteria_provided,_single_submitter
3_prime_UTR_variant,missense_variant
1
2,591,973
C
T
Benign
737413
criteria_provided,_single_submitter
missense_variant
1
2,604,193
T
C
Benign
712823
criteria_provided,_single_submitter
missense_variant
1
2,605,602
T
G
Benign
727107
criteria_provided,_single_submitter
missense_variant
1
3,411,763
G
T
Benign
474407
criteria_provided,_multiple_submitters,_no_conflicts
missense_variant
1
3,411,794
T
C
Benign
227026
criteria_provided,_multiple_submitters,_no_conflicts
missense_variant
1
3,414,616
T
C
Pathogenic
60729
no_assertion_criteria_provided
missense_variant
1
3,426,071
C
T
Benign
227034
criteria_provided,_multiple_submitters,_no_conflicts
missense_variant
1
3,430,888
G
A
Benign
60727
criteria_provided,_multiple_submitters,_no_conflicts
missense_variant
1
3,478,438
T
C
Benign
780210
criteria_provided,_single_submitter
missense_variant
1
3,490,548
C
T
Benign
786447
criteria_provided,_single_submitter
missense_variant
1
3,495,901
C
T
Benign
719697
criteria_provided,_single_submitter
missense_variant
1
3,498,793
C
T
Benign
710836
criteria_provided,_single_submitter
missense_variant
1
3,499,609
G
A
Benign
720893
criteria_provided,_single_submitter
missense_variant
1
3,501,198
C
T
Benign
712404
criteria_provided,_single_submitter
missense_variant
1
3,501,835
G
A
Benign
785924
criteria_provided,_single_submitter
missense_variant
1
3,514,574
C
A
Benign
711682
criteria_provided,_single_submitter
missense_variant
1
3,515,461
C
T
Benign
785926
criteria_provided,_single_submitter
missense_variant
1
3,602,598
G
A
Benign
791772
criteria_provided,_single_submitter
missense_variant
1
3,727,758
G
A
Benign
714065
criteria_provided,_single_submitter
missense_variant
1
3,752,792
G
A
Benign
788937
criteria_provided,_single_submitter
missense_variant
1
3,823,181
C
T
Benign
1168388
criteria_provided,_single_submitter
missense_variant
1
3,826,391
G
A
Benign
1165705
criteria_provided,_single_submitter
missense_variant
1
3,829,360
G
A
Benign
1170301
criteria_provided,_multiple_submitters,_no_conflicts
missense_variant
1
3,836,499
G
T
Benign
1274595
criteria_provided,_single_submitter
missense_variant
1
3,836,572
A
T
Benign
1166783
criteria_provided,_multiple_submitters,_no_conflicts
missense_variant
1
4,711,974
C
T
Benign
787731
criteria_provided,_single_submitter
missense_variant
1
4,712,475
G
A
Benign
778204
criteria_provided,_single_submitter
missense_variant
1
5,867,109
G
A
Benign
220304
criteria_provided,_multiple_submitters,_no_conflicts
missense_variant,non-coding_transcript_variant
1
5,874,557
G
A
Benign
1599216
criteria_provided,_single_submitter
missense_variant,non-coding_transcript_variant
1
5,874,946
A
G
Pathogenic
3402
no_assertion_criteria_provided
missense_variant,non-coding_transcript_variant
1
5,877,098
C
T
Benign
260550
criteria_provided,_multiple_submitters,_no_conflicts
missense_variant,non-coding_transcript_variant
1
5,904,794
C
T
Benign
194659
criteria_provided,_multiple_submitters,_no_conflicts
missense_variant,non-coding_transcript_variant
1
5,909,165
G
C
Benign
215518
criteria_provided,_multiple_submitters,_no_conflicts
intron_variant,missense_variant,non-coding_transcript_variant
1
5,986,168
G
A
Benign
1626035
criteria_provided,_single_submitter
5_prime_UTR_variant,intron_variant,missense_variant,non-coding_transcript_variant
1
5,986,204
G
A
Benign
260561
criteria_provided,_multiple_submitters,_no_conflicts
5_prime_UTR_variant,intron_variant,missense_variant,non-coding_transcript_variant
1
6,218,354
A
G
Benign
1274153
criteria_provided,_single_submitter
missense_variant
1
6,250,564
C
T
Benign
783275
criteria_provided,_single_submitter
missense_variant
1
6,254,688
C
T
Benign
783276
criteria_provided,_single_submitter
missense_variant
1
6,425,205
G
T
Benign
668259
criteria_provided,_multiple_submitters,_no_conflicts
missense_variant
1
6,440,656
C
G
Benign
508587
criteria_provided,_multiple_submitters,_no_conflicts
missense_variant
1
6,444,559
C
T
Benign
178607
criteria_provided,_multiple_submitters,_no_conflicts
missense_variant
1
6,445,735
C
T
Benign
1228456
criteria_provided,_multiple_submitters,_no_conflicts
missense_variant
1
6,445,736
G
A
Benign
676419
criteria_provided,_multiple_submitters,_no_conflicts
missense_variant
1
6,448,812
C
T
Benign
508563
criteria_provided,_multiple_submitters,_no_conflicts
intron_variant,missense_variant
1
6,448,885
C
T
Benign
445819
criteria_provided,_multiple_submitters,_no_conflicts
intron_variant,missense_variant
1
6,449,070
C
T
Benign
1182246
criteria_provided,_multiple_submitters,_no_conflicts
missense_variant
1
6,451,926
A
C
Pathogenic
4420
no_assertion_criteria_provided
missense_variant
1
6,452,092
G
A
Pathogenic
4422
no_assertion_criteria_provided
missense_variant
1
6,468,009
C
G
Benign
287488
criteria_provided,_multiple_submitters,_no_conflicts
intron_variant,missense_variant
1
6,468,242
T
C
Benign
235230
criteria_provided,_multiple_submitters,_no_conflicts
missense_variant
1
6,468,260
C
T
Benign
287487
criteria_provided,_multiple_submitters,_no_conflicts
missense_variant
1
6,468,408
C
T
Benign
285567
criteria_provided,_multiple_submitters,_no_conflicts
missense_variant
1
6,471,064
T
C
Benign
297958
criteria_provided,_multiple_submitters,_no_conflicts
missense_variant
1
6,471,529
C
T
Benign
297959
criteria_provided,_multiple_submitters,_no_conflicts
missense_variant
1
6,473,333
G
C
Benign
198895
criteria_provided,_multiple_submitters,_no_conflicts
missense_variant
1
6,473,355
C
T
Benign
198896
criteria_provided,_multiple_submitters,_no_conflicts
missense_variant
1
6,475,089
A
G
Benign
297975
criteria_provided,_multiple_submitters,_no_conflicts
missense_variant
1
6,485,330
A
T
Benign
380863
criteria_provided,_single_submitter
intron_variant,missense_variant
1
6,574,673
C
G
Benign
709202
criteria_provided,_single_submitter
intron_variant,missense_variant
1
6,575,249
C
A
Benign
775497
criteria_provided,_single_submitter
intron_variant,missense_variant
1
6,578,865
C
T
Benign
767648
criteria_provided,_single_submitter
missense_variant
1
6,578,866
G
A
Benign
775498
criteria_provided,_single_submitter
missense_variant
1
7,249,591
G
A
Pathogenic
1691186
criteria_provided,_single_submitter
missense_variant
1
7,249,592
A
G
Pathogenic
1342309
no_assertion_criteria_provided
missense_variant
1
7,249,611
G
C
Pathogenic
973014
criteria_provided,_single_submitter
missense_variant
1
7,664,159
T
A
Benign
732186
criteria_provided,_single_submitter
missense_variant
1
7,664,637
C
T
Benign
712671
criteria_provided,_single_submitter
missense_variant
1
7,732,460
G
A
Benign
788497
criteria_provided,_single_submitter
5_prime_UTR_variant,missense_variant
1
7,737,443
C
G
Benign
128565
criteria_provided,_multiple_submitters,_no_conflicts
missense_variant
1
7,737,468
G
A
Benign
2170333
criteria_provided,_single_submitter
missense_variant
1
7,737,474
C
T
Benign
770110
criteria_provided,_single_submitter
missense_variant