ClinVar Miner

List of variants in gene ATP7A reported by GeneDx

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Gene type:
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Total variants: 99
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HGVS dbSNP
NM_000052.7(ATP7A):c.-22+117T>C
NM_000052.7(ATP7A):c.-22+13T>C rs563965187
NM_000052.7(ATP7A):c.-22+13T>G rs563965187
NM_000052.7(ATP7A):c.1000G>A (p.Ala334Thr) rs368622356
NM_000052.7(ATP7A):c.1009G>A (p.Ala337Thr) rs138039591
NM_000052.7(ATP7A):c.1030A>G (p.Arg344Gly) rs782196306
NM_000052.7(ATP7A):c.1040T>C (p.Ile347Thr) rs368982547
NM_000052.7(ATP7A):c.1142T>G (p.Ile381Arg) rs1057522517
NM_000052.7(ATP7A):c.120+194A>G
NM_000052.7(ATP7A):c.121-2del rs1287511385
NM_000052.7(ATP7A):c.1251G>T (p.Gly417=)
NM_000052.7(ATP7A):c.1273C>T (p.Leu425=) rs781950759
NM_000052.7(ATP7A):c.1375T>C (p.Ser459Pro) rs374530062
NM_000052.7(ATP7A):c.1384C>G (p.Pro462Ala) rs781964005
NM_000052.7(ATP7A):c.142G>A (p.Ala48Thr) rs1557231562
NM_000052.7(ATP7A):c.1516A>G (p.Ile506Val) rs143907597
NM_000052.7(ATP7A):c.1534C>T (p.Arg512Trp) rs1030215501
NM_000052.7(ATP7A):c.1543+9C>G
NM_000052.7(ATP7A):c.1597A>G (p.Asn533Asp) rs1057524455
NM_000052.7(ATP7A):c.1630G>C (p.Glu544Gln) rs782491733
NM_000052.7(ATP7A):c.1707+6_1707+9del rs879253938
NM_000052.7(ATP7A):c.1721C>T (p.Thr574Met) rs782076879
NM_000052.7(ATP7A):c.1722G>A (p.Thr574=)
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>T (p.Ser596=) rs368747913
NM_000052.7(ATP7A):c.1802C>A (p.Thr601Asn) rs371777895
NM_000052.7(ATP7A):c.1823A>G (p.Tyr608Cys) rs61742278
NM_000052.7(ATP7A):c.1870-3T>A rs1557234394
NM_000052.7(ATP7A):c.1892T>C (p.Leu631Ser) rs876661241
NM_000052.7(ATP7A):c.1906C>T (p.Arg636Trp) rs1057523112
NM_000052.7(ATP7A):c.1934G>A (p.Arg645Gln) rs782729433
NM_000052.7(ATP7A):c.1955G>A (p.Arg652Gln) rs143214563
NM_000052.7(ATP7A):c.1993A>C (p.Met665Leu) rs879254156
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.2225A>G (p.Lys742Arg) rs782664014
NM_000052.7(ATP7A):c.2241C>T (p.Asp747=) rs781928652
NM_000052.7(ATP7A):c.2299G>C (p.Val767Leu) rs2227291
NM_000052.7(ATP7A):c.2329C>A (p.Pro777Thr) rs879254312
NM_000052.7(ATP7A):c.2353C>A (p.Pro785Thr) rs1057523512
NM_000052.7(ATP7A):c.2383C>T (p.Arg795Ter) rs72554645
NM_000052.7(ATP7A):c.2407-14G>T rs782184126
NM_000052.7(ATP7A):c.2452A>G (p.Thr818Ala) rs201788154
NM_000052.7(ATP7A):c.2485A>T (p.Asn829Tyr) rs1163453293
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.2531G>A (p.Arg844His) rs367775730
NM_000052.7(ATP7A):c.2709C>T (p.Cys903=) rs140838569
NM_000052.7(ATP7A):c.278C>G (p.Thr93Arg) rs539177302
NM_000052.7(ATP7A):c.278C>T (p.Thr93Met) rs539177302
NM_000052.7(ATP7A):c.2924A>G (p.Asn975Ser) rs1557236698
NM_000052.7(ATP7A):c.2939G>A (p.Arg980Gln) rs1057522925
NM_000052.7(ATP7A):c.2957G>A (p.Arg986Gln) rs781995242
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.3137C>T (p.Thr1046Ile) rs1064796648
NM_000052.7(ATP7A):c.3153C>T (p.His1051=) rs142998552
NM_000052.7(ATP7A):c.3174A>G (p.Gln1058=) rs1057518370
NM_000052.7(ATP7A):c.3294+907C>T
NM_000052.7(ATP7A):c.3337G>A (p.Val1113Ile) rs879254006
NM_000052.7(ATP7A):c.3434C>T (p.Ala1145Val) rs374154862
NM_000052.7(ATP7A):c.3449T>C (p.Ile1150Thr) rs201225704
NM_000052.7(ATP7A):c.3521A>T (p.Asn1174Ile) rs876661235
NM_000052.7(ATP7A):c.3565A>G (p.Ile1189Val) rs368917354
NM_000052.7(ATP7A):c.3589A>G (p.Asn1197Asp) rs148765730
NM_000052.7(ATP7A):c.3659-257G>C
NM_000052.7(ATP7A):c.3659-5A>G rs1557238245
NM_000052.7(ATP7A):c.3788C>G (p.Ser1263Cys) rs372066609
NM_000052.7(ATP7A):c.3801+6T>C rs181665434
NM_000052.7(ATP7A):c.3812del (p.Thr1271fs) rs1557238569
NM_000052.7(ATP7A):c.3863A>G (p.Gln1288Arg) rs375788705
NM_000052.7(ATP7A):c.3883C>T (p.Arg1295Trp) rs372489000
NM_000052.7(ATP7A):c.3894G>C (p.Met1298Ile) rs782499160
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.4066C>T (p.Arg1356Trp) rs370736173
NM_000052.7(ATP7A):c.4102G>A (p.Val1368Ile) rs782483019
NM_000052.7(ATP7A):c.4123+288A>G
NM_000052.7(ATP7A):c.4201G>C (p.Val1401Leu) rs5959130
NM_000052.7(ATP7A):c.4226+11T>C rs200009243
NM_000052.7(ATP7A):c.4226+48A>G
NM_000052.7(ATP7A):c.4312G>A (p.Val1438Ile) rs782682493
NM_000052.7(ATP7A):c.4364G>A (p.Arg1455Gln) rs147848649
NM_000052.7(ATP7A):c.4389T>C (p.Ser1463=) rs371939448
NM_000052.7(ATP7A):c.4390A>G (p.Ile1464Val) rs2234938
NM_000052.7(ATP7A):c.4425C>A (p.Asn1475Lys) rs1557239142
NM_000052.7(ATP7A):c.491G>A (p.Ser164Asn) rs144655617
NM_000052.7(ATP7A):c.513C>T (p.Val171=) rs782643553
NM_000052.7(ATP7A):c.565A>G (p.Ile189Val) rs2228447
NM_000052.7(ATP7A):c.610+108G>A
NM_000052.7(ATP7A):c.610+19A>G rs367724628
NM_000052.7(ATP7A):c.610+8G>A rs144616937
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.686T>C (p.Ile229Thr) rs1557231750
NM_000052.7(ATP7A):c.880A>T (p.Asn294Tyr) rs150526992
NM_000052.7(ATP7A):c.922A>G (p.Ile308Val) rs782351352
NM_000052.7(ATP7A):c.972C>T (p.Ser324=) rs1002928416

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