ClinVar Miner

List of variants in gene ATP7A reported as likely benign by GeneDx

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Total variants: 38
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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.120+194A>G
NM_000052.7(ATP7A):c.1251G>T (p.Gly417=)
NM_000052.7(ATP7A):c.1273C>T (p.Leu425=) rs781950759
NM_000052.7(ATP7A):c.1543+9C>G
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.1934G>A (p.Arg645Gln) rs782729433
NM_000052.7(ATP7A):c.1955G>A (p.Arg652Gln) rs143214563
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.2241C>T (p.Asp747=) rs781928652
NM_000052.7(ATP7A):c.2407-14G>T rs782184126
NM_000052.7(ATP7A):c.2452A>G (p.Thr818Ala) rs201788154
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.2709C>T (p.Cys903=) rs140838569
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.3294+907C>T
NM_000052.7(ATP7A):c.3449T>C (p.Ile1150Thr) rs201225704
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.3801+6T>C rs181665434
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.4226+48A>G
NM_000052.7(ATP7A):c.513C>T (p.Val171=) rs782643553
NM_000052.7(ATP7A):c.610+108G>A
NM_000052.7(ATP7A):c.610+19A>G rs367724628
NM_000052.7(ATP7A):c.645T>C (p.Tyr215=) rs782587854
NM_000052.7(ATP7A):c.880A>T (p.Asn294Tyr) rs150526992
NM_000052.7(ATP7A):c.972C>T (p.Ser324=) rs1002928416

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