ClinVar Miner

List of variants in gene PKP2 reported by CSER _CC_NCGL, University of Washington

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Total variants: 11
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HGVS dbSNP
NM_001005242.3(PKP2):c.1237C>T (p.Arg413Ter) rs372827156
NM_001005242.3(PKP2):c.1445C>T (p.Thr482Met) rs146882581
NM_001005242.3(PKP2):c.1627G>A (p.Val543Ile) rs146102241
NM_001005242.3(PKP2):c.1930T>C (p.Ser644Pro) rs144601090
NM_001005242.3(PKP2):c.2014-1G>C rs193922674
NM_001005242.3(PKP2):c.2299C>A (p.Arg767Ser) rs139734328
NM_001005242.3(PKP2):c.419C>T (p.Ser140Phe) rs150821281
NM_001005242.3(PKP2):c.505A>G (p.Ser169Gly) rs139139859
NM_001005242.3(PKP2):c.76G>A (p.Asp26Asn) rs143004808
NM_004572.3(PKP2):c.1465G>A (p.Gly489Arg) rs111450489
NM_004572.3(PKP2):c.184C>A (p.Gln62Lys) rs199601548

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