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
10,649,412
C
T
Benign
1599237
criteria_provided,_single_submitter
missense_variant
1
10,653,593
C
T
Benign
717999
criteria_provided,_single_submitter
missense_variant
1
10,653,940
G
A
Benign
2037442
criteria_provided,_single_submitter
missense_variant
1
10,660,197
G
A
Benign
709353
criteria_provided,_single_submitter
missense_variant
1
10,660,248
A
G
Benign
769503
criteria_provided,_multiple_submitters,_no_conflicts
missense_variant
1
10,665,136
G
A
Benign
1659621
criteria_provided,_single_submitter
missense_variant
1
10,665,356
G
A
Benign
784930
criteria_provided,_single_submitter
missense_variant
1
10,665,412
G
A
Benign
774276
criteria_provided,_single_submitter
missense_variant
1
10,665,530
C
A
Benign
782357
criteria_provided,_single_submitter
missense_variant
1
10,665,530
C
T
Benign
1651971
criteria_provided,_single_submitter
missense_variant
1
10,948,070
C
T
Benign
786448
criteria_provided,_single_submitter
missense_variant
1
11,018,836
A
G
Pathogenic
5233
no_assertion_criteria_provided
missense_variant
1
11,022,196
A
G
Pathogenic
5238
no_assertion_criteria_provided
missense_variant
1
11,022,290
G
T
Pathogenic
21484
criteria_provided,_multiple_submitters,_no_conflicts
missense_variant
1
11,022,292
G
A
Pathogenic
21485
no_assertion_criteria_provided
missense_variant
1
11,022,301
G
A
Pathogenic
5232
criteria_provided,_multiple_submitters,_no_conflicts
missense_variant
1
11,022,352
G
A
Pathogenic
5236
criteria_provided,_multiple_submitters,_no_conflicts
missense_variant
1
11,022,400
C
A
Pathogenic
5229
no_assertion_criteria_provided
missense_variant
1
11,022,418
A
G
Pathogenic
5228
criteria_provided,_multiple_submitters,_no_conflicts
missense_variant
1
11,022,437
A
G
Pathogenic
5235
no_assertion_criteria_provided
missense_variant
1
11,022,444
C
A
Pathogenic
21467
criteria_provided,_single_submitter
missense_variant
1
11,022,452
G
T
Pathogenic
266064
criteria_provided,_single_submitter
missense_variant
1
11,022,577
A
G
Pathogenic
21477
criteria_provided,_single_submitter
missense_variant
1
11,030,840
A
G
Benign
291785
criteria_provided,_single_submitter
missense_variant
1
11,030,859
C
A
Benign
291786
criteria_provided,_multiple_submitters,_no_conflicts
missense_variant
1
11,042,883
G
A
Benign
729733
criteria_provided,_multiple_submitters,_no_conflicts
missense_variant
1
11,045,482
T
C
Benign
291801
criteria_provided,_multiple_submitters,_no_conflicts
missense_variant
1
11,045,488
T
C
Benign
873963
criteria_provided,_single_submitter
missense_variant
1
11,046,591
G
A
Benign
291807
criteria_provided,_single_submitter
missense_variant
1
11,046,598
C
T
Benign
708053
criteria_provided,_single_submitter
missense_variant
1
11,046,672
C
T
Benign
291808
criteria_provided,_multiple_submitters,_no_conflicts
missense_variant
1
11,047,087
G
A
Benign
716795
criteria_provided,_single_submitter
missense_variant
1
11,108,275
A
C
Benign
856026
criteria_provided,_single_submitter
missense_variant
1
11,109,317
T
A
Pathogenic
981176
criteria_provided,_single_submitter
missense_variant
1
11,109,661
T
C
Benign
1400083
criteria_provided,_single_submitter
missense_variant
1
11,109,672
A
G
Benign
2101181
criteria_provided,_single_submitter
missense_variant
1
11,109,694
G
T
Benign
2425307
criteria_provided,_single_submitter
missense_variant
1
11,112,863
C
T
Benign
1370863
criteria_provided,_single_submitter
missense_variant
1
11,114,338
A
G
Pathogenic
417723
reviewed_by_expert_panel
missense_variant
1
11,114,338
A
T
Pathogenic
417724
no_assertion_criteria_provided
missense_variant
1
11,114,363
C
T
Pathogenic
156709
criteria_provided,_single_submitter
missense_variant
1
11,114,380
C
A
Pathogenic
520633
criteria_provided,_single_submitter
missense_variant
1
11,114,402
C
T
Pathogenic
626213
criteria_provided,_multiple_submitters,_no_conflicts
missense_variant
1
11,117,039
C
T
Pathogenic
242349
criteria_provided,_multiple_submitters,_no_conflicts
missense_variant
1
11,122,047
C
T
Benign
941305
criteria_provided,_single_submitter
missense_variant
1
11,124,516
G
A
Pathogenic
156703
reviewed_by_expert_panel
missense_variant
1
11,124,516
G
T
Pathogenic
376129
reviewed_by_expert_panel
missense_variant
1
11,127,696
A
C
Benign
1902558
criteria_provided,_single_submitter
missense_variant
1
11,128,009
T
C
Benign
664023
criteria_provided,_single_submitter
missense_variant
1
11,128,018
G
C
Benign
640905
criteria_provided,_single_submitter
missense_variant
1
11,128,033
T
C
Benign
1167045
criteria_provided,_single_submitter
missense_variant
1
11,128,107
G
A
Pathogenic
584432
criteria_provided,_multiple_submitters,_no_conflicts
missense_variant
1
11,128,107
G
C
Pathogenic
1296989
reviewed_by_expert_panel
missense_variant
1
11,128,107
G
T
Pathogenic
156702
reviewed_by_expert_panel
missense_variant
1
11,129,783
C
T
Benign
960437
criteria_provided,_single_submitter
missense_variant
1
11,130,533
G
C
Benign
833590
criteria_provided,_single_submitter
missense_variant
1
11,130,561
T
A
Benign
970513
criteria_provided,_single_submitter
missense_variant
1
11,130,575
G
A
Benign
833701
criteria_provided,_single_submitter
missense_variant
1
11,130,582
C
T
Benign
661251
criteria_provided,_single_submitter
missense_variant
1
11,130,621
T
G
Benign
1667431
criteria_provided,_single_submitter
missense_variant
1
11,130,627
T
C
Benign
1037646
criteria_provided,_single_submitter
missense_variant
1
11,130,636
C
A
Benign
857234
criteria_provided,_single_submitter
missense_variant
1
11,130,636
C
T
Benign
1168153
criteria_provided,_single_submitter
missense_variant
1
11,130,648
C
T
Benign
408300
criteria_provided,_single_submitter
missense_variant
1
11,130,669
T
C
Benign
833870
criteria_provided,_single_submitter
missense_variant
1
11,130,686
T
C
Benign
1165900
criteria_provided,_single_submitter
missense_variant
1
11,130,697
C
G
Benign
1589209
criteria_provided,_single_submitter
missense_variant
1
11,130,708
C
T
Benign
1166081
criteria_provided,_single_submitter
missense_variant
1
11,130,747
C
T
Pathogenic
217823
criteria_provided,_multiple_submitters,_no_conflicts
missense_variant
1
11,133,090
C
T
Benign
833730
criteria_provided,_single_submitter
missense_variant
1
11,133,109
C
A
Benign
1996925
criteria_provided,_single_submitter
missense_variant
1
11,133,154
T
C
Benign
1601267
criteria_provided,_single_submitter
missense_variant
1
11,134,463
C
T
Benign
1041101
criteria_provided,_single_submitter
missense_variant
1
11,139,333
T
C
Benign
1168315
criteria_provided,_single_submitter
missense_variant
1
11,139,356
T
C
Benign
939937
criteria_provided,_single_submitter
missense_variant
1
11,139,591
T
C
Benign
661529
criteria_provided,_single_submitter
missense_variant
1
11,144,670
T
C
Benign
2036193
criteria_provided,_single_submitter
missense_variant,non-coding_transcript_variant
1
11,144,683
C
G
Benign
1600143
criteria_provided,_single_submitter
missense_variant,non-coding_transcript_variant
1
11,144,735
C
T
Pathogenic
224088
criteria_provided,_single_submitter
missense_variant,non-coding_transcript_variant
1
11,146,739
A
T
Benign
856486
criteria_provided,_single_submitter
missense_variant
1
11,150,174
T
A
Benign
833820
criteria_provided,_single_submitter
missense_variant
1
11,150,221
T
C
Benign
1021836
criteria_provided,_single_submitter
missense_variant
1
11,150,224
C
T
Benign
934040
criteria_provided,_single_submitter
missense_variant
1
11,157,173
C
A
Pathogenic
190121
criteria_provided,_single_submitter
missense_variant
1
11,157,173
C
T
Pathogenic
376453
reviewed_by_expert_panel
missense_variant
1
11,157,174
A
G
Pathogenic
374796
reviewed_by_expert_panel
missense_variant
1
11,157,201
G
A
Benign
1523768
criteria_provided,_single_submitter
missense_variant
1
11,157,209
T
C
Benign
1168465
criteria_provided,_single_submitter
missense_variant
1
11,157,211
G
C
Benign
1599642
criteria_provided,_single_submitter
missense_variant
1
11,157,212
T
C
Benign
2145273
criteria_provided,_single_submitter
missense_variant
1
11,157,242
A
G
Pathogenic
376130
reviewed_by_expert_panel
missense_variant
1
11,157,255
A
C
Pathogenic
417727
no_assertion_criteria_provided
missense_variant
1
11,193,627
G
T
Benign
1701093
criteria_provided,_single_submitter
intron_variant,missense_variant
1
11,209,322
T
C
Benign
783153
criteria_provided,_single_submitter
missense_variant
1
11,209,395
C
T
Benign
1599074
criteria_provided,_single_submitter
missense_variant
1
11,210,840
C
T
Benign
642006
criteria_provided,_single_submitter
missense_variant
1
11,210,875
A
G
Benign
1000006
criteria_provided,_single_submitter
missense_variant
1
11,212,361
G
C
Benign
2008316
criteria_provided,_single_submitter
missense_variant
1
11,212,398
T
C
Benign
749449
criteria_provided,_single_submitter
missense_variant
1
11,212,472
G
A
Benign
703170
criteria_provided,_single_submitter
missense_variant