ClinVar Miner

List of variants in gene DSG2 reported as pathogenic for arrhythmogenic right ventricular dysplasia 10

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 82
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001943.5(DSG2):c.166G>A (p.Val56Met) rs121913013 0.00150
NM_001943.5(DSG2):c.3039C>A (p.Tyr1013Ter) rs539821357 0.00003
NM_001943.5(DSG2):c.991G>A (p.Glu331Lys) rs121913012 0.00002
NM_001943.5(DSG2):c.137G>A (p.Arg46Gln) rs121913008 0.00001
NM_001943.5(DSG2):c.1520G>A (p.Cys507Tyr) rs121913009 0.00001
NM_001943.5(DSG2):c.1750C>T (p.Gln584Ter) rs794728086 0.00001
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.523+2T>C rs397516709 0.00001
NM_001943.5(DSG2):c.690+1G>A rs750176752 0.00001
NC_000018.9:g.(?_29078205)_(29102222_?)del
NC_000018.9:g.(?_29078215)_(29126706_?)del
NC_000018.9:g.(?_29110940)_(29118951_?)del
NC_000018.9:g.(?_29115213)_(29126706_?)del
NC_000018.9:g.(?_29115223)_(29118951_?)del
NM_001943.4(DSG2):c.1015del rs794728094
NM_001943.5(DSG2):c.1027G>T (p.Glu343Ter) rs1555627108
NM_001943.5(DSG2):c.1053_1056dup (p.Ile353fs) rs2144332585
NM_001943.5(DSG2):c.1319_1320del (p.Val440fs) rs775256998
NM_001943.5(DSG2):c.136C>T (p.Arg46Trp) rs752522753
NM_001943.5(DSG2):c.1385del (p.Asn462fs)
NM_001943.5(DSG2):c.1433dup (p.Thr480fs)
NM_001943.5(DSG2):c.146G>A (p.Arg49His) rs121913006
NM_001943.5(DSG2):c.1487dup (p.Cys496fs) rs730880347
NM_001943.5(DSG2):c.1672C>T (p.Gln558Ter) rs1375012922
NM_001943.5(DSG2):c.1689del (p.Arg565fs)
NM_001943.5(DSG2):c.1705C>T (p.Gln569Ter) rs2144346522
NM_001943.5(DSG2):c.1759dup (p.Thr587fs)
NM_001943.5(DSG2):c.1773_1774del (p.Cys591_Glu592delinsTer) rs397516703
NM_001943.5(DSG2):c.1801del (p.Glu601fs)
NM_001943.5(DSG2):c.1826dup (p.Leu610fs) rs1039633976
NM_001943.5(DSG2):c.1880-2A>G rs397514038
NM_001943.5(DSG2):c.2257del (p.Ala753fs) rs1567933176
NM_001943.5(DSG2):c.2321del (p.Asn774fs)
NM_001943.5(DSG2):c.2343_2344insAAGA (p.Ser782fs) rs1252006527
NM_001943.5(DSG2):c.2372_2373del (p.Thr791fs) rs794728098
NM_001943.5(DSG2):c.2397T>G (p.Tyr799Ter) rs200201181
NM_001943.5(DSG2):c.2434G>T (p.Gly812Cys) rs121913010
NM_001943.5(DSG2):c.2480_2712del (p.Asp827fs) rs2144359029
NM_001943.5(DSG2):c.2533del (p.Lys844_Ile845insTer) rs1375081885
NM_001943.5(DSG2):c.2551del (p.Ile851fs) rs763907170
NM_001943.5(DSG2):c.2554G>T (p.Glu852Ter)
NM_001943.5(DSG2):c.2617C>T (p.Gln873Ter)
NM_001943.5(DSG2):c.2620del (p.Thr874fs) rs755243947
NM_001943.5(DSG2):c.2761_2764dup (p.Thr922fs) rs1567934720
NM_001943.5(DSG2):c.2817del (p.Tyr940fs) rs1567934773
NM_001943.5(DSG2):c.2875_2876del (p.Gln959fs) rs727502990
NM_001943.5(DSG2):c.290del (p.Pro97fs)
NM_001943.5(DSG2):c.2923del (p.Leu974_Val975insTer) rs794728084
NM_001943.5(DSG2):c.2955del (p.Val986fs) rs1064794709
NM_001943.5(DSG2):c.2990del (p.Gly997fs) rs1252426323
NM_001943.5(DSG2):c.3052dup (p.Glu1018fs) rs1261674855
NM_001943.5(DSG2):c.3059_3062del (p.Glu1020fs) rs397516706
NM_001943.5(DSG2):c.307_308del (p.Val103fs) rs1555671201
NM_001943.5(DSG2):c.3340C>T (p.Gln1114Ter) rs776078563
NM_001943.5(DSG2):c.361G>T (p.Glu121Ter)
NM_001943.5(DSG2):c.423del (p.Lys141fs) rs2073125384
NM_001943.5(DSG2):c.464_465insT (p.Glu156fs) rs794728091
NM_001943.5(DSG2):c.495dup (p.Gly166fs) rs781532110
NM_001943.5(DSG2):c.498del (p.Ser167fs)
NM_001943.5(DSG2):c.505G>T (p.Glu169Ter)
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>C rs553299589
NM_001943.5(DSG2):c.527_533del (p.Thr176fs) rs2144317658
NM_001943.5(DSG2):c.613_658dup (p.Ile220delinsThrCysLeuSerSerSerValLeuProLysTer) rs2144317934
NM_001943.5(DSG2):c.621_626del (p.Tyr207_Pro209delinsTer) rs1555671331
NM_001943.5(DSG2):c.630del (p.Phe211fs)
NM_001943.5(DSG2):c.649dup (p.Thr217fs) rs1598811394
NM_001943.5(DSG2):c.676_680del (p.Thr226fs) rs2144318119
NM_001943.5(DSG2):c.745dup (p.Thr249fs) rs2073148989
NM_001943.5(DSG2):c.769C>T (p.Gln257Ter) rs794728083
NM_001943.5(DSG2):c.797A>G (p.Asn266Ser) rs121913011
NM_001943.5(DSG2):c.803_810dup (p.Val271fs) rs2073149649
NM_001943.5(DSG2):c.853C>T (p.Gln285Ter)
NM_001943.5(DSG2):c.871dup (p.Thr291fs) rs759944835
NM_001943.5(DSG2):c.882dup (p.Val295fs) rs1187924885
NM_001943.5(DSG2):c.909del (p.Asp304fs) rs2144322985
NM_001943.5(DSG2):c.912_941delinsAATTGGCTGGCAAATTTTACATTTGAAATGAAGGAGGTTATTTCCTTCATTTGAATTGGCTGGCAAATTTTACATTTGAAATGA (p.Asp304_Ser314delinsGluIleGlyTrpGlnIleLeuHisLeuLysTer)
NM_001943.5(DSG2):c.917G>A (p.Trp306Ter) rs2144323019
NM_001943.5(DSG2):c.918G>A (p.Trp306Ter) rs121913007
NM_001943.5(DSG2):c.91del (p.Thr31fs) rs758282201

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.