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
7,737,485
G
C
Benign
730882
criteria_provided,_single_submitter
missense_variant
1
7,737,559
G
A
Benign
737821
criteria_provided,_single_submitter
missense_variant
1
7,737,565
A
C
Benign
714195
criteria_provided,_multiple_submitters,_no_conflicts
missense_variant
1
7,737,567
C
G
Benign
2058069
criteria_provided,_single_submitter
missense_variant
1
7,809,893
C
G
Pathogenic
242410
criteria_provided,_single_submitter
missense_variant
1
7,809,900
A
G
Pathogenic
242411
criteria_provided,_single_submitter
missense_variant
1
7,809,908
G
A
Benign
783921
criteria_provided,_single_submitter
missense_variant
1
7,827,174
C
T
Benign
780748
criteria_provided,_single_submitter
missense_variant
1
7,827,202
G
A
Benign
779061
criteria_provided,_single_submitter
missense_variant
1
7,827,439
T
G
Benign
741381
criteria_provided,_single_submitter
missense_variant
1
7,842,676
G
C
Benign
789550
criteria_provided,_single_submitter
missense_variant
1
7,852,915
G
A
Benign
709174
criteria_provided,_single_submitter
missense_variant
1
7,935,030
G
T
Benign
775499
criteria_provided,_single_submitter
missense_variant
1
7,938,214
C
T
Pathogenic
2444021
no_assertion_criteria_provided
missense_variant
1
7,962,863
G
A
Pathogenic
7065
no_assertion_criteria_provided
missense_variant
1
7,965,348
G
T
Pathogenic
7069
no_assertion_criteria_provided
missense_variant
1
7,965,425
G
C
Pathogenic
7067
no_assertion_criteria_provided
missense_variant
1
7,970,963
G
A
Pathogenic
1334459
criteria_provided,_single_submitter
missense_variant
1
7,984,981
T
C
Pathogenic
7064
no_assertion_criteria_provided
missense_variant
1
8,013,883
G
A
Benign
710834
criteria_provided,_single_submitter
missense_variant
1
8,014,127
T
G
Benign
791774
criteria_provided,_single_submitter
missense_variant
1
8,335,500
G
T
Benign
1333148
criteria_provided,_single_submitter
missense_variant
1
8,355,567
T
C
Benign
2150683
criteria_provided,_single_submitter
missense_variant
1
8,356,159
G
A
Pathogenic
1686125
criteria_provided,_single_submitter
missense_variant
1
8,358,216
T
C
Pathogenic
562007
criteria_provided,_single_submitter
missense_variant
1
8,358,230
G
C
Pathogenic
545041
criteria_provided,_single_submitter
missense_variant
1
8,358,232
G
A
Pathogenic
562005
criteria_provided,_single_submitter
missense_variant
1
8,358,235
A
G
Pathogenic
562004
criteria_provided,_single_submitter
missense_variant
1
8,358,238
G
A
Pathogenic
1686749
criteria_provided,_single_submitter
missense_variant
1
8,358,264
G
A
Pathogenic
1254418
criteria_provided,_single_submitter
missense_variant
1
8,358,481
C
A
Benign
2128607
criteria_provided,_single_submitter
missense_variant
1
8,358,481
C
T
Benign
1599420
criteria_provided,_single_submitter
missense_variant
1
8,358,868
T
C
Benign
1935090
criteria_provided,_single_submitter
missense_variant
1
8,358,882
C
G
Benign
1939240
criteria_provided,_single_submitter
missense_variant
1
8,358,888
C
T
Benign
1519139
criteria_provided,_single_submitter
missense_variant
1
8,359,916
C
T
Pathogenic
236216
no_assertion_criteria_provided
missense_variant
1
8,359,926
C
G
Benign
1915407
criteria_provided,_single_submitter
missense_variant
1
8,360,443
G
C
Benign
445630
criteria_provided,_single_submitter
missense_variant
1
8,360,503
C
T
Benign
1694488
criteria_provided,_single_submitter
missense_variant
1
8,360,646
G
A
Benign
976254
criteria_provided,_single_submitter
missense_variant
1
8,422,737
T
C
Benign
711834
criteria_provided,_single_submitter
5_prime_UTR_variant,missense_variant
1
8,466,005
C
T
Benign
2420663
criteria_provided,_single_submitter
missense_variant
1
8,656,003
T
C
Benign
2009763
criteria_provided,_single_submitter
missense_variant
1
8,656,243
G
A
Benign
1627301
criteria_provided,_single_submitter
missense_variant
1
9,013,532
A
T
Benign
775501
criteria_provided,_single_submitter
missense_variant
1
9,023,035
G
T
Benign
780761
criteria_provided,_single_submitter
missense_variant
1
9,047,700
T
C
Benign
771300
criteria_provided,_single_submitter
intron_variant,missense_variant
1
9,245,334
C
T
Benign
735495
criteria_provided,_single_submitter
missense_variant
1
9,245,386
A
C
Benign
1601522
criteria_provided,_single_submitter
missense_variant
1
9,247,017
G
A
Benign
777320
criteria_provided,_single_submitter
missense_variant
1
9,263,569
G
A
Pathogenic
31585
no_assertion_criteria_provided
missense_variant
1
9,263,826
G
A
Benign
1558499
criteria_provided,_single_submitter
missense_variant
1
9,263,851
G
A
Benign
16131
criteria_provided,_multiple_submitters,_no_conflicts
missense_variant
1
9,263,943
A
G
Benign
784929
criteria_provided,_single_submitter
missense_variant
1
9,264,154
C
T
Benign
1600034
criteria_provided,_single_submitter
missense_variant
1
9,264,279
G
A
Benign
787734
criteria_provided,_single_submitter
missense_variant
1
9,264,483
G
A
Benign
2064085
criteria_provided,_single_submitter
missense_variant
1
9,264,760
C
T
Benign
759949
criteria_provided,_single_submitter
missense_variant
1
9,595,907
C
T
Benign
775503
criteria_provided,_single_submitter
missense_variant
1
9,610,680
C
A
Benign
785929
criteria_provided,_single_submitter
missense_variant
1
9,612,988
C
T
Benign
775507
criteria_provided,_single_submitter
missense_variant
1
9,717,064
G
A
Benign
474036
criteria_provided,_multiple_submitters,_no_conflicts
missense_variant
1
9,717,541
C
G
Benign
440066
criteria_provided,_multiple_submitters,_no_conflicts
missense_variant
1
9,719,924
T
C
Pathogenic
132808
no_assertion_criteria_provided
missense_variant
1
9,720,138
A
G
Benign
474023
criteria_provided,_multiple_submitters,_no_conflicts
missense_variant
1
9,720,166
C
T
Benign
709503
criteria_provided,_multiple_submitters,_no_conflicts
missense_variant
1
9,720,790
T
A
Pathogenic
1406866
criteria_provided,_single_submitter
missense_variant
1
9,720,791
A
C
Pathogenic
1457684
criteria_provided,_single_submitter
missense_variant
1
9,726,972
G
A
Pathogenic
88675
criteria_provided,_multiple_submitters,_no_conflicts
missense_variant
1
9,726,985
A
G
Pathogenic
422410
criteria_provided,_multiple_submitters,_no_conflicts
missense_variant
1
9,773,277
A
T
Benign
791146
criteria_provided,_single_submitter
missense_variant
1
9,972,074
A
G
Pathogenic
978252
no_assertion_criteria_provided
initiatior_codon_variant,missense_variant
1
9,972,096
A
C
Benign
798231
criteria_provided,_single_submitter
missense_variant
1
9,972,098
G
A
Pathogenic
37140
criteria_provided,_single_submitter
missense_variant
1
9,975,672
C
T
Pathogenic
982555
criteria_provided,_single_submitter
missense_variant
1
9,975,681
A
G
Pathogenic
972092
criteria_provided,_single_submitter
missense_variant
1
9,975,721
T
C
Pathogenic
1062688
no_assertion_criteria_provided
missense_variant
1
9,982,318
C
G
Pathogenic
37139
no_assertion_criteria_provided
missense_variant
1
9,982,480
C
T
Pathogenic
37133
criteria_provided,_multiple_submitters,_no_conflicts
missense_variant
1
9,982,490
T
C
Pathogenic
813197
criteria_provided,_single_submitter
missense_variant
1
9,982,570
C
T
Pathogenic
845745
criteria_provided,_multiple_submitters,_no_conflicts
missense_variant
1
9,982,571
G
T
Pathogenic
37138
no_assertion_criteria_provided
missense_variant
1
9,982,577
T
C
Pathogenic
464670
criteria_provided,_single_submitter
missense_variant
1
9,982,630
G
A
Pathogenic
37134
criteria_provided,_multiple_submitters,_no_conflicts
missense_variant
1
9,982,678
A
G
Pathogenic
37135
no_assertion_criteria_provided
missense_variant
1
10,135,127
A
G
Benign
778206
criteria_provided,_single_submitter
missense_variant
1
10,258,602
A
T
Pathogenic
4658
no_assertion_criteria_provided
missense_variant
1
10,297,018
T
A
Benign
917102
criteria_provided,_single_submitter
missense_variant
1
10,303,606
G
T
Benign
218862
criteria_provided,_multiple_submitters,_no_conflicts
intron_variant,missense_variant
1
10,321,829
A
G
Benign
240957
criteria_provided,_multiple_submitters,_no_conflicts
missense_variant
1
10,337,509
A
G
Benign
291567
criteria_provided,_multiple_submitters,_no_conflicts
missense_variant
1
10,345,923
T
C
Benign
2445412
criteria_provided,_single_submitter
missense_variant
1
10,368,512
G
A
Benign
240959
criteria_provided,_multiple_submitters,_no_conflicts
missense_variant
1
10,461,512
C
T
Benign
786715
criteria_provided,_single_submitter
3_prime_UTR_variant,missense_variant
1
10,463,076
T
A
Benign
791778
criteria_provided,_single_submitter
missense_variant
1
10,463,569
A
G
Benign
777880
criteria_provided,_single_submitter
missense_variant
1
10,623,109
G
A
Benign
291677
criteria_provided,_multiple_submitters,_no_conflicts
missense_variant
1
10,639,009
G
C
Benign
1294667
criteria_provided,_multiple_submitters,_no_conflicts
missense_variant
1
10,639,068
G
T
Benign
2160262
criteria_provided,_single_submitter
missense_variant
1
10,639,987
A
C
Benign
1599392
criteria_provided,_single_submitter
missense_variant