ClinVar Miner

List of variants reported as likely benign for Wilson disease by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 85
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HGVS dbSNP
NM_000053.4(ATP7B):c.1015A>C (p.Arg339=)
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=)
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=)
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=)
NM_000053.4(ATP7B):c.1686C>T (p.Ser562=)
NM_000053.4(ATP7B):c.1830G>A (p.Pro610=)
NM_000053.4(ATP7B):c.1839C>T (p.Ile613=) rs370476756
NM_000053.4(ATP7B):c.1875T>C (p.Ile625=)
NM_000053.4(ATP7B):c.1883A>G (p.His628Arg)
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=)
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
NM_000053.4(ATP7B):c.2145C>T (p.Tyr715=)
NM_000053.4(ATP7B):c.2174G>A (p.Arg725Lys) rs115227204
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=)
NM_000053.4(ATP7B):c.2436T>C (p.Asn812=)
NM_000053.4(ATP7B):c.2447+8_2447+9insAA
NM_000053.4(ATP7B):c.2475G>A (p.Val825=)
NM_000053.4(ATP7B):c.2484C>T (p.Gly828=) rs570594838
NM_000053.4(ATP7B):c.2490C>T (p.Ile830=)
NM_000053.4(ATP7B):c.2544C>T (p.Gly848=) rs200996053
NM_000053.4(ATP7B):c.2576-6G>A
NM_000053.4(ATP7B):c.2604C>T (p.Pro868=)
NM_000053.4(ATP7B):c.2730+10A>G
NM_000053.4(ATP7B):c.2859C>T (p.Tyr953=) rs762782389
NM_000053.4(ATP7B):c.2862T>C (p.Phe954=)
NM_000053.4(ATP7B):c.2979G>C (p.Thr993=) rs200656411
NM_000053.4(ATP7B):c.2997C>G (p.Thr999=)
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=)
NM_000053.4(ATP7B):c.3069T>C (p.Thr1023=) rs187343742
NM_000053.4(ATP7B):c.3105C>T (p.Gly1035=) rs200324179
NM_000053.4(ATP7B):c.3123G>C (p.Arg1041=)
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=)
NM_000053.4(ATP7B):c.3324C>T (p.Asn1108=) rs372456815
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.3582C>T (p.Ile1194=)
NM_000053.4(ATP7B):c.3618G>A (p.Val1206=)
NM_000053.4(ATP7B):c.3624G>A (p.Thr1208=) rs377267217
NM_000053.4(ATP7B):c.3624G>T (p.Thr1208=)
NM_000053.4(ATP7B):c.3699+9C>T
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.4021+3A>G rs565970531
NM_000053.4(ATP7B):c.406A>G (p.Arg136Gly)
NM_000053.4(ATP7B):c.4110C>T (p.Ser1370=)
NM_000053.4(ATP7B):c.4119C>G (p.Leu1373=)
NM_000053.4(ATP7B):c.4124+8C>G
NM_000053.4(ATP7B):c.4135C>T (p.Pro1379Ser) rs181250704
NM_000053.4(ATP7B):c.4185G>A (p.Leu1395=)
NM_000053.4(ATP7B):c.4287G>A (p.Ser1429=)
NM_000053.4(ATP7B):c.4301C>T (p.Thr1434Met) rs60986317
NM_000053.4(ATP7B):c.4395C>A (p.Ile1465=) rs199859839
NM_000053.4(ATP7B):c.442C>T (p.Arg148Trp)
NM_000053.4(ATP7B):c.46C>A (p.Arg16=)
NM_000053.4(ATP7B):c.549C>T (p.Ala183=)
NM_000053.4(ATP7B):c.628A>G (p.Ile210Val) rs61733680
NM_000053.4(ATP7B):c.747G>A (p.Leu249=)
NM_000053.4(ATP7B):c.781C>T (p.Leu261=)
NM_000053.4(ATP7B):c.879G>A (p.Glu293=)
NM_000053.4(ATP7B):c.990A>G (p.Gly330=)
NM_000053.4(ATP7B):c.993C>T (p.Ala331=)

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