ClinVar Miner

List of variants in gene PKP2 reported as pathogenic by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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NM_001005242.3(PKP2):c.1379-1998C>T rs151212477
NM_001005242.3(PKP2):c.235C>T (p.Arg79Ter) rs121434420
NM_004572.3(PKP2):c.368G>A (p.Trp123Ter) rs760576804
NM_004572.3(PKP2):c.663C>A (p.Tyr221Ter) rs767987619

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