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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Gene type:
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Total variants: 6
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HGVS dbSNP
NM_004572.3(PKP2):c.1689-1G>C rs78897684
NM_004572.3(PKP2):c.1912C>T (p.Gln638Ter) rs397517012
NM_004572.3(PKP2):c.2299+1G>A rs794729116
NM_004572.3(PKP2):c.2489+1G>A rs111517471
NM_004572.3(PKP2):c.2509del (p.Ser837fs) rs727504432
NM_004572.3(PKP2):c.273_277del (p.His91_Leu92insTer) rs1555148259

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