ClinVar Miner

List of variants in gene PKP2 reported as likely pathogenic for Arrhythmogenic right ventricular dysplasia 1

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001005242.3(PKP2):c.1926T>A (p.Tyr642Ter)	rs1444213066
NM_001005242.3(PKP2):c.2358-2A>G	rs1956082474

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