ClinVar Miner

List of variants in gene DSG2 reported as likely pathogenic for Arrhythmogenic right ventricular cardiomyopathy

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Total variants: 13
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HGVS dbSNP
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala) rs191564916
NM_001943.5(DSG2):c.1017del (p.Glu339_Val340insTer) rs745457570
NM_001943.5(DSG2):c.146G>A (p.Arg49His) rs121913006
NM_001943.5(DSG2):c.1880-2A>G rs397514038
NM_001943.5(DSG2):c.2434G>T (p.Gly812Cys) rs121913010
NM_001943.5(DSG2):c.2551del (p.Ile851fs) rs763907170
NM_001943.5(DSG2):c.3061_3062del (p.Ser1021fs) rs397516706
NM_001943.5(DSG2):c.391G>A (p.Ala131Thr) rs373542380
NM_001943.5(DSG2):c.523+2T>C rs397516709
NM_001943.5(DSG2):c.792T>A (p.Asp264Glu) rs869025388
NM_001943.5(DSG2):c.880A>G (p.Lys294Glu) rs752432726
NM_001943.5(DSG2):c.882dup (p.Val295fs) rs1187924885
NM_001943.5(DSG2):c.941C>A (p.Ser314Ter) rs397516712

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