ClinVar Miner

List of variants studied for Arrhythmogenic right ventricular dysplasia 10 by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001943.5(DSG2):c.166G>A (p.Val56Met) rs121913013 0.00150
NM_001943.5(DSG2):c.1478A>G (p.Asn493Ser) rs375679311 0.00011
NM_001943.5(DSG2):c.523+2T>C rs397516709 0.00001
NM_001943.5(DSG2):c.3059_3062del (p.Glu1020fs) rs397516706

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