ClinVar Miner

List of variants in gene ATP1A2 reported as likely pathogenic by CeGaT Praxis fuer Humangenetik Tuebingen

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Total variants: 4
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HGVS dbSNP
NM_000702.4(ATP1A2):c.1096G>A (p.Gly366Ser) rs1553244883
NM_000702.4(ATP1A2):c.1261C>T (p.Arg421Ter) rs1165052640
NM_000702.4(ATP1A2):c.1817C>A (p.Ala606Glu) rs1553245183
NM_000702.4(ATP1A2):c.2066G>A (p.Arg689Gln) rs28933401

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