ClinVar Miner

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

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Total variants: 9
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HGVS dbSNP
NM_000052.6(ATP7A):c.1823A>G (p.Tyr608Cys) rs61742278
NM_000052.6(ATP7A):c.2299G>C (p.Val767Leu) rs2227291
NM_000052.6(ATP7A):c.2782-29C>A rs113968994
NM_000052.6(ATP7A):c.327G>A (p.Lys109=) rs61747968
NM_000052.6(ATP7A):c.3416A>G (p.Asp1139Gly) rs782154314
NM_000052.6(ATP7A):c.4048A= (p.Lys1350=) rs4826245
NM_000052.6(ATP7A):c.4226+11T>C rs200009243
NM_000052.6(ATP7A):c.4390A>G (p.Ile1464Val) rs2234938
NM_000052.6(ATP7A):c.610+8G>A rs144616937

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