ClinVar Miner

List of variants in gene ATP7A reported as uncertain significance for not provided

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Total variants: 53
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HGVS dbSNP
NM_000052.4(ATP7A):c.121-2delA rs1287511385
NM_000052.7(ATP7A):c.1000G>A (p.Ala334Thr) rs368622356
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.1082C>T (p.Ser361Leu) rs782651571
NM_000052.7(ATP7A):c.1142T>G (p.Ile381Arg) rs1057522517
NM_000052.7(ATP7A):c.120+5G>A rs1569549379
NM_000052.7(ATP7A):c.1306G>A (p.Glu436Lys) rs782717793
NM_000052.7(ATP7A):c.1375T>C (p.Ser459Pro) rs374530062
NM_000052.7(ATP7A):c.142G>A (p.Ala48Thr) rs1557231562
NM_000052.7(ATP7A):c.1534C>T (p.Arg512Trp) rs1030215501
NM_000052.7(ATP7A):c.1588G>A (p.Val530Ile) rs398123134
NM_000052.7(ATP7A):c.1597A>G (p.Asn533Asp) rs1057524455
NM_000052.7(ATP7A):c.1621A>G (p.Met541Val) rs1557233382
NM_000052.7(ATP7A):c.1630G>C (p.Glu544Gln) rs782491733
NM_000052.7(ATP7A):c.1721C>G (p.Thr574Arg) rs782076879
NM_000052.7(ATP7A):c.1734C>T (p.Cys578=) rs72554638
NM_000052.7(ATP7A):c.1870-3T>A rs1557234394
NM_000052.7(ATP7A):c.1892T>C (p.Leu631Ser) rs876661241
NM_000052.7(ATP7A):c.1893G>C (p.Leu631Phe) rs372898963
NM_000052.7(ATP7A):c.1906C>T (p.Arg636Trp) rs1057523112
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.2329C>A (p.Pro777Thr) rs879254312
NM_000052.7(ATP7A):c.2353C>A (p.Pro785Thr) rs1057523512
NM_000052.7(ATP7A):c.2375C>T (p.Ala792Val) rs782770209
NM_000052.7(ATP7A):c.2485A>T (p.Asn829Tyr) rs1163453293
NM_000052.7(ATP7A):c.2499-7T>C rs782260332
NM_000052.7(ATP7A):c.2570C>T (p.Pro857Leu) rs886044908
NM_000052.7(ATP7A):c.278C>G (p.Thr93Arg) 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.3071T>A (p.Ile1024Lys) rs797044648
NM_000052.7(ATP7A):c.3112G>A (p.Val1038Ile) rs181435872
NM_000052.7(ATP7A):c.3337G>A (p.Val1113Ile) rs879254006
NM_000052.7(ATP7A):c.3521A>T (p.Asn1174Ile) rs876661235
NM_000052.7(ATP7A):c.3788C>G (p.Ser1263Cys) rs372066609
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.3950C>A (p.Ala1317Asp) rs1569550334
NM_000052.7(ATP7A):c.3970G>A (p.Val1324Ile) rs782692001
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.4094A>T (p.Tyr1365Phe) rs1569550339
NM_000052.7(ATP7A):c.4102G>A (p.Val1368Ile) rs782483019
NM_000052.7(ATP7A):c.4310A>G (p.His1437Arg) rs1557239111
NM_000052.7(ATP7A):c.4425C>A (p.Asn1475Lys) rs1557239142
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.941A>G (p.Asn314Ser) rs1064797375

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