ClinVar Miner

List of variants in gene PKP2 reported as pathogenic by Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute

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Total variants: 8
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NM_001005242.2(PKP2):c.148_151del (p.Thr50fs) rs397516997
NM_001005242.2(PKP2):c.2377del (p.Ser793fs) rs727504432
NM_001005242.3(PKP2):c.1780C>T (p.Gln594Ter) rs397517012
NM_001005242.3(PKP2):c.2014-1G>C rs193922674
NM_001005242.3(PKP2):c.2357+1G>A rs111517471
NM_004572.3(PKP2):c.1689-1G>C rs78897684
NM_004572.3(PKP2):c.2299+1G>A rs794729116
NM_004572.3(PKP2):c.273_277del (p.His91_Leu92insTer) rs1555148259

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