ClinVar Miner

List of variants in gene ATP7A reported by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 9
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HGVS dbSNP
NM_000052.7(ATP7A):c.1435C>T (p.Gln479Ter) rs1569549695
NM_000052.7(ATP7A):c.1737A>G (p.Val579=) rs189353691
NM_000052.7(ATP7A):c.177A>G (p.Pro59=) rs142463642
NM_000052.7(ATP7A):c.1933C>T (p.Arg645Ter) rs72554640
NM_000052.7(ATP7A):c.2299G>C (p.Val767Leu) rs2227291
NM_000052.7(ATP7A):c.2782-29C>A rs113968994
NM_000052.7(ATP7A):c.2903A>G (p.Glu968Gly) rs138958687
NM_000052.7(ATP7A):c.3295-6del rs1557237411
NM_000052.7(ATP7A):c.3902A>G (p.Asp1301Gly) rs1557238588

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