ClinVar Miner

List of variants in gene PKP2 studied for Primary familial hypertrophic cardiomyopathy

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Total variants: 5
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HGVS dbSNP
NM_004572.3(PKP2):c.1012A>G (p.Thr338Ala) rs139851304
NM_004572.3(PKP2):c.1045A>G (p.Met349Val) rs199957846
NM_004572.3(PKP2):c.1114G>C (p.Ala372Pro) rs200586695
NM_004572.3(PKP2):c.1576A>G (p.Thr526Ala) rs397516999
NM_004572.3(PKP2):c.2392A>G (p.Thr798Ala) rs112592855

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