ClinVar Miner

List of variants in gene PKP2 reported as pathogenic by Fulgent Genetics,Fulgent Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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NM_001005242.3(PKP2):c.1481G>A (p.Trp494Ter) rs193922672
NM_001005242.3(PKP2):c.2014-1G>C rs193922674
NM_001005242.3(PKP2):c.2065_2070delinsG (p.His689fs) rs397517021

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