ClinVar Miner

List of variants in gene PKP2 reported as uncertain significance by DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center

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Total variants: 6
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HGVS dbSNP
NM_004572.3(PKP2):c.184C>A (p.Gln62Lys) rs199601548
NM_004572.3(PKP2):c.2062T>C (p.Ser688Pro) rs144601090
NM_004572.3(PKP2):c.364C>T (p.Arg122Cys) rs759377911
NM_004572.3(PKP2):c.419C>T (p.Ser140Phe) rs150821281
NM_004572.3(PKP2):c.713C>T (p.Pro238Leu) rs560220280
NM_004572.3(PKP2):c.895C>T (p.Arg299Cys) rs564987195

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