ClinVar Miner

List of variants in gene ATP7B reported as likely benign for Wilson disease

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 107
Download table as spreadsheet
HGVS dbSNP
NM_000053.4(ATP7B):c.*1009G>A rs79747858
NM_000053.4(ATP7B):c.*15C>T rs73498144
NM_000053.4(ATP7B):c.*1744C>T
NM_000053.4(ATP7B):c.-54G>T rs115564351
NM_000053.4(ATP7B):c.1015A>C (p.Arg339=) rs768698497
NM_000053.4(ATP7B):c.1122C>G (p.Val374=) rs201254466
NM_000053.4(ATP7B):c.1172C>T (p.Ser391Leu) rs750724856
NM_000053.4(ATP7B):c.1173G>A (p.Ser391=) rs200431213
NM_000053.4(ATP7B):c.1278C>T (p.Val426=) rs143556945
NM_000053.4(ATP7B):c.1362A>G (p.Thr454=) rs150018860
NM_000053.4(ATP7B):c.1401T>G (p.Pro467=) rs529527733
NM_000053.4(ATP7B):c.1426G>A (p.Ala476Thr) rs139289704
NM_000053.4(ATP7B):c.1461G>A (p.Pro487=) rs372068316
NM_000053.4(ATP7B):c.15G>A (p.Glu5=) rs751634415
NM_000053.4(ATP7B):c.1607T>C (p.Val536Ala) rs138427376
NM_000053.4(ATP7B):c.1686C>T (p.Ser562=) rs138962570
NM_000053.4(ATP7B):c.1694A>G (p.Asn565Ser) rs778475094
NM_000053.4(ATP7B):c.1707+29dup rs113829533
NM_000053.4(ATP7B):c.1728G>A (p.Ala576=) rs116703544
NM_000053.4(ATP7B):c.1830G>A (p.Pro610=) rs375689672
NM_000053.4(ATP7B):c.1839C>T (p.Ile613=) rs370476756
NM_000053.4(ATP7B):c.1875T>C (p.Ile625=) rs756958229
NM_000053.4(ATP7B):c.1883A>G (p.His628Arg) rs528763888
NM_000053.4(ATP7B):c.1911C>T (p.Asn637=) rs770640457
NM_000053.4(ATP7B):c.1922T>C (p.Leu641Ser) rs186924074
NM_000053.4(ATP7B):c.1965G>A (p.Leu655=) rs574041847
NM_000053.4(ATP7B):c.1993A>G (p.Met665Val) rs146303208
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile) rs72552259
NM_000053.4(ATP7B):c.2028C>T (p.Asn676=) rs764441090
NM_000053.4(ATP7B):c.2121+7A>T rs1200174831
NM_000053.4(ATP7B):c.2145C>T (p.Tyr715=) rs751202110
NM_000053.4(ATP7B):c.2174G>A (p.Arg725Lys) rs115227204
NM_000053.4(ATP7B):c.2175G>A (p.Arg725=) rs61733684
NM_000053.4(ATP7B):c.2190C>T (p.Asp730=) rs550565277
NM_000053.4(ATP7B):c.226A>G (p.Ile76Val) rs200642204
NM_000053.4(ATP7B):c.2292C>T (p.Phe764=) rs372979339
NM_000053.4(ATP7B):c.2301C>T (p.Pro767=) rs770787421
NM_000053.4(ATP7B):c.2310C>G (p.Leu770=) rs398123136
NM_000053.4(ATP7B):c.2325C>A (p.Ala775=) rs755218710
NM_000053.4(ATP7B):c.2355+13T>G rs139211339
NM_000053.4(ATP7B):c.2436T>C (p.Asn812=) rs533967323
NM_000053.4(ATP7B):c.2447+8_2447+9insAA rs746283578
NM_000053.4(ATP7B):c.2475G>A (p.Val825=) rs373528664
NM_000053.4(ATP7B):c.2484C>T (p.Gly828=) rs570594838
NM_000053.4(ATP7B):c.2490C>T (p.Ile830=) rs759213674
NM_000053.4(ATP7B):c.2544C>T (p.Gly848=) rs200996053
NM_000053.4(ATP7B):c.2576-6G>A rs755819821
NM_000053.4(ATP7B):c.2604C>T (p.Pro868=) rs368902724
NM_000053.4(ATP7B):c.2730+10A>G rs1593695636
NM_000053.4(ATP7B):c.2859C>T (p.Tyr953=) rs762782389
NM_000053.4(ATP7B):c.2862T>C (p.Phe954=) rs972405411
NM_000053.4(ATP7B):c.2979G>C (p.Thr993=) rs200656411
NM_000053.4(ATP7B):c.2997C>G (p.Thr999=) rs199581971
NM_000053.4(ATP7B):c.3006C>T (p.Ala1002=) rs369620062
NM_000053.4(ATP7B):c.3042C>T (p.Pro1014=) rs1438628867
NM_000053.4(ATP7B):c.3054G>A (p.Ala1018=) rs193922105
NM_000053.4(ATP7B):c.3057C>T (p.His1019=) rs1352113797
NM_000053.4(ATP7B):c.3060+16G>T rs76163470
NM_000053.4(ATP7B):c.3069T>C (p.Thr1023=) rs187343742
NM_000053.4(ATP7B):c.3101A>G (p.His1034Arg) rs74085882
NM_000053.4(ATP7B):c.3105C>T (p.Gly1035=) rs200324179
NM_000053.4(ATP7B):c.3123G>C (p.Arg1041=) rs1192564410
NM_000053.4(ATP7B):c.3160A>C (p.Arg1054=) rs377586515
NM_000053.4(ATP7B):c.3211T>C (p.Leu1071=) rs748003525
NM_000053.4(ATP7B):c.325C>T (p.Leu109=) rs751920801
NM_000053.4(ATP7B):c.3261C>A (p.Thr1087=) rs375820067
NM_000053.4(ATP7B):c.3324C>T (p.Asn1108=) rs372456815
NM_000053.4(ATP7B):c.3369G>A (p.Pro1123=) rs61733679
NM_000053.4(ATP7B):c.3402C>T (p.Pro1134=) rs145887771
NM_000053.4(ATP7B):c.3489C>T (p.Ser1163=) rs193922106
NM_000053.4(ATP7B):c.3498T>C (p.Ser1166=) rs587783314
NM_000053.4(ATP7B):c.352G>A (p.Asp118Asn) rs769655497
NM_000053.4(ATP7B):c.3556+29TC[2] rs575346789
NM_000053.4(ATP7B):c.3557-6C>T rs140708492
NM_000053.4(ATP7B):c.3582C>T (p.Ile1194=) rs761183334
NM_000053.4(ATP7B):c.3618G>A (p.Val1206=) rs754144261
NM_000053.4(ATP7B):c.3620A>G (p.His1207Arg) rs7334118
NM_000053.4(ATP7B):c.3624G>A (p.Thr1208=) rs377267217
NM_000053.4(ATP7B):c.3624G>T (p.Thr1208=) rs377267217
NM_000053.4(ATP7B):c.3699+9C>T rs1593651766
NM_000053.4(ATP7B):c.3786C>T (p.Val1262=) rs375007352
NM_000053.4(ATP7B):c.3885C>T (p.Ala1295=) rs200597654
NM_000053.4(ATP7B):c.3889G>A (p.Val1297Ile) rs148399850
NM_000053.4(ATP7B):c.3891C>T (p.Val1297=) rs114771537
NM_000053.4(ATP7B):c.4021+34G>A rs373250873
NM_000053.4(ATP7B):c.4021+3A>G rs565970531
NM_000053.4(ATP7B):c.406A>G (p.Arg136Gly) rs557577836
NM_000053.4(ATP7B):c.4110C>T (p.Ser1370=) rs779979628
NM_000053.4(ATP7B):c.4119C>G (p.Leu1373=) rs1593637201
NM_000053.4(ATP7B):c.4124+8C>G rs1459365269
NM_000053.4(ATP7B):c.4135C>T (p.Pro1379Ser) rs181250704
NM_000053.4(ATP7B):c.4185G>A (p.Leu1395=) rs368801566
NM_000053.4(ATP7B):c.4287G>A (p.Ser1429=) rs747816425
NM_000053.4(ATP7B):c.4301C>T (p.Thr1434Met) rs60986317
NM_000053.4(ATP7B):c.4311G>A (p.Lys1437=) rs73202048
NM_000053.4(ATP7B):c.4395C>A (p.Ile1465=) rs199859839
NM_000053.4(ATP7B):c.442C>T (p.Arg148Trp) rs373762572
NM_000053.4(ATP7B):c.46C>A (p.Arg16=) rs1593892536
NM_000053.4(ATP7B):c.549C>T (p.Ala183=) rs772619981
NM_000053.4(ATP7B):c.628A>G (p.Ile210Val) rs61733680
NM_000053.4(ATP7B):c.747G>A (p.Leu249=) rs554554415
NM_000053.4(ATP7B):c.781C>T (p.Leu261=) rs1593789718
NM_000053.4(ATP7B):c.879G>A (p.Glu293=) rs1593789326
NM_000053.4(ATP7B):c.990A>G (p.Gly330=) rs754086671
NM_000053.4(ATP7B):c.993C>T (p.Ala331=) rs377294197
NM_001243182.1(ATP7B):c.-122_-118dup rs1555304635
NM_001243182.1(ATP7B):c.-127_-126insGCGCG rs1555304648

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.