ClinVar Miner

List of variants in gene ATP7A reported as uncertain significance by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Total variants: 11
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HGVS dbSNP
NM_000052.7(ATP7A):c.120+5G>A rs1569549379
NM_000052.7(ATP7A):c.1306G>A (p.Glu436Lys) rs782717793
NM_000052.7(ATP7A):c.1588G>A (p.Val530Ile) rs398123134
NM_000052.7(ATP7A):c.1721C>G (p.Thr574Arg) rs782076879
NM_000052.7(ATP7A):c.1734C>T (p.Cys578=) rs72554638
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.2570C>T (p.Pro857Leu) rs886044908
NM_000052.7(ATP7A):c.3071T>A (p.Ile1024Lys) rs797044648
NM_000052.7(ATP7A):c.3970G>A (p.Val1324Ile) rs782692001
NM_000052.7(ATP7A):c.4006A>G (p.Asn1336Asp) rs146651049

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