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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
930,165
G
A
Benign
1164676
criteria_provided,_single_submitter
missense_variant
1
930,204
G
A
Benign
1170208
criteria_provided,_single_submitter
missense_variant
1
930,285
G
A
Benign
1165489
criteria_provided,_single_submitter
missense_variant
1
930,314
C
T
Benign
1170010
criteria_provided,_single_submitter
missense_variant
1
935,779
G
A
Benign
1167937
criteria_provided,_single_submitter
missense_variant
1
939,429
G
C
Benign
1167351
criteria_provided,_single_submitter
intron_variant,missense_variant
1
942,451
T
C
Benign
1166513
criteria_provided,_single_submitter
missense_variant
1
942,930
T
C
Benign
1169836
criteria_provided,_single_submitter
missense_variant
1
942,945
C
T
Benign
1170437
criteria_provided,_single_submitter
missense_variant
1
942,951
C
T
Benign
1170505
criteria_provided,_single_submitter
missense_variant
1
944,001
C
T
Benign
1164573
criteria_provided,_single_submitter
missense_variant
1
944,004
G
A
Benign
1164106
criteria_provided,_single_submitter
missense_variant
1
944,029
C
G
Benign
1168053
criteria_provided,_single_submitter
missense_variant
1
944,101
G
C
Benign
780745
criteria_provided,_single_submitter
missense_variant
1
966,542
G
A
Benign
782833
criteria_provided,_single_submitter
missense_variant
1
966,543
C
A
Benign
782834
criteria_provided,_single_submitter
missense_variant
1
972,895
G
A
Benign
770481
criteria_provided,_single_submitter
missense_variant
1
973,842
G
A
Benign
791106
criteria_provided,_single_submitter
missense_variant
1
976,215
A
G
Pathogenic
1320032
no_assertion_criteria_provided
missense_variant
1
1,014,042
G
A
Benign
475283
criteria_provided,_single_submitter
missense_variant
1
1,014,228
G
A
Benign
402986
criteria_provided,_multiple_submitters,_no_conflicts
missense_variant
1
1,020,183
G
C
Benign
387476
criteria_provided,_multiple_submitters,_no_conflicts
missense_variant
1
1,041,583
A
G
Benign
128291
criteria_provided,_multiple_submitters,_no_conflicts
missense_variant
1
1,044,368
A
T
Benign
128294
criteria_provided,_multiple_submitters,_no_conflicts
missense_variant
1
1,045,751
A
G
Benign
263173
criteria_provided,_multiple_submitters,_no_conflicts
missense_variant
1
1,047,342
A
G
Benign
128299
criteria_provided,_multiple_submitters,_no_conflicts
missense_variant
1
1,048,126
C
T
Benign
128304
criteria_provided,_multiple_submitters,_no_conflicts
missense_variant
1
1,048,900
G
A
Benign
703974
criteria_provided,_single_submitter
missense_variant
1
1,050,446
G
A
Benign
128312
criteria_provided,_multiple_submitters,_no_conflicts
missense_variant
1
1,050,449
G
A
Pathogenic
1284257
no_assertion_criteria_provided
missense_variant
1
1,050,575
G
C
Pathogenic
18241
no_assertion_criteria_provided
missense_variant
1
1,213,738
G
A
Pathogenic
96692
no_assertion_criteria_provided
missense_variant
1
1,214,100
G
A
Benign
474794
criteria_provided,_single_submitter
missense_variant
1
1,232,279
A
G
Pathogenic
60484
criteria_provided,_multiple_submitters,_no_conflicts
initiatior_codon_variant,missense_variant
1
1,232,280
T
C
Pathogenic
1452181
criteria_provided,_single_submitter
initiatior_codon_variant,missense_variant
1
1,232,281
G
A
Pathogenic
2151860
criteria_provided,_single_submitter
initiatior_codon_variant,missense_variant
1
1,232,471
A
G
Pathogenic
60488
no_assertion_criteria_provided
missense_variant
1
1,232,478
C
T
Pathogenic
60489
criteria_provided,_single_submitter
missense_variant
1
1,232,735
C
A
Benign
390636
criteria_provided,_multiple_submitters,_no_conflicts
missense_variant
1
1,232,744
G
A
Pathogenic
60486
no_assertion_criteria_provided
missense_variant
1
1,232,754
C
A
Pathogenic
869983
no_assertion_criteria_provided
missense_variant
1
1,232,800
G
C
Benign
281204
criteria_provided,_multiple_submitters,_no_conflicts
missense_variant
1
1,232,834
T
C
Pathogenic
522415
criteria_provided,_single_submitter
missense_variant
1
1,232,896
C
G
Pathogenic
869985
no_assertion_criteria_provided
missense_variant
1
1,232,897
G
C
Pathogenic
60495
criteria_provided,_single_submitter
missense_variant
1
1,232,927
G
A
Pathogenic
60496
no_assertion_criteria_provided
missense_variant
1
1,233,044
C
T
Pathogenic
996067
criteria_provided,_single_submitter
missense_variant
1
1,233,177
G
C
Pathogenic
60487
no_assertion_criteria_provided
missense_variant
1
1,233,203
T
A
Pathogenic
60491
criteria_provided,_single_submitter
missense_variant
1
1,242,601
C
T
Benign
789547
criteria_provided,_single_submitter
missense_variant
1
1,242,864
G
C
Benign
772646
criteria_provided,_single_submitter
missense_variant
1
1,312,290
C
T
Pathogenic
2506981
no_assertion_criteria_provided
missense_variant
1
1,312,841
G
A
Pathogenic
2506979
no_assertion_criteria_provided
missense_variant
1
1,319,313
G
A
Pathogenic
2506980
no_assertion_criteria_provided
intron_variant,missense_variant
1
1,320,493
C
T
Pathogenic
2506982
no_assertion_criteria_provided
intron_variant,missense_variant
1
1,321,072
C
A
Pathogenic
2506983
no_assertion_criteria_provided
5_prime_UTR_variant,intron_variant,missense_variant
1
1,332,630
G
T
Benign
775486
criteria_provided,_single_submitter
missense_variant
1
1,334,108
G
A
Benign
1222088
criteria_provided,_single_submitter
missense_variant
1
1,336,290
G
A
Benign
2194805
criteria_provided,_single_submitter
missense_variant
1
1,336,404
G
A
Benign
1535754
criteria_provided,_single_submitter
missense_variant
1
1,338,168
T
C
Benign
1364784
criteria_provided,_single_submitter
missense_variant
1
1,338,617
A
T
Benign
1927325
criteria_provided,_single_submitter
missense_variant
1
1,340,312
G
A
Benign
1599156
criteria_provided,_single_submitter
missense_variant
1
1,340,424
G
C
Benign
599454
criteria_provided,_multiple_submitters,_no_conflicts
missense_variant
1
1,341,749
G
C
Benign
1611353
criteria_provided,_single_submitter
missense_variant
1
1,341,803
C
A
Benign
1041254
criteria_provided,_single_submitter
missense_variant
1
1,341,803
C
T
Benign
1169213
criteria_provided,_multiple_submitters,_no_conflicts
missense_variant
1
1,437,393
C
T
Benign
781924
criteria_provided,_single_submitter
missense_variant,synonymous_variant
1
1,439,425
G
C
Benign
1229112
criteria_provided,_single_submitter
3_prime_UTR_variant,missense_variant
1
1,454,394
C
T
Benign
1253304
criteria_provided,_single_submitter
missense_variant
1
1,477,279
G
T
Benign
780746
criteria_provided,_single_submitter
missense_variant
1
1,495,783
G
A
Benign
786444
criteria_provided,_single_submitter
missense_variant
1
1,495,785
C
T
Benign
767642
criteria_provided,_single_submitter
missense_variant
1
1,512,287
A
G
Benign
1675332
criteria_provided,_single_submitter
missense_variant
1
1,516,036
T
G
Pathogenic
828051
no_assertion_criteria_provided
5_prime_UTR_variant,missense_variant
1
1,523,535
C
T
Benign
791764
criteria_provided,_single_submitter
missense_variant
1
1,525,242
T
G
Pathogenic
637018
criteria_provided,_single_submitter
missense_variant
1
1,527,777
G
C
Benign
791767
criteria_provided,_single_submitter
missense_variant
1
1,535,427
C
T
Benign
1235425
criteria_provided,_multiple_submitters,_no_conflicts
missense_variant
1
1,535,616
G
A
Pathogenic
161194
no_assertion_criteria_provided
missense_variant
1
1,535,723
G
A
Pathogenic
161195
criteria_provided,_single_submitter
missense_variant
1
1,626,711
G
A
Benign
780208
criteria_provided,_single_submitter
missense_variant,non-coding_transcript_variant
1
1,757,140
C
A
Benign
791769
criteria_provided,_single_submitter
intron_variant,missense_variant
1
1,759,182
G
A
Benign
716793
criteria_provided,_single_submitter
intron_variant,missense_variant
1
1,759,828
G
A
Benign
716794
criteria_provided,_single_submitter
intron_variant,missense_variant
1
1,790,438
C
T
Benign
1424675
criteria_provided,_single_submitter
missense_variant
1
1,790,444
A
G
Benign
1551623
criteria_provided,_single_submitter
missense_variant
1
1,790,578
C
G
Benign
1610568
criteria_provided,_single_submitter
missense_variant
1
1,793,270
C
T
Benign
1594453
criteria_provided,_single_submitter
missense_variant
1
1,804,475
T
C
Benign
1472005
criteria_provided,_single_submitter
missense_variant
1
1,804,496
T
C
Pathogenic
521213
criteria_provided,_multiple_submitters,_no_conflicts
missense_variant
1
1,804,497
C
A
Pathogenic
812755
criteria_provided,_multiple_submitters,_no_conflicts
missense_variant
1
1,804,502
C
A
Pathogenic
1194565
criteria_provided,_single_submitter
missense_variant
1
1,804,508
C
T
Pathogenic
1315581
no_assertion_criteria_provided
missense_variant
1
1,804,562
C
A
Pathogenic
995962
no_assertion_criteria_provided
5_prime_UTR_variant,missense_variant
1
1,806,503
A
T
Pathogenic
224715
criteria_provided,_multiple_submitters,_no_conflicts
5_prime_UTR_variant,missense_variant
1
1,806,512
C
A
Pathogenic
1315582
no_assertion_criteria_provided
5_prime_UTR_variant,missense_variant
1
1,806,513
C
A
Pathogenic
1700090
criteria_provided,_single_submitter
5_prime_UTR_variant,missense_variant
1
1,806,514
A
T
Pathogenic
1699320
criteria_provided,_single_submitter
5_prime_UTR_variant,missense_variant
1
1,806,515
T
C
Pathogenic
224711
criteria_provided,_multiple_submitters,_no_conflicts
5_prime_UTR_variant,missense_variant
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