ClinVar Miner

List of variants in gene DSG2 studied for Arrhythmogenic right ventricular cardiomyopathy

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Total variants: 69
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HGVS dbSNP
NM_001943.4(DSG2):c.-153dupC rs886053708
NM_001943.5(DSG2):c.*1012C>T rs886053733
NM_001943.5(DSG2):c.*1036C>G rs191443311
NM_001943.5(DSG2):c.*131C>T rs146873880
NM_001943.5(DSG2):c.*1450G>A rs886053734
NM_001943.5(DSG2):c.*1473G>T rs886053735
NM_001943.5(DSG2):c.*1714_*1715dup rs10645928
NM_001943.5(DSG2):c.*1786G>T rs886053737
NM_001943.5(DSG2):c.*2034C>T rs886053738
NM_001943.5(DSG2):c.*25del rs886053717
NM_001943.5(DSG2):c.*351C>A rs886053720
NM_001943.5(DSG2):c.*419G>T rs552933757
NM_001943.5(DSG2):c.*599_*600del rs1491095224
NM_001943.5(DSG2):c.*601_*602TG[7] rs36022761
NM_001943.5(DSG2):c.*874C>T rs886053728
NM_001943.5(DSG2):c.*932_*933insA rs886053730
NM_001943.5(DSG2):c.*944del rs368604939
NM_001943.5(DSG2):c.*944dup rs368604939
NM_001943.5(DSG2):c.*960dup rs200149790
NM_001943.5(DSG2):c.*989C>T rs140755940
NM_001943.5(DSG2):c.-44C>A rs886053710
NM_001943.5(DSG2):c.-4T>G rs886053711
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala) rs191564916
NM_001943.5(DSG2):c.1014+1G>A rs587782939
NM_001943.5(DSG2):c.1017del (p.Glu339_Val340insTer) rs745457570
NM_001943.5(DSG2):c.1035GAA[1] (p.Lys346del) rs727502987
NM_001943.5(DSG2):c.1174G>A (p.Val392Ile) rs193922639
NM_001943.5(DSG2):c.1280+4AG[3] rs876657791
NM_001943.5(DSG2):c.137G>A (p.Arg46Gln) rs121913008
NM_001943.5(DSG2):c.146G>A (p.Arg49His) rs121913006
NM_001943.5(DSG2):c.1478A>G (p.Asn493Ser) rs375679311
NM_001943.5(DSG2):c.1543G>A (p.Val515Ile) rs2230235
NM_001943.5(DSG2):c.1562A>G (p.Asp521Gly) rs730880077
NM_001943.5(DSG2):c.1592T>G (p.Phe531Cys) rs200484060
NM_001943.5(DSG2):c.15G>C (p.Pro5=) rs772663614
NM_001943.5(DSG2):c.1643G>A (p.Arg548His) rs551034751
NM_001943.5(DSG2):c.166G>A (p.Val56Met) rs121913013
NM_001943.5(DSG2):c.1773_1774del (p.Cys591_Glu592delinsTer) rs397516703
NM_001943.5(DSG2):c.1880-2A>G rs397514038
NM_001943.5(DSG2):c.1912G>A (p.Gly638Arg) rs201564919
NM_001943.5(DSG2):c.2137G>A (p.Glu713Lys) rs79241126
NM_001943.5(DSG2):c.2162A>G (p.His721Arg) rs756912703
NM_001943.5(DSG2):c.2192A>C (p.Gln731Pro) rs202063433
NM_001943.5(DSG2):c.2252C>T (p.Thr751Ile) rs727502989
NM_001943.5(DSG2):c.2335-9T>C rs757355636
NM_001943.5(DSG2):c.2434G>T (p.Gly812Cys) rs121913010
NM_001943.5(DSG2):c.2471G>A (p.Arg824His) rs376858770
NM_001943.5(DSG2):c.2551del (p.Ile851fs) rs763907170
NM_001943.5(DSG2):c.2659A>G (p.Ser887Gly) rs1598826780
NM_001943.5(DSG2):c.2759T>G (p.Val920Gly) rs142841727
NM_001943.5(DSG2):c.2802A>G (p.Ile934Met) rs368584610
NM_001943.5(DSG2):c.2906C>T (p.Ala969Val) rs373598034
NM_001943.5(DSG2):c.3061_3062del (p.Ser1021fs) rs397516706
NM_001943.5(DSG2):c.3175T>A (p.Ser1059Thr) rs201786158
NM_001943.5(DSG2):c.391G>A (p.Ala131Thr) rs373542380
NM_001943.5(DSG2):c.445G>A (p.Val149Ile) rs372606274
NM_001943.5(DSG2):c.470C>T (p.Pro157Leu) rs587782938
NM_001943.5(DSG2):c.473T>G (p.Val158Gly) rs191143292
NM_001943.5(DSG2):c.523+2T>C rs397516709
NM_001943.5(DSG2):c.653G>A (p.Gly218Glu) rs794728082
NM_001943.5(DSG2):c.706A>G (p.Thr236Ala) rs727502985
NM_001943.5(DSG2):c.792T>A (p.Asp264Glu) rs869025388
NM_001943.5(DSG2):c.828+10A>C rs886053712
NM_001943.5(DSG2):c.874C>T (p.Arg292Cys) rs770921270
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
NM_001943.5(DSG2):c.961T>A (p.Phe321Ile) rs201040643
NM_001943.5(DSG2):c.991G>A (p.Glu331Lys) rs121913012

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