ClinVar Miner

List of variants in gene PKP2 reported as pathogenic for Cardiomyopathy

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Total variants: 18
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HGVS dbSNP
NM_001005242.2(PKP2):c.148_151del (p.Thr50fs) rs397516997
NM_001005242.2(PKP2):c.2377del (p.Ser793fs) rs727504432
NM_001005242.3(PKP2):c.1128dup (p.Ile377fs)
NM_001005242.3(PKP2):c.1132C>T (p.Gln378Ter) rs397516986
NM_001005242.3(PKP2):c.1237C>T (p.Arg413Ter) rs372827156
NM_001005242.3(PKP2):c.1369C>T (p.Gln457Ter)
NM_001005242.3(PKP2):c.1481G>A (p.Trp494Ter) rs193922672
NM_001005242.3(PKP2):c.1780C>T (p.Gln594Ter) rs397517012
NM_001005242.3(PKP2):c.2014-1G>C rs193922674
NM_001005242.3(PKP2):c.2062C>T (p.Gln688Ter)
NM_001005242.3(PKP2):c.2065_2070delinsG (p.His689fs) rs397517021
NM_001005242.3(PKP2):c.2357+1G>A rs111517471
NM_001005242.3(PKP2):c.235C>T (p.Arg79Ter) rs121434420
NM_004572.3(PKP2):c.1171-2A>G rs794729133
NM_004572.3(PKP2):c.1978C>T (p.Gln660Ter) rs762753884
NM_004572.3(PKP2):c.2013del (p.Lys672fs) rs764817683
NM_004572.3(PKP2):c.368G>A (p.Trp123Ter) rs760576804
NM_004572.3(PKP2):c.775G>T (p.Glu259Ter) rs1425855043

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