ClinVar Miner

List of variants studied for Arrhythmogenic right ventricular dysplasia 9 by MGZ Medical Genetics Center

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001005242.3(PKP2):c.2014-1G>C rs193922674 0.00003
NM_001005242.3(PKP2):c.1058_1059del (p.Leu353fs)
NM_001005242.3(PKP2):c.1211dup (p.Val406fs) rs397516989

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