ClinVar Miner

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

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 67
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HGVS dbSNP gnomAD frequency
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala) rs191564916 0.00060
NM_001943.5(DSG2):c.1481A>C (p.Asp494Ala) rs193298428 0.00003
NM_001943.5(DSG2):c.3039C>A (p.Tyr1013Ter) rs539821357 0.00003
NM_001943.5(DSG2):c.2375_2379dup (p.Asp794fs) rs773328409 0.00001
NM_001943.5(DSG2):c.355C>T (p.Arg119Ter) rs753052874 0.00001
NM_001943.5(DSG2):c.379-1G>A rs1472037685 0.00001
NM_001943.5(DSG2):c.391G>A (p.Ala131Thr) rs373542380 0.00001
NM_001943.5(DSG2):c.523+2T>C rs397516709 0.00001
NM_001943.5(DSG2):c.792T>A (p.Asp264Glu) rs869025388 0.00001
NM_001943.5(DSG2):c.82-1G>A rs746353565 0.00001
NM_001943.5(DSG2):c.874C>T (p.Arg292Cys) rs770921270 0.00001
NM_001943.5(DSG2):c.880A>G (p.Lys294Glu) rs752432726 0.00001
NC_000018.10:g.(?_31519793)_(31519947_?)del
NC_000018.9:g.(?_29099325)_(29099910_?)del
NC_000018.9:g.(?_29099746)_(29099920_?)del
NM_001943.5(DSG2):c.1015-2A>C rs2144332473
NM_001943.5(DSG2):c.1017del (p.Glu339_Val340insTer) rs745457570
NM_001943.5(DSG2):c.1109dup (p.Thr371fs) rs1555627118
NM_001943.5(DSG2):c.1211C>G (p.Ser404Ter)
NM_001943.5(DSG2):c.1319_1320del (p.Val440fs) rs775256998
NM_001943.5(DSG2):c.1332_1354del (p.Ser445_Glu446insTer) rs2073222422
NM_001943.5(DSG2):c.1353del (p.Lys451fs)
NM_001943.5(DSG2):c.136C>T (p.Arg46Trp) rs752522753
NM_001943.5(DSG2):c.1385del (p.Asn462fs)
NM_001943.5(DSG2):c.1423+1G>T rs1257877047
NM_001943.5(DSG2):c.1433dup (p.Thr480fs)
NM_001943.5(DSG2):c.146G>A (p.Arg49His) rs121913006
NM_001943.5(DSG2):c.1652-2A>G
NM_001943.5(DSG2):c.169del (p.Ala57fs)
NM_001943.5(DSG2):c.1765dup (p.Thr589fs)
NM_001943.5(DSG2):c.1826dup (p.Leu610fs) rs1039633976
NM_001943.5(DSG2):c.1880-2A>G rs397514038
NM_001943.5(DSG2):c.2001+1G>A
NM_001943.5(DSG2):c.2001_2001+5del rs779360113
NM_001943.5(DSG2):c.216+1G>T rs1316380114
NM_001943.5(DSG2):c.217-2A>G rs2144315483
NM_001943.5(DSG2):c.2257del (p.Ala753fs) rs1567933176
NM_001943.5(DSG2):c.2300_2304del (p.Leu767fs)
NM_001943.5(DSG2):c.2434G>T (p.Gly812Cys) rs121913010
NM_001943.5(DSG2):c.2533del (p.Lys844_Ile845insTer) rs1375081885
NM_001943.5(DSG2):c.2551del (p.Ile851fs) rs763907170
NM_001943.5(DSG2):c.2817del (p.Tyr940fs) rs1567934773
NM_001943.5(DSG2):c.2857del (p.Leu953fs) rs2073308127
NM_001943.5(DSG2):c.2923del (p.Leu974_Val975insTer) rs794728084
NM_001943.5(DSG2):c.2990del (p.Gly997fs) rs1252426323
NM_001943.5(DSG2):c.3016C>T (p.Gln1006Ter)
NM_001943.5(DSG2):c.3052dup (p.Glu1018fs) rs1261674855
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.339dup (p.Thr114fs)
NM_001943.5(DSG2):c.382del (p.Thr128fs)
NM_001943.5(DSG2):c.390C>A (p.Tyr130Ter) rs369489095
NM_001943.5(DSG2):c.512_516del (p.Leu171fs) rs1568105371
NM_001943.5(DSG2):c.523+1G>A rs553299589
NM_001943.5(DSG2):c.523+1G>T rs553299589
NM_001943.5(DSG2):c.523+1_523+2del rs1598810829
NM_001943.5(DSG2):c.524-2A>G rs2144317638
NM_001943.5(DSG2):c.691-1G>A rs1555671441
NM_001943.5(DSG2):c.803_810dup (p.Val271fs) rs2073149649
NM_001943.5(DSG2):c.81+1G>C
NM_001943.5(DSG2):c.829-1G>A
NM_001943.5(DSG2):c.829-2A>T rs2144322548
NM_001943.5(DSG2):c.849_850insG (p.Asn284fs)
NM_001943.5(DSG2):c.850_851delinsGAT (p.Asn284fs)
NM_001943.5(DSG2):c.882dup (p.Val295fs) rs1187924885
NM_001943.5(DSG2):c.918G>A (p.Trp306Ter) rs121913007
NM_001943.5(DSG2):c.941C>A (p.Ser314Ter) rs397516712

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