ClinVar Miner

List of variants in gene ATP7A reported as pathogenic for not provided

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Total variants: 11
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HGVS dbSNP
NM_000052.7(ATP7A):c.1205del (p.Lys402fs) rs398123133
NM_000052.7(ATP7A):c.1435C>T (p.Gln479Ter) rs1569549695
NM_000052.7(ATP7A):c.1707+6_1707+9del rs879253938
NM_000052.7(ATP7A):c.1933C>T (p.Arg645Ter) rs72554640
NM_000052.7(ATP7A):c.1974_1977dup (p.Phe660fs) rs886044769
NM_000052.7(ATP7A):c.2383C>T (p.Arg795Ter) rs72554645
NM_000052.7(ATP7A):c.2694del (p.Ser899fs) rs886044881
NM_000052.7(ATP7A):c.2867G>A (p.Trp956Ter) rs67273048
NM_000052.7(ATP7A):c.3802-1G>T rs398123135
NM_000052.7(ATP7A):c.3915_3921del (p.Asp1305fs) rs1557238590
NM_000052.7(ATP7A):c.601C>T (p.Arg201Ter) rs151340633

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