ClinVar Miner

List of variants in gene ATP7A reported as pathogenic by OMIM

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Total variants: 16
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HGVS dbSNP
ATP7A, 8-BP DEL, NT1552
ATP7A, EX3-4 DEL
ATP7A, EX8 DEL
ATP7A, IVSAS, 2642A-G, -2
ATP7A, IVSXDS, A-T, +3
NM_000052.7(ATP7A):c.1707+1G>A rs1569549753
NM_000052.7(ATP7A):c.1707+6T>A rs797045334
NM_000052.7(ATP7A):c.1910C>T (p.Ser637Leu) rs151340631
NM_000052.7(ATP7A):c.2938C>T (p.Arg980Ter) rs72554649
NM_000052.7(ATP7A):c.2981C>T (p.Thr994Ile) rs267606673
NM_000052.7(ATP7A):c.3056G>A (p.Gly1019Asp) rs72554652
NM_000052.7(ATP7A):c.3911A>G (p.Asn1304Ser) rs151340632
NM_000052.7(ATP7A):c.408_415del (p.Asn137fs) rs1569549587
NM_000052.7(ATP7A):c.4156C>T (p.Pro1386Ser) rs267606672
NM_000052.7(ATP7A):c.4352del (p.Gly1451fs) rs1569550376
NM_000052.7(ATP7A):c.601C>T (p.Arg201Ter) rs151340633

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