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

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_001943.5(DSG2):c.880A>G (p.Lys294Glu)	rs752432726	0.00002
NM_001943.5(DSG2):c.792T>A (p.Asp264Glu)	rs869025388	0.00001
NM_001943.5(DSG2):c.1017del (p.Glu339_Val340insTer)	rs745457570
NM_001943.5(DSG2):c.136C>T (p.Arg46Trp)	rs752522753
NM_001943.5(DSG2):c.1433dup (p.Thr480fs)	rs2510917769
NM_001943.5(DSG2):c.146G>A (p.Arg49His)	rs121913006
NM_001943.5(DSG2):c.1880-2A>G	rs397514038
NM_001943.5(DSG2):c.2349C>A (p.Tyr783Ter)	rs1064793983
NM_001943.5(DSG2):c.2434G>T (p.Gly812Cys)	rs121913010
NM_001943.5(DSG2):c.2551del (p.Ile851fs)	rs763907170
NM_001943.5(DSG2):c.2923del (p.Leu974_Val975insTer)	rs794728084
NM_001943.5(DSG2):c.3059_3062del (p.Glu1020fs)	rs397516706
NM_001943.5(DSG2):c.3061_3062del (p.Ser1021fs)	rs397516706
NM_001943.5(DSG2):c.390C>A (p.Tyr130Ter)	rs369489095
NM_001943.5(DSG2):c.523+1G>A	rs553299589
NM_001943.5(DSG2):c.523+2T>C	rs397516709
NM_001943.5(DSG2):c.882dup (p.Val295fs)	rs1187924885
NM_001943.5(DSG2):c.941C>A (p.Ser314Ter)	rs397516712

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