ClinVar Miner

List of variants studied for Arrhythmogenic right ventricular dysplasia 9 by New York Genome Center

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001005242.3(PKP2):c.1481G>A (p.Trp494Ter) rs193922672 0.00002
NM_001005242.3(PKP2):c.1063C>T (p.Arg355Ter) rs754912778 0.00001
NM_001005242.3(PKP2):c.148_151del (p.Thr50fs) rs397516997
NM_001005242.3(PKP2):c.669_671dup (p.Gly224dup) rs2137948788

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