ClinVar Miner

List of variants in gene DSG2 reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 215
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HGVS dbSNP
NM_001943.4(DSG2):c.1015delG (p.Glu339Lysfs) rs794728094
NM_001943.5(DSG2):c.*2C>T rs183494886
NM_001943.5(DSG2):c.-16C>G rs1057523171
NM_001943.5(DSG2):c.-1G>C rs1012160082
NM_001943.5(DSG2):c.-22G>A rs955882030
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala) rs191564916
NM_001943.5(DSG2):c.1014+219G>T rs73416260
NM_001943.5(DSG2):c.1014+266T>C rs9947401
NM_001943.5(DSG2):c.1015-180C>A rs58713979
NM_001943.5(DSG2):c.1027G>T (p.Glu343Ter) rs1555627108
NM_001943.5(DSG2):c.1035GAA[1] (p.Lys346del) rs727502987
NM_001943.5(DSG2):c.1051A>G (p.Ser351Gly) rs139326669
NM_001943.5(DSG2):c.1072G>A (p.Ala358Thr) rs758537946
NM_001943.5(DSG2):c.1100A>G (p.Lys367Arg) rs1057518504
NM_001943.5(DSG2):c.1110T>C (p.Pro370=) rs772805008
NM_001943.5(DSG2):c.1130T>A (p.Val377Asp) rs794728085
NM_001943.5(DSG2):c.1174G>A (p.Val392Ile) rs193922639
NM_001943.5(DSG2):c.1195G>A (p.Glu399Lys) rs774863785
NM_001943.5(DSG2):c.121C>A (p.His41Asn) rs201499704
NM_001943.5(DSG2):c.1266A>G (p.Leu422=) rs770359142
NM_001943.5(DSG2):c.1280+149G>A rs12326068
NM_001943.5(DSG2):c.1280+18G>C rs141175168
NM_001943.5(DSG2):c.1280+234A>G rs10163532
NM_001943.5(DSG2):c.1280+287C>A rs74699553
NM_001943.5(DSG2):c.1280+4AG[3] rs876657791
NM_001943.5(DSG2):c.1281-16G>T rs756914573
NM_001943.5(DSG2):c.1281A>T (p.Arg427Ser) rs370547219
NM_001943.5(DSG2):c.1299T>C (p.Asp433=) rs367548984
NM_001943.5(DSG2):c.1303G>A (p.Asp435Asn) rs370509593
NM_001943.5(DSG2):c.1376A>G (p.Tyr459Cys) rs576404380
NM_001943.5(DSG2):c.137G>A (p.Arg46Gln) rs121913008
NM_001943.5(DSG2):c.1392A>G (p.Thr464=) rs373918593
NM_001943.5(DSG2):c.1397C>T (p.Thr466Ile) rs769137357
NM_001943.5(DSG2):c.1410G>A (p.Val470=) rs1036402724
NM_001943.5(DSG2):c.145C>T (p.Arg49Cys) rs762526848
NM_001943.5(DSG2):c.1463A>G (p.Asn488Ser) rs794728078
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.147C>T (p.Arg49=) rs531036279
NM_001943.5(DSG2):c.1491C>T (p.Pro497=) rs587780928
NM_001943.5(DSG2):c.151T>C (p.Trp51Arg) rs1064794367
NM_001943.5(DSG2):c.152G>C (p.Trp51Ser) rs397516702
NM_001943.5(DSG2):c.1543G>A (p.Val515Ile) rs2230235
NM_001943.5(DSG2):c.1550C>T (p.Ala517Val) rs200509948
NM_001943.5(DSG2):c.1555G>T (p.Asp519Tyr) rs778119035
NM_001943.5(DSG2):c.1573A>G (p.Asn525Asp) rs794728079
NM_001943.5(DSG2):c.1592T>G (p.Phe531Cys) rs200484060
NM_001943.5(DSG2):c.1605C>A (p.Asp535Glu) rs368718022
NM_001943.5(DSG2):c.1643G>A (p.Arg548His) rs551034751
NM_001943.5(DSG2):c.164C>T (p.Pro55Leu) rs748684045
NM_001943.5(DSG2):c.1651+70T>C rs2276150
NM_001943.5(DSG2):c.1652-12C>T rs140850369
NM_001943.5(DSG2):c.166G>A (p.Val56Met) rs121913013
NM_001943.5(DSG2):c.1688T>G (p.Leu563Arg) rs780469370
NM_001943.5(DSG2):c.175C>T (p.Arg59Trp) rs749602291
NM_001943.5(DSG2):c.1773_1774del (p.Cys591_Glu592delinsTer) rs397516703
NM_001943.5(DSG2):c.1781T>C (p.Leu594Pro) rs199681901
NM_001943.5(DSG2):c.1795T>C (p.Cys599Arg) rs762413624
NM_001943.5(DSG2):c.1808A>G (p.Gln603Arg) rs794728080
NM_001943.5(DSG2):c.1843A>G (p.Ile615Val) rs794728087
NM_001943.5(DSG2):c.1847C>T (p.Ala616Val) rs375527314
NM_001943.5(DSG2):c.1851C>T (p.Leu617=) rs202057770
NM_001943.5(DSG2):c.1875G>C (p.Leu625=) rs35743180
NM_001943.5(DSG2):c.1879+317T>C rs1791174
NM_001943.5(DSG2):c.1880-281T>C rs1667212
NM_001943.5(DSG2):c.1880-2A>G rs397514038
NM_001943.5(DSG2):c.1885C>T (p.Pro629Ser) rs200804638
NM_001943.5(DSG2):c.1911C>T (p.Cys637=) rs201654341
NM_001943.5(DSG2):c.1912G>A (p.Gly638Arg) rs201564919
NM_001943.5(DSG2):c.1914A>G (p.Gly638=) rs200395484
NM_001943.5(DSG2):c.1920C>T (p.Gly640=) rs775642244
NM_001943.5(DSG2):c.1959G>A (p.Met653Ile) rs794728088
NM_001943.5(DSG2):c.2001+20A>G rs746383404
NM_001943.5(DSG2):c.2001+211C>T rs2290128
NM_001943.5(DSG2):c.2001+244G>C rs2290129
NM_001943.5(DSG2):c.2001+308C>T rs7233222
NM_001943.5(DSG2):c.202A>G (p.Asn68Asp) rs1057518583
NM_001943.5(DSG2):c.2074A>G (p.Lys692Glu) rs997161591
NM_001943.5(DSG2):c.208A>G (p.Ile70Val) rs769713919
NM_001943.5(DSG2):c.2112T>G (p.Ile704Met) rs794728081
NM_001943.5(DSG2):c.2137G>A (p.Glu713Lys) rs79241126
NM_001943.5(DSG2):c.2155G>A (p.Glu719Lys) rs794728089
NM_001943.5(DSG2):c.216+16G>A rs200239610
NM_001943.5(DSG2):c.216+20A>C rs762768999
NM_001943.5(DSG2):c.216+3A>C rs774208829
NM_001943.5(DSG2):c.2165G>A (p.Arg722Lys) rs376819371
NM_001943.5(DSG2):c.217-5G>T rs80073511
NM_001943.5(DSG2):c.2192A>C (p.Gln731Pro) rs202063433
NM_001943.5(DSG2):c.220C>A (p.His74Asn) rs772406363
NM_001943.5(DSG2):c.2211C>T (p.Gly737=) rs74578148
NM_001943.5(DSG2):c.221A>G (p.His74Arg) rs201855245
NM_001943.5(DSG2):c.222T>C (p.His74=) rs367797047
NM_001943.5(DSG2):c.2234C>T (p.Thr745Met) rs727504783
NM_001943.5(DSG2):c.2241C>T (p.Thr747=) rs767628208
NM_001943.5(DSG2):c.2242G>T (p.Ala748Ser) rs763994831
NM_001943.5(DSG2):c.2275G>A (p.Gly759Arg) rs765793636
NM_001943.5(DSG2):c.2315T>G (p.Leu772Ter) rs794728097
NM_001943.5(DSG2):c.2334+9G>A rs776516070
NM_001943.5(DSG2):c.2340G>T (p.Ala780=) rs375539435
NM_001943.5(DSG2):c.2349C>A (p.Tyr783Ter) rs1064793983
NM_001943.5(DSG2):c.2358del (p.Asp787fs) rs1064793103
NM_001943.5(DSG2):c.2360A>G (p.Asp787Gly) rs369868954
NM_001943.5(DSG2):c.2368C>T (p.His790Tyr) rs114544564
NM_001943.5(DSG2):c.2372_2373del (p.Thr791fs) rs794728098
NM_001943.5(DSG2):c.2399C>G (p.Ser800Cys) rs794728090
NM_001943.5(DSG2):c.2434G>A (p.Gly812Ser) rs121913010
NM_001943.5(DSG2):c.2470C>T (p.Arg824Cys) rs201845396
NM_001943.5(DSG2):c.2505A>G (p.Thr835=) rs1042769
NM_001943.5(DSG2):c.2548G>C (p.Glu850Gln) rs794728099
NM_001943.5(DSG2):c.2583A>G (p.Thr861=) rs774775322
NM_001943.5(DSG2):c.2586T>C (p.Ser862=) rs78310842
NM_001943.5(DSG2):c.2587A>C (p.Met863Leu) rs16962093
NM_001943.5(DSG2):c.2593A>C (p.Thr865Pro) rs866344768
NM_001943.5(DSG2):c.2628T>C (p.Val876=) rs775842543
NM_001943.5(DSG2):c.2643C>T (p.Thr881=) rs180695545
NM_001943.5(DSG2):c.2646CTC[1] (p.Ser884del) rs794728095
NM_001943.5(DSG2):c.2647T>C (p.Ser883Pro) rs34417028
NM_001943.5(DSG2):c.2690C>A (p.Ala897Asp) rs765238150
NM_001943.5(DSG2):c.2703A>G (p.Lys901=) rs113591687
NM_001943.5(DSG2):c.2708C>T (p.Thr903Ile) rs34065672
NM_001943.5(DSG2):c.2714A>C (p.Glu905Ala) rs1555628237
NM_001943.5(DSG2):c.273A>G (p.Gly91=) rs376944801
NM_001943.5(DSG2):c.2750C>T (p.Ala917Val) rs775670183
NM_001943.5(DSG2):c.2751G>A (p.Ala917=) rs763063602
NM_001943.5(DSG2):c.2759T>G (p.Val920Gly) rs142841727
NM_001943.5(DSG2):c.2780C>T (p.Pro927Leu) rs146402368
NM_001943.5(DSG2):c.2880C>G (p.Ser960Arg) rs374807974
NM_001943.5(DSG2):c.2886T>G (p.Ile962Met) rs79229040
NM_001943.5(DSG2):c.2923del (p.Leu974_Val975insTer) rs794728084
NM_001943.5(DSG2):c.2953G>A (p.Val985Ile) rs749540432
NM_001943.5(DSG2):c.2955del (p.Val986fs) rs1064794709
NM_001943.5(DSG2):c.3039C>A (p.Tyr1013Ter) rs539821357
NM_001943.5(DSG2):c.3040G>A (p.Val1014Ile) rs200830807
NM_001943.5(DSG2):c.3044T>C (p.Met1015Thr) rs886053716
NM_001943.5(DSG2):c.3056G>A (p.Arg1019Lys) rs1057520867
NM_001943.5(DSG2):c.307_308del (p.Val103fs) rs1555671201
NM_001943.5(DSG2):c.3082G>A (p.Gly1028Ser) rs150864240
NM_001943.5(DSG2):c.3118G>A (p.Val1040Ile) rs201966605
NM_001943.5(DSG2):c.3144_3147del (p.Arg1049fs) rs758822081
NM_001943.5(DSG2):c.3167C>T (p.Thr1056Ile) rs767538450
NM_001943.5(DSG2):c.3195T>C (p.Thr1065=) rs544981484
NM_001943.5(DSG2):c.3225G>A (p.Thr1075=) rs773954315
NM_001943.5(DSG2):c.3233G>C (p.Gly1078Ala) rs1064795829
NM_001943.5(DSG2):c.3244C>G (p.Pro1082Ala) rs191300661
NM_001943.5(DSG2):c.3266G>A (p.Gly1089Asp) rs200264407
NM_001943.5(DSG2):c.3291T>C (p.Asn1097=) rs757473850
NM_001943.5(DSG2):c.3295A>G (p.Thr1099Ala) rs79068489
NM_001943.5(DSG2):c.3353C>T (p.Ser1118Phe) rs368703304
NM_001943.5(DSG2):c.379-22_379-18del rs1598810622
NM_001943.5(DSG2):c.379-3C>T rs376556524
NM_001943.5(DSG2):c.391G>A (p.Ala131Thr) rs373542380
NM_001943.5(DSG2):c.430G>A (p.Glu144Lys) rs199842209
NM_001943.5(DSG2):c.437G>T (p.Arg146Leu) rs113451409
NM_001943.5(DSG2):c.44T>A (p.Leu15Gln) rs372174546
NM_001943.5(DSG2):c.45+257A>C rs9945420
NM_001943.5(DSG2):c.46-11T>C rs757891590
NM_001943.5(DSG2):c.46-3C>T rs777302616
NM_001943.5(DSG2):c.464_465insT (p.Glu156fs) rs794728091
NM_001943.5(DSG2):c.46A>G (p.Ile16Val) rs376660601
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.495dup (p.Gly166fs) rs781532110
NM_001943.5(DSG2):c.523+20T>C rs775127367
NM_001943.5(DSG2):c.523+24T>A rs55657337
NM_001943.5(DSG2):c.523+252A>G rs62095191
NM_001943.5(DSG2):c.523+2T>C rs397516709
NM_001943.5(DSG2):c.523+9C>T rs587780926
NM_001943.5(DSG2):c.524-243G>C rs2256638
NM_001943.5(DSG2):c.524-9T>A rs11876289
NM_001943.5(DSG2):c.545A>G (p.Asn182Ser) rs368512832
NM_001943.5(DSG2):c.55A>G (p.Asn19Asp) rs185266383
NM_001943.5(DSG2):c.562G>A (p.Glu188Lys) rs763948986
NM_001943.5(DSG2):c.57C>T (p.Asn19=) rs587780925
NM_001943.5(DSG2):c.600C>A (p.Ile200=) rs535646295
NM_001943.5(DSG2):c.601_605del (p.Val201fs) rs794728092
NM_001943.5(DSG2):c.613C>T (p.Pro205Ser) rs200946320
NM_001943.5(DSG2):c.618_625del (p.Tyr207fs) rs1598811348
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.667del (p.Thr223fs) rs1555671335
NM_001943.5(DSG2):c.691-147T>C rs2848664
NM_001943.5(DSG2):c.691-207G>A rs3737375
NM_001943.5(DSG2):c.691-276A>G rs73956201
NM_001943.5(DSG2):c.6G>A (p.Ala2=) rs368809971
NM_001943.5(DSG2):c.716T>C (p.Val239Ala) rs200997703
NM_001943.5(DSG2):c.769C>T (p.Gln257Ter) rs794728083
NM_001943.5(DSG2):c.770A>G (p.Gln257Arg) rs765118809
NM_001943.5(DSG2):c.81+108C>T rs9807377
NM_001943.5(DSG2):c.81+10C>T rs764150806
NM_001943.5(DSG2):c.81+237A>G rs9807379
NM_001943.5(DSG2):c.81+86G>A rs2276149
NM_001943.5(DSG2):c.82-10A>G rs1437170752
NM_001943.5(DSG2):c.828+13C>T rs180926981
NM_001943.5(DSG2):c.829-19_829-18del rs111241096
NM_001943.5(DSG2):c.829-4G>A rs376424003
NM_001943.5(DSG2):c.829_840del (p.Leu277_Met280del) rs794728093
NM_001943.5(DSG2):c.852T>C (p.Asn284=) rs62095193
NM_001943.5(DSG2):c.862G>A (p.Val288Ile) rs780374242
NM_001943.5(DSG2):c.86_87delinsATTCTATTGTTGTGCTATTGTTAT (p.Leu29fs) rs794728100
NM_001943.5(DSG2):c.872C>T (p.Thr291Met) rs774563205
NM_001943.5(DSG2):c.875G>A (p.Arg292His) rs185821167
NM_001943.5(DSG2):c.875G>T (p.Arg292Leu) rs185821167
NM_001943.5(DSG2):c.877A>T (p.Ile293Leu) rs2230234
NM_001943.5(DSG2):c.885G>A (p.Val295=) rs534674777
NM_001943.5(DSG2):c.888C>T (p.Phe296=) rs975297970
NM_001943.5(DSG2):c.889G>A (p.Asp297Asn) rs751012696
NM_001943.5(DSG2):c.918G>A (p.Trp306Ter) rs121913007
NM_001943.5(DSG2):c.91del (p.Thr31fs) rs758282201
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.961T>A (p.Phe321Ile) rs201040643
NM_001943.5(DSG2):c.973A>G (p.Thr325Ala) rs745763739
NM_001943.5(DSG2):c.98A>G (p.Asn33Ser) rs727505205
NM_001943.5(DSG2):c.990C>G (p.Asn330Lys) rs140575919
NM_001943.5(DSG2):c.990C>T (p.Asn330=) rs140575919

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