ClinVar Miner

List of variants studied for Arrhythmogenic right ventricular dysplasia 10 by KardioGenetik, Herz- und Diabeteszentrum NRW

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001943.5(DSG2):c.3G>A (p.Met1Ile)	rs1021457619	0.00002
NM_001943.5(DSG2):c.1520G>A (p.Cys507Tyr)	rs121913009	0.00001
NM_001943.5(DSG2):c.1353del (p.Lys451fs)
NM_001943.5(DSG2):c.216+2T>C	rs2510910424
NM_001943.5(DSG2):c.918G>A (p.Trp306Ter)	rs121913007

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