ClinVar Miner

List of variants in gene ATP7A reported as benign by Genetic Services Laboratory, University of Chicago

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Total variants: 9
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HGVS dbSNP
NM_000052.7(ATP7A):c.1013T>A (p.Val338Glu) rs797045326
NM_000052.7(ATP7A):c.2006T>C (p.Ile669Thr) rs2234935
NM_000052.7(ATP7A):c.2299G>C (p.Val767Leu) rs2227291
NM_000052.7(ATP7A):c.3532T>C (p.Tyr1178His) rs1139445
NM_000052.7(ATP7A):c.3931A>G (p.Met1311Val) rs139781067
NM_000052.7(ATP7A):c.4048= (p.Lys1350=) rs4826245
NM_000052.7(ATP7A):c.4226+11T>C rs200009243
NM_000052.7(ATP7A):c.4390A>G (p.Ile1464Val) rs2234938
NM_000052.7(ATP7A):c.565A>G (p.Ile189Val) rs2228447

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