ClinVar Miner

List of variants in gene PKP2 reported as pathogenic by Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

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Gene type:
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Total variants: 13
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HGVS dbSNP
NM_004572.3(PKP2):c.1132C>T (p.Gln378Ter) rs397516986
NM_004572.3(PKP2):c.1211dup (p.Val406fs) rs397516989
NM_004572.3(PKP2):c.1237C>T (p.Arg413Ter) rs372827156
NM_004572.3(PKP2):c.148_151del (p.Thr50fs) rs397516997
NM_004572.3(PKP2):c.1643del (p.Gly548fs) rs794729137
NM_004572.3(PKP2):c.1688+1G>A rs397517003
NM_004572.3(PKP2):c.1912C>T (p.Gln638Ter) rs397517012
NM_004572.3(PKP2):c.1999G>T (p.Glu667Ter) rs397517015
NM_004572.3(PKP2):c.2146-1G>C rs193922674
NM_004572.3(PKP2):c.2197_2202delinsG (p.His733fs) rs397517021
NM_004572.3(PKP2):c.2203C>T (p.Arg735Ter) rs121434421
NM_004572.3(PKP2):c.235C>T (p.Arg79Ter) rs121434420
NM_004572.3(PKP2):c.2489+1G>A rs111517471

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