ClinVar Miner

List of variants in gene MSH6 reported as pathogenic by GeneDx

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Gene type:
ClinVar version:
Total variants: 207
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HGVS dbSNP gnomAD frequency
NM_000179.3(MSH6):c.10C>T (p.Gln4Ter) rs786201042 0.00002
NM_000179.3(MSH6):c.3202C>T (p.Arg1068Ter) rs63749843 0.00002
NM_000179.3(MSH6):c.1444C>T (p.Arg482Ter) rs63750909 0.00001
NM_000179.3(MSH6):c.2057G>A (p.Gly686Asp) rs587779227 0.00001
NM_000179.3(MSH6):c.2731C>T (p.Arg911Ter) rs63751017 0.00001
NM_000179.3(MSH6):c.2779dup (p.Ile927fs) rs587782277 0.00001
NM_000179.3(MSH6):c.3103C>T (p.Arg1035Ter) rs63749999 0.00001
NM_000179.3(MSH6):c.3487G>T (p.Glu1163Ter) rs587779267 0.00001
NM_000179.3(MSH6):c.3514dup (p.Arg1172fs) rs63751327 0.00001
NM_000179.3(MSH6):c.3939_3957dup (p.Ala1320delinsSerLysGlyThrTer) rs63750767 0.00001
NM_000179.3(MSH6):c.467C>G (p.Ser156Ter) rs63749873 0.00001
NM_000179.3(MSH6):c.651dup (p.Lys218Ter) rs63750955 0.00001
NM_000179.3(MSH6):c.742del (p.Arg248fs) rs587781691 0.00001
NM_000179.3(MSH6):c.892C>T (p.Arg298Ter) rs146816935 0.00001
NM_000179.2(MSH6):c.3647delG rs1064795629
NM_000179.3(MSH6):c.1012A>T (p.Arg338Ter) rs1114167804
NM_000179.3(MSH6):c.1039_1040insC (p.Glu347fs) rs1553412441
NM_000179.3(MSH6):c.1059dup (p.Gly354fs) rs876658728
NM_000179.3(MSH6):c.1115G>A (p.Trp372Ter) rs1114167731
NM_000179.3(MSH6):c.1135_1139del (p.Arg378_Arg379insTer) rs267608077
NM_000179.3(MSH6):c.1168_1170delinsAA (p.Asp390fs) rs863225398
NM_000179.3(MSH6):c.1189dup (p.Tyr397fs) rs1553412609
NM_000179.3(MSH6):c.1190_1191del (p.Tyr397fs) rs63750439
NM_000179.3(MSH6):c.1198_1219delinsTCATC (p.Glu400fs) rs1064795790
NM_000179.3(MSH6):c.1238G>A (p.Trp413Ter) rs786201049
NM_000179.3(MSH6):c.1241G>A (p.Trp414Ter) rs587779914
NM_000179.3(MSH6):c.1243C>T (p.Gln415Ter) rs1114167756
NM_000179.3(MSH6):c.1255_1268del (p.Gln419fs) rs876661251
NM_000179.3(MSH6):c.1299T>G (p.Tyr433Ter) rs267608055
NM_000179.3(MSH6):c.1352del (p.Phe451fs) rs869312769
NM_000179.3(MSH6):c.1367G>A (p.Trp456Ter) rs587780538
NM_000179.3(MSH6):c.1430dup (p.Tyr478fs) rs1114167746
NM_000179.3(MSH6):c.1483C>T (p.Arg495Ter) rs587779212
NM_000179.3(MSH6):c.1502_1511del (p.His501fs) rs876661044
NM_000179.3(MSH6):c.1571dup (p.Tyr524Ter) rs1553412966
NM_000179.3(MSH6):c.1572C>A (p.Tyr524Ter) rs587779215
NM_000179.3(MSH6):c.1572C>G (p.Tyr524Ter) rs587779215
NM_000179.3(MSH6):c.1596_1597del (p.Asn534fs) rs1064794388
NM_000179.3(MSH6):c.1610_1613del (p.Lys537fs) rs863224829
NM_000179.3(MSH6):c.1619_1620del (p.Leu540fs) rs1553413006
NM_000179.3(MSH6):c.1634_1635del (p.Lys545fs) rs267608064
NM_000179.3(MSH6):c.1634_1637del (p.Lys545fs) rs63749874
NM_000179.3(MSH6):c.1637_1638del (p.Glu546fs) rs267608076
NM_000179.3(MSH6):c.1645del (p.Ser549fs) rs876661033
NM_000179.3(MSH6):c.1691C>A (p.Ser564Ter) rs864622153
NM_000179.3(MSH6):c.1691C>G (p.Ser564Ter) rs864622153
NM_000179.3(MSH6):c.1705_1706del (p.Phe569fs) rs587783056
NM_000179.3(MSH6):c.1714C>T (p.Gln572Ter) rs1064795256
NM_000179.3(MSH6):c.1721C>G (p.Ser574Ter) rs1669365820
NM_000179.3(MSH6):c.1762_1763insT (p.His588fs) rs1553413138
NM_000179.3(MSH6):c.1789G>T (p.Glu597Ter) rs1553413178
NM_000179.3(MSH6):c.1795G>T (p.Gly599Ter) rs756043669
NM_000179.3(MSH6):c.1805C>G (p.Ser602Ter) rs730881816
NM_000179.3(MSH6):c.1815_1816del (p.Lys606fs) rs1060502886
NM_000179.3(MSH6):c.1819dup (p.Thr607fs) rs587779221
NM_000179.3(MSH6):c.1842del (p.Cys615fs) rs730881825
NM_000179.3(MSH6):c.1876C>T (p.Gln626Ter) rs1553413253
NM_000179.3(MSH6):c.1901T>A (p.Leu634Ter) rs63751097
NM_000179.3(MSH6):c.1901_1902del (p.Thr633_Leu634insTer) rs267608082
NM_000179.3(MSH6):c.1921G>T (p.Glu641Ter) rs1553413305
NM_000179.3(MSH6):c.1933G>T (p.Glu645Ter) rs1064795591
NM_000179.3(MSH6):c.1969C>T (p.Gln657Ter) rs1114167709
NM_000179.3(MSH6):c.1969del (p.Gln657fs) rs876661205
NM_000179.3(MSH6):c.1998_1999del (p.Asp667fs) rs1064794028
NM_000179.3(MSH6):c.2028_2029del (p.Lys676_Ser677insTer) rs1064794055
NM_000179.3(MSH6):c.2050del (p.Ala683_Leu684insTer) rs1553413424
NM_000179.3(MSH6):c.2061T>A (p.Cys687Ter) rs267608068
NM_000179.3(MSH6):c.2062_2063del (p.Val688fs) rs63750075
NM_000179.3(MSH6):c.2079dup (p.Cys694fs) rs267608083
NM_000179.3(MSH6):c.2102dup (p.Leu701fs) rs2104388702
NM_000179.3(MSH6):c.2122G>T (p.Glu708Ter) rs1064795960
NM_000179.3(MSH6):c.2127T>A (p.Tyr709Ter) rs587779232
NM_000179.3(MSH6):c.2147_2148del (p.Thr716fs) rs786204048
NM_000179.3(MSH6):c.2150_2153del (p.Val717fs) rs267608058
NM_000179.3(MSH6):c.2194C>T (p.Arg732Ter) rs63751127
NM_000179.3(MSH6):c.2230dup (p.Glu744fs) rs786201050
NM_000179.3(MSH6):c.2269_2270del (p.Thr757fs) rs876661025
NM_000179.3(MSH6):c.2290dup (p.Thr764fs) rs1553413663
NM_000179.3(MSH6):c.2314C>T (p.Arg772Trp) rs63750138
NM_000179.3(MSH6):c.233_254dup (p.Thr86fs) rs1553408413
NM_000179.3(MSH6):c.2348_2349del (p.Leu782_Cys783insTer) rs267608065
NM_000179.3(MSH6):c.2354_2355insAGCATTGGCTTTGTGCCCCACTCTGTAACCA (p.His785delinsGlnAlaLeuAlaLeuCysProThrLeuTer) rs876661193
NM_000179.3(MSH6):c.2371del (p.Arg791fs) rs886041913
NM_000179.3(MSH6):c.2500_2501del (p.Gln835fs) rs1064794164
NM_000179.3(MSH6):c.2503C>T (p.Gln835Ter) rs63751321
NM_000179.3(MSH6):c.2521del (p.Arg841fs) rs1114167771
NM_000179.3(MSH6):c.2653A>T (p.Lys885Ter) rs587782593
NM_000179.3(MSH6):c.2665dup (p.Gln889fs) rs1553413985
NM_000179.3(MSH6):c.2690dup (p.Asn897fs) rs1553414010
NM_000179.3(MSH6):c.2719_2720del (p.Val907fs) rs63750904
NM_000179.3(MSH6):c.2725_2729del (p.Leu909fs) rs1553414058
NM_000179.3(MSH6):c.2764C>T (p.Arg922Ter) rs587779246
NM_000179.3(MSH6):c.2805dup (p.Asp936Ter) rs876659189
NM_000179.3(MSH6):c.2832_2833del (p.Ile944fs) rs730881827
NM_000179.3(MSH6):c.2848_2849del (p.Ser950fs) rs869312770
NM_000179.3(MSH6):c.2862C>G (p.Tyr954Ter) rs1064793671
NM_000179.3(MSH6):c.2863del (p.Tyr954_Leu955insTer) rs1114167714
NM_000179.3(MSH6):c.2906_2907del (p.Tyr969fs) rs786203924
NM_000179.3(MSH6):c.2910G>A (p.Trp970Ter) rs765411990
NM_000179.3(MSH6):c.2931C>G (p.Tyr977Ter) rs63750111
NM_000179.3(MSH6):c.2932C>T (p.Gln978Ter) rs587781372
NM_000179.3(MSH6):c.2964dup (p.Asn989fs) rs587781659
NM_000179.3(MSH6):c.2989A>T (p.Lys997Ter) rs1064794943
NM_000179.3(MSH6):c.3013C>T (p.Arg1005Ter) rs63750563
NM_000179.3(MSH6):c.3018C>A (p.Tyr1006Ter) rs1553414395
NM_000179.3(MSH6):c.3037_3041del (p.Lys1013fs) rs587782712
NM_000179.3(MSH6):c.3083C>G (p.Ser1028Ter) rs876660853
NM_000179.3(MSH6):c.3119_3120del (p.Asn1039_Phe1040insTer) rs267608042
NM_000179.3(MSH6):c.3140G>A (p.Trp1047Ter) rs1064794302
NM_000179.3(MSH6):c.3142C>T (p.Gln1048Ter) rs200492211
NM_000179.3(MSH6):c.3155_3156del (p.Glu1052fs) rs63750833
NM_000179.3(MSH6):c.3163dup (p.Ala1055fs) rs878853729
NM_000179.3(MSH6):c.3172+1G>T rs587779255
NM_000179.3(MSH6):c.3173-2A>T rs1553331242
NM_000179.3(MSH6):c.3188T>G (p.Leu1063Arg) rs1060502901
NM_000179.3(MSH6):c.3198_3199del (p.Tyr1066_Ser1067delinsTer) rs63749821
NM_000179.3(MSH6):c.3226dup (p.Arg1076fs) rs1553331304
NM_000179.3(MSH6):c.3254_3255delinsT (p.Thr1085fs) rs1553331378
NM_000179.3(MSH6):c.3261del (p.Phe1088fs) rs267608078
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs) rs267608078
NM_000179.3(MSH6):c.3267dup (p.Glu1090fs) rs1553331434
NM_000179.3(MSH6):c.3268_3274del (p.Glu1090fs) rs587779259
NM_000179.3(MSH6):c.3312dup (p.Gly1105fs) rs267608092
NM_000179.3(MSH6):c.3332_3335dup (p.Asp1112delinsGluTer) rs587782562
NM_000179.3(MSH6):c.3379_3438+5del rs1553331676
NM_000179.3(MSH6):c.3416del (p.Gly1139fs) rs587781544
NM_000179.3(MSH6):c.3422del (p.Ser1141fs) rs1553331760
NM_000179.3(MSH6):c.3436C>T (p.Gln1146Ter) rs63750356
NM_000179.3(MSH6):c.3439-1G>T rs587779263
NM_000179.3(MSH6):c.3439-2A>G rs267608098
NM_000179.3(MSH6):c.3449T>A (p.Leu1150Ter) rs1057517763
NM_000179.3(MSH6):c.3476dup (p.Tyr1159Ter) rs587782111
NM_000179.3(MSH6):c.3477C>A (p.Tyr1159Ter) rs398123231
NM_000179.3(MSH6):c.3477C>G (p.Tyr1159Ter) rs398123231
NM_000179.3(MSH6):c.3491dup (p.Cys1165fs) rs876661073
NM_000179.3(MSH6):c.3509_3518del (p.Ile1170fs) rs1553332228
NM_000179.3(MSH6):c.3513_3514del (p.Asp1171fs) rs63750194
NM_000179.3(MSH6):c.3516_3517del (p.Arg1172fs) rs398123232
NM_000179.3(MSH6):c.3523_3524dup (p.Arg1176fs) rs730881828
NM_000179.3(MSH6):c.3528_3532del (p.Leu1177fs) rs863225408
NM_000179.3(MSH6):c.3556+1G>T rs1060502926
NM_000179.3(MSH6):c.3556+1del rs1064793489
NM_000179.3(MSH6):c.3563dup (p.Ser1188fs) rs1553332639
NM_000179.3(MSH6):c.356dup (p.Ile120fs) rs1114167776
NM_000179.3(MSH6):c.3573dup (p.Val1192fs) rs1057517764
NM_000179.3(MSH6):c.3577_3581del (p.Glu1193fs) rs1060502881
NM_000179.3(MSH6):c.3622dup (p.Ser1208fs) rs1553332733
NM_000179.3(MSH6):c.3633_3646dup (p.Gly1216delinsValTrpMetAsnTer) rs1572742114
NM_000179.3(MSH6):c.3647-2A>C rs267608111
NM_000179.3(MSH6):c.3690del (p.Val1231fs) rs730881829
NM_000179.3(MSH6):c.3699_3702del (p.Lys1233fs) rs193922343
NM_000179.3(MSH6):c.36dup (p.Lys13fs) rs2103932294
NM_000179.3(MSH6):c.3716_3717del (p.Ile1239fs) rs1064794384
NM_000179.3(MSH6):c.3732_3735dup (p.Ser1246fs) rs1553333072
NM_000179.3(MSH6):c.3743_3744insT (p.Tyr1249fs) rs786201084
NM_000179.3(MSH6):c.3744_3753dup (p.Val1253fs) rs1553333078
NM_000179.3(MSH6):c.3744_3773del (p.His1248_Ser1257del) rs863225412
NM_000179.3(MSH6):c.3746_3749dup (p.His1250fs) rs587779936
NM_000179.3(MSH6):c.3753_3756dup (p.Val1253fs) rs876661222
NM_000179.3(MSH6):c.3766dup (p.Tyr1256fs) rs1553333127
NM_000179.3(MSH6):c.3768T>G (p.Tyr1256Ter) rs63751058
NM_000179.3(MSH6):c.3775_3776del (p.Asn1259fs) rs1572745157
NM_000179.3(MSH6):c.3799_3800del (p.Met1267fs) rs267608114
NM_000179.3(MSH6):c.3804dup (p.Cys1269fs) rs267608118
NM_000179.3(MSH6):c.3836_3849dup (p.Thr1284fs) rs1553333377
NM_000179.3(MSH6):c.3840_3846del (p.Glu1281fs) rs63751319
NM_000179.3(MSH6):c.3847_3850dup (p.Thr1284fs) rs267608128
NM_000179.3(MSH6):c.3849del (p.Thr1284fs) rs1064793781
NM_000179.3(MSH6):c.3850dup (p.Thr1284fs) rs1553333421
NM_000179.3(MSH6):c.3861T>G (p.Tyr1287Ter) rs1060504739
NM_000179.3(MSH6):c.3878_3881dup (p.Pro1295fs) rs1553333500
NM_000179.3(MSH6):c.3882del (p.Pro1295fs) rs876658817
NM_000179.3(MSH6):c.3891_3928dup (p.Glu1310fs) rs1572746998
NM_000179.3(MSH6):c.3897_3931dup (p.Glu1311fs) rs1064793895
NM_000179.3(MSH6):c.3920_3927dup (p.Glu1310fs) rs587779295
NM_000179.3(MSH6):c.3932_3935dup (p.Ile1313fs) rs267608127
NM_000179.3(MSH6):c.3934_3937dup (p.Ile1313fs) rs760190301
NM_000179.3(MSH6):c.3939_3940dup (p.Gln1314fs) rs730881830
NM_000179.3(MSH6):c.3943_3944dup (p.Gly1316fs) rs2104563446
NM_000179.3(MSH6):c.3951dup (p.Arg1318Ter) rs1553333690
NM_000179.3(MSH6):c.3957del (p.Ala1320fs) rs587779297
NM_000179.3(MSH6):c.3959_3962del (p.Ala1320fs) rs267608120
NM_000179.3(MSH6):c.3980_3983dup (p.Leu1330fs) rs1553333738
NM_000179.3(MSH6):c.3984_3987dup (p.Leu1330fs) rs267608121
NM_000179.3(MSH6):c.3991C>T (p.Arg1331Ter) rs267608094
NM_000179.3(MSH6):c.4001G>A (p.Arg1334Gln) rs267608122
NM_000179.3(MSH6):c.468_471del (p.Glu158fs) rs587779941
NM_000179.3(MSH6):c.469_470dup (p.Glu158fs) rs1553411392
NM_000179.3(MSH6):c.552_555del (p.Asn184fs) rs1023534466
NM_000179.3(MSH6):c.578del (p.Leu193fs) rs587782281
NM_000179.3(MSH6):c.599C>G (p.Ser200Ter) rs63751077
NM_000179.3(MSH6):c.602_603del (p.Glu201fs) rs587779945
NM_000179.3(MSH6):c.642C>G (p.Tyr214Ter) rs1800937
NM_000179.3(MSH6):c.663_667delinsTAC (p.Glu221fs) rs1553412090
NM_000179.3(MSH6):c.694C>T (p.Gln232Ter) rs587779318
NM_000179.3(MSH6):c.702_703insT (p.Thr235fs) rs730881826
NM_000179.3(MSH6):c.706_707del (p.Gln236fs) rs1553412129
NM_000179.3(MSH6):c.718C>T (p.Arg240Ter) rs63750019
NM_000179.3(MSH6):c.742C>T (p.Arg248Ter) rs63749980
NM_000179.3(MSH6):c.817G>T (p.Gly273Ter) rs587779948
NM_000179.3(MSH6):c.853dup (p.Ser285fs) rs1553412289
NM_000179.3(MSH6):c.856G>T (p.Glu286Ter) rs1057520605
NM_000179.3(MSH6):c.864_865del (p.Gly289fs) rs1553412294
NM_000179.3(MSH6):c.901A>T (p.Lys301Ter) rs1572720794
NM_000179.3(MSH6):c.908dup (p.Met303fs) rs1057517551
NM_000179.3(MSH6):c.952_962del (p.Glu318fs) rs1064793185
NM_000179.3(MSH6):c.999del (p.Lys334fs) rs1060502932

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