ClinVar Miner

List of variants in gene ATP7A reported as benign by GeneDx

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Total variants: 12
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HGVS dbSNP
NM_000052.7(ATP7A):c.-22+117T>C
NM_000052.7(ATP7A):c.1516A>G (p.Ile506Val) rs143907597
NM_000052.7(ATP7A):c.1823A>G (p.Tyr608Cys) rs61742278
NM_000052.7(ATP7A):c.2299G>C (p.Val767Leu) rs2227291
NM_000052.7(ATP7A):c.4123+288A>G
NM_000052.7(ATP7A):c.4201G>C (p.Val1401Leu) rs5959130
NM_000052.7(ATP7A):c.4226+11T>C rs200009243
NM_000052.7(ATP7A):c.4389T>C (p.Ser1463=) rs371939448
NM_000052.7(ATP7A):c.4390A>G (p.Ile1464Val) rs2234938
NM_000052.7(ATP7A):c.491G>A (p.Ser164Asn) rs144655617
NM_000052.7(ATP7A):c.565A>G (p.Ile189Val) rs2228447
NM_000052.7(ATP7A):c.610+8G>A rs144616937

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