ClinVar Miner

List of variants in gene ATP1A2 reported as pathogenic by GeneDx

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Total variants: 6
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NM_000702.4(ATP1A2):c.1127C>G (p.Thr376Arg) rs121918620
NM_000702.4(ATP1A2):c.1643G>A (p.Arg548His) rs121918616
NM_000702.4(ATP1A2):c.1777C>T (p.Arg593Trp) rs886039530
NM_000702.4(ATP1A2):c.1816G>A (p.Ala606Thr) rs1414742926
NM_000702.4(ATP1A2):c.1882G>A (p.Val628Met) rs1553245659
NM_000702.4(ATP1A2):c.2500C>T (p.Arg834Ter) rs755310507

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