ClinVar Miner

List of variants in gene ATP7A reported as pathogenic for Cutis laxa, X-linked

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Total variants: 6
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HGVS dbSNP
ATP7A, 8-BP DEL, NT1552
ATP7A, IVSAS, 2642A-G, -2
NM_000052.7(ATP7A):c.1707+6T>A rs797045334
NM_000052.7(ATP7A):c.1910C>T (p.Ser637Leu) rs151340631
NM_000052.7(ATP7A):c.3911A>G (p.Asn1304Ser) rs151340632
NM_000052.7(ATP7A):c.4352del (p.Gly1451fs) rs1569550376

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