ClinVar Miner

List of variants in gene ATP1A2 reported as likely pathogenic by GeneDx

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Total variants: 6
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HGVS dbSNP
NM_000702.4(ATP1A2):c.1017+5G>A rs1085307953
NM_000702.4(ATP1A2):c.1022G>T (p.Cys341Phe) rs1057521630
NM_000702.4(ATP1A2):c.1148G>A (p.Arg383His) rs765909830
NM_000702.4(ATP1A2):c.2102del (p.Gly701fs) rs1064794725
NM_000702.4(ATP1A2):c.2438T>A (p.Met813Lys) rs796052277
NM_000702.4(ATP1A2):c.882_897del (p.Gly295fs) rs1064796771

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