ClinVar Miner

List of variants in gene PKP2 reported by Agnes Ginges Centre for Molecular Cardiology, Centenary Institute

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001005242.3(PKP2):c.2357+1G>A rs111517471 0.00004
NM_001005242.3(PKP2):c.2014-1G>C rs193922674 0.00003
NM_001005242.3(PKP2):c.68G>A (p.Gly23Glu) rs746530389 0.00002
NM_001005242.3(PKP2):c.2071C>T (p.Arg691Ter) rs121434421
NM_001005242.3(PKP2):c.2229dup (p.Leu744fs) rs1956121988
NM_001005242.3(PKP2):c.2259C>A (p.Tyr753Ter) rs1181152684
NM_001005242.3(PKP2):c.253_256del (p.Glu85fs) rs786204388

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