ClinVar Miner

List of variants in gene DSG2 reported as uncertain significance by GeneDx

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Gene type:
ClinVar version:
Total variants: 122
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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.716T>C (p.Val239Ala) rs200997703 0.00037
NM_001943.5(DSG2):c.1912G>A (p.Gly638Arg) rs201564919 0.00016
NM_001943.5(DSG2):c.2434G>A (p.Gly812Ser) rs121913010 0.00016
NM_001943.5(DSG2):c.2305G>A (p.Glu769Lys) rs371146201 0.00015
NM_001943.5(DSG2):c.3353C>T (p.Ser1118Phe) rs368703304 0.00014
NM_001943.5(DSG2):c.430G>A (p.Glu144Lys) rs199842209 0.00014
NM_001943.5(DSG2):c.2744G>C (p.Arg915Thr) rs375358300 0.00013
NM_001943.5(DSG2):c.545A>G (p.Asn182Ser) rs368512832 0.00013
NM_001943.5(DSG2):c.1478A>G (p.Asn493Ser) rs375679311 0.00011
NM_001943.5(DSG2):c.2360A>G (p.Asp787Gly) rs369868954 0.00011
NM_001943.5(DSG2):c.2506C>G (p.Leu836Val) rs767979763 0.00011
NM_001943.5(DSG2):c.1397C>T (p.Thr466Ile) rs769137357 0.00007
NM_001943.5(DSG2):c.1643G>A (p.Arg548His) rs551034751 0.00006
NM_001943.5(DSG2):c.2033G>C (p.Gly678Ala) rs372494397 0.00006
NM_001943.5(DSG2):c.98A>G (p.Asn33Ser) rs727505205 0.00006
NM_001943.5(DSG2):c.175C>T (p.Arg59Trp) rs749602291 0.00005
NM_001943.5(DSG2):c.2275G>A (p.Gly759Arg) rs765793636 0.00005
NM_001943.5(DSG2):c.2341G>T (p.Ala781Ser) rs760402926 0.00005
NM_001943.5(DSG2):c.2780C>T (p.Pro927Leu) rs146402368 0.00005
NM_001943.5(DSG2):c.862G>A (p.Val288Ile) rs780374242 0.00005
NM_001943.5(DSG2):c.961T>A (p.Phe321Ile) rs201040643 0.00005
NM_001943.5(DSG2):c.1063G>A (p.Ala355Thr) rs201046640 0.00004
NM_001943.5(DSG2):c.1204G>A (p.Asp402Asn) rs397516701 0.00004
NM_001943.5(DSG2):c.1837G>A (p.Ala613Thr) rs368257724 0.00004
NM_001943.5(DSG2):c.1885C>T (p.Pro629Ser) rs200804638 0.00004
NM_001943.5(DSG2):c.2004G>A (p.Val668=) rs773645222 0.00004
NM_001943.5(DSG2):c.208A>G (p.Ile70Val) rs769713919 0.00004
NM_001943.5(DSG2):c.2328C>A (p.Phe776Leu) rs771104668 0.00004
NM_001943.5(DSG2):c.3167C>T (p.Thr1056Ile) rs767538450 0.00004
NM_001943.5(DSG2):c.3293C>G (p.Ser1098Cys) rs2848673 0.00004
NM_001943.5(DSG2):c.1555G>T (p.Asp519Tyr) rs778119035 0.00003
NM_001943.5(DSG2):c.216+3A>C rs774208829 0.00003
NM_001943.5(DSG2):c.2234C>T (p.Thr745Met) rs727504783 0.00003
NM_001943.5(DSG2):c.3039C>A (p.Tyr1013Ter) rs539821357 0.00003
NM_001943.5(DSG2):c.806T>C (p.Ile269Thr) rs727502986 0.00003
NM_001943.5(DSG2):c.1195G>A (p.Glu399Lys) rs774863785 0.00002
NM_001943.5(DSG2):c.1503G>T (p.Glu501Asp) rs1191142951 0.00002
NM_001943.5(DSG2):c.2165G>A (p.Arg722Lys) rs376819371 0.00002
NM_001943.5(DSG2):c.2339C>T (p.Ala780Val) rs547406532 0.00002
NM_001943.5(DSG2):c.2569C>T (p.Pro857Ser) rs775091459 0.00002
NM_001943.5(DSG2):c.527C>T (p.Thr176Ile) rs536617217 0.00002
NM_001943.5(DSG2):c.973A>G (p.Thr325Ala) rs745763739 0.00002
NM_001943.5(DSG2):c.991G>A (p.Glu331Lys) rs121913012 0.00002
NM_001943.5(DSG2):c.1013A>T (p.Lys338Met) rs1454000095 0.00001
NM_001943.5(DSG2):c.1072G>A (p.Ala358Thr) rs758537946 0.00001
NM_001943.5(DSG2):c.1281A>T (p.Arg427Ser) rs370547219 0.00001
NM_001943.5(DSG2):c.128A>G (p.His43Arg) rs370922106 0.00001
NM_001943.5(DSG2):c.1466T>C (p.Val489Ala) rs748619993 0.00001
NM_001943.5(DSG2):c.1520G>A (p.Cys507Tyr) rs121913009 0.00001
NM_001943.5(DSG2):c.1592T>G (p.Phe531Cys) rs200484060 0.00001
NM_001943.5(DSG2):c.164C>T (p.Pro55Leu) rs748684045 0.00001
NM_001943.5(DSG2):c.1727A>G (p.Gln576Arg) rs374071428 0.00001
NM_001943.5(DSG2):c.1829T>C (p.Leu610Pro) rs755196345 0.00001
NM_001943.5(DSG2):c.1843A>G (p.Ile615Val) rs794728087 0.00001
NM_001943.5(DSG2):c.2074A>G (p.Lys692Glu) rs997161591 0.00001
NM_001943.5(DSG2):c.220C>A (p.His74Asn) rs772406363 0.00001
NM_001943.5(DSG2):c.2399C>G (p.Ser800Cys) rs794728090 0.00001
NM_001943.5(DSG2):c.2442C>T (p.Cys814=) rs1394059699 0.00001
NM_001943.5(DSG2):c.2648C>T (p.Ser883Phe) rs371498622 0.00001
NM_001943.5(DSG2):c.2690C>A (p.Ala897Asp) rs765238150 0.00001
NM_001943.5(DSG2):c.269C>T (p.Thr90Ile) rs772744115 0.00001
NM_001943.5(DSG2):c.2953G>A (p.Val985Ile) rs749540432 0.00001
NM_001943.5(DSG2):c.3044T>C (p.Met1015Thr) rs886053716 0.00001
NM_001943.5(DSG2):c.391G>A (p.Ala131Thr) rs373542380 0.00001
NM_001943.5(DSG2):c.46A>G (p.Ile16Val) rs376660601 0.00001
NM_001943.5(DSG2):c.470C>T (p.Pro157Leu) rs587782938 0.00001
NM_001943.5(DSG2):c.523C>T (p.His175Tyr) rs375422019 0.00001
NM_001943.5(DSG2):c.562G>A (p.Glu188Lys) rs763948986 0.00001
NM_001943.5(DSG2):c.581C>T (p.Ser194Leu) rs374875442 0.00001
NM_001943.5(DSG2):c.613C>T (p.Pro205Ser) rs200946320 0.00001
NM_001943.5(DSG2):c.770A>G (p.Gln257Arg) rs765118809 0.00001
NM_001943.5(DSG2):c.872C>T (p.Thr291Met) rs774563205 0.00001
NM_001943.5(DSG2):c.874C>T (p.Arg292Cys) rs770921270 0.00001
NM_001943.5(DSG2):c.889G>A (p.Asp297Asn) rs751012696 0.00001
NM_001943.5(DSG2):c.908C>T (p.Ser303Phe) rs757792714 0.00001
NM_001943.5(DSG2):c.1016A>C (p.Glu339Ala)
NM_001943.5(DSG2):c.1018G>T (p.Val340Leu) rs1369312425
NM_001943.5(DSG2):c.1035GAA[1] (p.Lys346del) rs727502987
NM_001943.5(DSG2):c.1100A>G (p.Lys367Arg) rs1057518504
NM_001943.5(DSG2):c.1130T>A (p.Val377Asp) rs794728085
NM_001943.5(DSG2):c.1274A>C (p.His425Pro) rs746180213
NM_001943.5(DSG2):c.151T>C (p.Trp51Arg) rs1064794367
NM_001943.5(DSG2):c.1561G>A (p.Asp521Asn) rs2144341791
NM_001943.5(DSG2):c.1605C>A (p.Asp535Glu) rs368718022
NM_001943.5(DSG2):c.1752_1784del (p.Gln584_Leu594del) rs1333431543
NM_001943.5(DSG2):c.1795T>C (p.Cys599Arg) rs762413624
NM_001943.5(DSG2):c.1959G>A (p.Met653Ile) rs794728088
NM_001943.5(DSG2):c.202A>G (p.Asn68Asp) rs1057518583
NM_001943.5(DSG2):c.2090A>G (p.Lys697Arg) rs2144353103
NM_001943.5(DSG2):c.2155G>A (p.Glu719Lys) rs794728089
NM_001943.5(DSG2):c.2215A>T (p.Ile739Phe) rs772240008
NM_001943.5(DSG2):c.2242G>T (p.Ala748Ser) rs763994831
NM_001943.5(DSG2):c.2335-6_2338dup
NM_001943.5(DSG2):c.2548G>C (p.Glu850Gln) rs794728099
NM_001943.5(DSG2):c.2593A>C (p.Thr865Pro) rs866344768
NM_001943.5(DSG2):c.2646CTC[1] (p.Ser884del) rs794728095
NM_001943.5(DSG2):c.2714A>C (p.Glu905Ala) rs1555628237
NM_001943.5(DSG2):c.2923del (p.Leu974_Val975insTer) rs794728084
NM_001943.5(DSG2):c.2955del (p.Val986fs) rs1064794709
NM_001943.5(DSG2):c.3143_3160dup (p.Glu1048_Pro1053dup) rs1319078257
NM_001943.5(DSG2):c.3144_3147del (p.Arg1049fs) rs758822081
NM_001943.5(DSG2):c.3233G>C (p.Gly1078Ala) rs1064795829
NM_001943.5(DSG2):c.3266G>T (p.Gly1089Val) rs200264407
NM_001943.5(DSG2):c.3296C>T (p.Thr1099Ile) rs2144361989
NM_001943.5(DSG2):c.500C>G (p.Ser167Cys)
NM_001943.5(DSG2):c.593A>C (p.Tyr198Ser)
NM_001943.5(DSG2):c.601G>A (p.Val201Ile) rs184100321
NM_001943.5(DSG2):c.601G>T (p.Val201Leu) rs184100321
NM_001943.5(DSG2):c.650C>T (p.Thr217Ile) rs776720174
NM_001943.5(DSG2):c.653G>T (p.Gly218Val) rs794728082
NM_001943.5(DSG2):c.781C>T (p.Arg261Cys) rs146194893
NM_001943.5(DSG2):c.803A>T (p.Asn268Ile) rs942590973
NM_001943.5(DSG2):c.828_828+2del rs786204292
NM_001943.5(DSG2):c.875G>A (p.Arg292His) rs185821167
NM_001943.5(DSG2):c.893C>G (p.Ala298Gly) rs1356039985
NM_001943.5(DSG2):c.905G>A (p.Gly302Asp) rs1338174918
NM_001943.5(DSG2):c.920T>G (p.Leu307Arg)
NM_001943.5(DSG2):c.928T>G (p.Phe310Val) rs1555671479
NM_001943.5(DSG2):c.955G>A (p.Gly319Ser) rs1064796086
NM_001943.5(DSG2):c.983A>G (p.Gln328Arg)
NM_001943.5(DSG2):c.990C>G (p.Asn330Lys) rs140575919

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