ClinVar Miner

List of variants in gene ATP7A reported as likely benign

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Total variants: 106
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HGVS dbSNP
NM_000052.7(ATP7A):c.-22+13T>C rs563965187
NM_000052.7(ATP7A):c.-22+13T>G rs563965187
NM_000052.7(ATP7A):c.1009G>A (p.Ala337Thr) rs138039591
NM_000052.7(ATP7A):c.1152T>C (p.Asp384=) rs147225045
NM_000052.7(ATP7A):c.1156A>G (p.Met386Val) rs369419911
NM_000052.7(ATP7A):c.120+194A>G rs139196328
NM_000052.7(ATP7A):c.121-2del rs1287511385
NM_000052.7(ATP7A):c.1251G>T (p.Gly417=) rs781846400
NM_000052.7(ATP7A):c.1270C>T (p.Leu424=) rs139000596
NM_000052.7(ATP7A):c.1273C>T (p.Leu425=) rs781950759
NM_000052.7(ATP7A):c.1302A>C (p.Ala434=) rs782148279
NM_000052.7(ATP7A):c.1427C>T (p.Thr476Ile) rs782702847
NM_000052.7(ATP7A):c.1510G>A (p.Ala504Thr) rs781786942
NM_000052.7(ATP7A):c.1543+9C>G rs367977602
NM_000052.7(ATP7A):c.1675G>A (p.Ala559Thr) rs1603383823
NM_000052.7(ATP7A):c.1677T>G (p.Ala559=) rs149841982
NM_000052.7(ATP7A):c.1708-5A>C rs782104249
NM_000052.7(ATP7A):c.1722G>A (p.Thr574=) rs207478437
NM_000052.7(ATP7A):c.1737A>G (p.Val579=) rs189353691
NM_000052.7(ATP7A):c.1758C>T (p.Leu586=) rs1557234088
NM_000052.7(ATP7A):c.1788C>A (p.Ser596=) rs368747913
NM_000052.7(ATP7A):c.1788C>T (p.Ser596=) rs368747913
NM_000052.7(ATP7A):c.1856T>C (p.Ile619Thr) rs1569549841
NM_000052.7(ATP7A):c.1893G>C (p.Leu631Phe) rs372898963
NM_000052.7(ATP7A):c.1934G>A (p.Arg645Gln) rs782729433
NM_000052.7(ATP7A):c.1954C>T (p.Arg652Trp) rs377714939
NM_000052.7(ATP7A):c.1955G>A (p.Arg652Gln) rs143214563
NM_000052.7(ATP7A):c.1974G>C (p.Leu658=) rs781957241
NM_000052.7(ATP7A):c.2070A>G (p.Glu690=) rs146692150
NM_000052.7(ATP7A):c.2071G>A (p.Glu691Lys) rs944415019
NM_000052.7(ATP7A):c.2131G>C (p.Val711Leu) rs782268170
NM_000052.7(ATP7A):c.2172+7G>T rs782433802
NM_000052.7(ATP7A):c.219T>C (p.Ala73=) rs1557231581
NM_000052.7(ATP7A):c.2208T>C (p.Tyr736=) rs1557234725
NM_000052.7(ATP7A):c.2241C>T (p.Asp747=) rs781928652
NM_000052.7(ATP7A):c.2277C>G (p.Ala759=) rs1473914623
NM_000052.7(ATP7A):c.2364T>C (p.Phe788=) rs1557234754
NM_000052.7(ATP7A):c.2391G>A (p.Leu797=) rs1603385697
NM_000052.7(ATP7A):c.2407-14G>T rs782184126
NM_000052.7(ATP7A):c.2452A>G (p.Thr818Ala) rs201788154
NM_000052.7(ATP7A):c.2490C>T (p.Ile830=) rs368261204
NM_000052.7(ATP7A):c.2499-9T>C rs1557235070
NM_000052.7(ATP7A):c.2519A>T (p.Glu840Val) rs372318616
NM_000052.7(ATP7A):c.2530C>T (p.Arg844Cys) rs374162669
NM_000052.7(ATP7A):c.2532T>G (p.Arg844=) rs782315761
NM_000052.7(ATP7A):c.2556A>T (p.Pro852=) rs781950120
NM_000052.7(ATP7A):c.2581C>T (p.Arg861Cys) rs781892236
NM_000052.7(ATP7A):c.2582G>A (p.Arg861His) rs782174967
NM_000052.7(ATP7A):c.2627-7C>T rs1603386991
NM_000052.7(ATP7A):c.2709C>T (p.Cys903=) rs140838569
NM_000052.7(ATP7A):c.2775A>G (p.Thr925=) rs1603387045
NM_000052.7(ATP7A):c.2778A>G (p.Ser926=) rs1557235619
NM_000052.7(ATP7A):c.2903A>G (p.Glu968Gly) rs138958687
NM_000052.7(ATP7A):c.2916+2402del rs371747549
NM_000052.7(ATP7A):c.2917-9C>T rs188421674
NM_000052.7(ATP7A):c.2948C>T (p.Thr983Met) rs782094358
NM_000052.7(ATP7A):c.3112G>A (p.Val1038Ile) rs181435872
NM_000052.7(ATP7A):c.3117G>T (p.Lys1039Asn) rs1057520234
NM_000052.7(ATP7A):c.3153C>T (p.His1051=) rs142998552
NM_000052.7(ATP7A):c.3168G>T (p.Val1056=) rs371089220
NM_000052.7(ATP7A):c.317C>T (p.Thr106Ile) rs782647620
NM_000052.7(ATP7A):c.318A>G (p.Thr106=) rs781851530
NM_000052.7(ATP7A):c.3294+907C>T rs139339244
NM_000052.7(ATP7A):c.3295-6del rs1557237411
NM_000052.7(ATP7A):c.3374A>G (p.Asn1125Ser) rs782764064
NM_000052.7(ATP7A):c.3449T>C (p.Ile1150Thr) rs201225704
NM_000052.7(ATP7A):c.3475A>G (p.Thr1159Ala) rs138154934
NM_000052.7(ATP7A):c.3589A>G (p.Asn1197Asp) rs148765730
NM_000052.7(ATP7A):c.360T>A (p.Pro120=) rs1557231616
NM_000052.7(ATP7A):c.3613G>C (p.Glu1205Gln) rs782349186
NM_000052.7(ATP7A):c.3659-257G>C rs138431566
NM_000052.7(ATP7A):c.3659-5A>G rs1557238245
NM_000052.7(ATP7A):c.3696G>A (p.Val1232=) rs1557238252
NM_000052.7(ATP7A):c.3786A>G (p.Arg1262=) rs1557238272
NM_000052.7(ATP7A):c.3801+6T>C rs181665434
NM_000052.7(ATP7A):c.3802-9A>G rs1557238565
NM_000052.7(ATP7A):c.3903T>C (p.Asp1301=) rs782582761
NM_000052.7(ATP7A):c.3931A>G (p.Met1311Val) rs139781067
NM_000052.7(ATP7A):c.4006A>G (p.Asn1336Asp) rs146651049
NM_000052.7(ATP7A):c.4029A>C (p.Ala1343=) rs1603391248
NM_000052.7(ATP7A):c.4038C>T (p.Asp1346=) rs375819425
NM_000052.7(ATP7A):c.4226+11T>C rs200009243
NM_000052.7(ATP7A):c.4226+48A>G rs17218310
NM_000052.7(ATP7A):c.4226+9G>A rs1557239012
NM_000052.7(ATP7A):c.4245C>T (p.Tyr1415=) rs782346811
NM_000052.7(ATP7A):c.4267C>A (p.Arg1423=) rs149079962
NM_000052.7(ATP7A):c.4267C>T (p.Arg1423Trp) rs149079962
NM_000052.7(ATP7A):c.4312G>A (p.Val1438Ile) rs782682493
NM_000052.7(ATP7A):c.4389T>C (p.Ser1463=) rs371939448
NM_000052.7(ATP7A):c.4414C>T (p.Arg1472Cys) rs782062633
NM_000052.7(ATP7A):c.4422A>G (p.Leu1474=) rs1557239138
NM_000052.7(ATP7A):c.4467G>C (p.Val1489=) rs1603391708
NM_000052.7(ATP7A):c.4498T>G (p.Leu1500Val) rs782719789
NM_000052.7(ATP7A):c.470C>T (p.Ser157Leu) rs782716555
NM_000052.7(ATP7A):c.513C>T (p.Val171=) rs782643553
NM_000052.7(ATP7A):c.610+108G>A rs148390231
NM_000052.7(ATP7A):c.610+19A>G rs367724628
NM_000052.7(ATP7A):c.645T>C (p.Tyr215=) rs782587854
NM_000052.7(ATP7A):c.673A>G (p.Met225Val) rs782619990
NM_000052.7(ATP7A):c.729G>A (p.Lys243=) rs782326318
NM_000052.7(ATP7A):c.84G>A (p.Gln28=) rs1603378828
NM_000052.7(ATP7A):c.880A>T (p.Asn294Tyr) rs150526992
NM_000052.7(ATP7A):c.903A>C (p.Ala301=) rs1557231803
NM_000052.7(ATP7A):c.922A>G (p.Ile308Val) rs782351352
NM_000052.7(ATP7A):c.963T>C (p.Tyr321=) rs1557231829
NM_000052.7(ATP7A):c.972C>T (p.Ser324=) rs1002928416

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