ClinVar Miner

List of variants in gene MSH6 reported as pathogenic by International Society for Gastrointestinal Hereditary Tumours (InSiGHT)

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Gene type:
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Total variants: 160
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HGVS dbSNP gnomAD frequency
NM_000179.3(MSH6):c.3202C>T (p.Arg1068Ter) rs63749843 0.00002
NM_000179.3(MSH6):c.1346T>C (p.Leu449Pro) rs63750741 0.00001
NM_000179.3(MSH6):c.1444C>T (p.Arg482Ter) rs63750909 0.00001
NM_000179.3(MSH6):c.2731C>T (p.Arg911Ter) rs63751017 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.892C>T (p.Arg298Ter) rs146816935 0.00001
NM_000179.2(MSH6):c.3438+797_3438+798insTATins1839_3438+797
NM_000179.2(MSH6):c.3953_3954ins32 (p.?)
NM_000179.2(MSH6):c.458-?_627+?del
NM_000179.3(MSH6):c.1085del (p.Pro362fs) rs267608056
NM_000179.3(MSH6):c.1100A>G (p.His367Arg) rs1553412495
NM_000179.3(MSH6):c.1101del (p.His367fs) rs587779203
NM_000179.3(MSH6):c.1135_1139del (p.Arg378_Arg379insTer) rs267608077
NM_000179.3(MSH6):c.1139_1143del (p.Asp380fs) rs587779206
NM_000179.3(MSH6):c.1190_1191del (p.Tyr397fs) rs63750439
NM_000179.3(MSH6):c.1193T>A (p.Val398Glu) rs587779208
NM_000179.3(MSH6):c.1276del (p.Cys426fs) rs587779209
NM_000179.3(MSH6):c.1299T>A (p.Tyr433Ter) rs267608055
NM_000179.3(MSH6):c.1421_1422dup (p.Gln475fs) rs63750854
NM_000179.3(MSH6):c.1439T>A (p.Val480Glu) rs1244531716
NM_000179.3(MSH6):c.1477G>T (p.Glu493Ter) rs267608046
NM_000179.3(MSH6):c.1483C>T (p.Arg495Ter) rs587779212
NM_000179.3(MSH6):c.1572C>G (p.Tyr524Ter) rs587779215
NM_000179.3(MSH6):c.1580del (p.Leu527fs) rs63751090
NM_000179.3(MSH6):c.1590del (p.Ser532fs) rs587779216
NM_000179.3(MSH6):c.1596dup (p.Glu533Ter) rs587779217
NM_000179.3(MSH6):c.1614_1615delinsAG (p.Tyr538_Leu539delinsTer) rs267608049
NM_000179.3(MSH6):c.1614_1615delinsG (p.Tyr538_Leu539delinsTer) rs587779218
NM_000179.3(MSH6):c.1615CTT[1] (p.Leu540del) rs1064793600
NM_000179.3(MSH6):c.1628_1629del (p.Lys543fs) rs587779219
NM_000179.3(MSH6):c.1632_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.1784del (p.Leu595fs) rs267608050
NM_000179.3(MSH6):c.1806_1809del (p.Glu604fs) rs63750735
NM_000179.3(MSH6):c.1819dup (p.Thr607fs) rs587779221
NM_000179.3(MSH6):c.1835C>A (p.Ser612Ter) rs63750564
NM_000179.3(MSH6):c.1869del (p.Gly624fs) rs71539659
NM_000179.3(MSH6):c.1901_1902del (p.Thr633_Leu634insTer) rs267608082
NM_000179.3(MSH6):c.1957_1960dup (p.Met654fs) rs63751167
NM_000179.3(MSH6):c.2045_2046del (p.Ser682fs) rs267608057
NM_000179.3(MSH6):c.2050_2051dup (p.Leu684_Gly685insTer) rs587779226
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.2105C>G (p.Ser702Ter) rs63751419
NM_000179.3(MSH6):c.2127T>A (p.Tyr709Ter) rs587779232
NM_000179.3(MSH6):c.2150_2153del (p.Val717fs) rs267608058
NM_000179.3(MSH6):c.2191C>T (p.Gln731Ter) rs63751442
NM_000179.3(MSH6):c.2194C>T (p.Arg732Ter) rs63751127
NM_000179.3(MSH6):c.2300C>T (p.Thr767Ile) rs587781462
NM_000179.3(MSH6):c.2314C>T (p.Arg772Trp) rs63750138
NM_000179.3(MSH6):c.2330G>A (p.Trp777Ter) rs587779234
NM_000179.3(MSH6):c.2348_2349del (p.Leu782_Cys783insTer) rs267608065
NM_000179.3(MSH6):c.2379_2380del (p.Ala794fs) rs587779237
NM_000179.3(MSH6):c.2503C>T (p.Gln835Ter) rs63751321
NM_000179.3(MSH6):c.2535dup (p.Glu846Ter) rs587779241
NM_000179.3(MSH6):c.2569_2572del (p.Asp857fs) rs587779243
NM_000179.3(MSH6):c.2611_2614dup (p.Ile872fs) rs63750357
NM_000179.3(MSH6):c.2672_2674delinsC (p.Ile891fs) rs587779244
NM_000179.3(MSH6):c.2714T>A (p.Leu905Ter) rs587779245
NM_000179.3(MSH6):c.2719_2720del (p.Val907fs) rs63750904
NM_000179.3(MSH6):c.2764C>T (p.Arg922Ter) rs587779246
NM_000179.3(MSH6):c.2765del (p.Arg922fs) rs587779247
NM_000179.3(MSH6):c.2768dup (p.Thr924fs) rs267608063
NM_000179.3(MSH6):c.2815C>T (p.Gln939Ter) rs63750140
NM_000179.3(MSH6):c.2851_2858del (p.Leu951fs) rs63750940
NM_000179.3(MSH6):c.2931C>G (p.Tyr977Ter) rs63750111
NM_000179.3(MSH6):c.2945del (p.Pro982fs) rs587779250
NM_000179.3(MSH6):c.2976del (p.Glu993fs) rs587779251
NM_000179.3(MSH6):c.2983G>T (p.Glu995Ter) rs63750258
NM_000179.3(MSH6):c.2984del (p.Glu995fs) rs63749938
NM_000179.3(MSH6):c.3013C>T (p.Arg1005Ter) rs63750563
NM_000179.3(MSH6):c.3020G>A (p.Trp1007Ter) rs587779252
NM_000179.3(MSH6):c.3053_3054del (p.Leu1018fs) rs63751407
NM_000179.3(MSH6):c.3067G>T (p.Glu1023Ter) rs267608059
NM_000179.3(MSH6):c.3119_3120del (p.Asn1039_Phe1040insTer) rs267608042
NM_000179.3(MSH6):c.3155_3156del (p.Glu1052fs) rs63750833
NM_000179.3(MSH6):c.3173-1_3173del rs587779256
NM_000179.3(MSH6):c.3173-433_3556+228del
NM_000179.3(MSH6):c.3182del (p.Leu1061fs) rs63750196
NM_000179.3(MSH6):c.3188T>G (p.Leu1063Arg) rs1060502901
NM_000179.3(MSH6):c.3195_3198del (p.Asn1065fs) rs267608085
NM_000179.3(MSH6):c.3198_3199dup (p.Ser1067fs) rs63749821
NM_000179.3(MSH6):c.3221del (p.Met1074fs) rs267608090
NM_000179.3(MSH6):c.3259_3260insT (p.Pro1087fs) rs587779258
NM_000179.3(MSH6):c.3261del (p.Phe1088fs) rs267608078
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs) rs267608078
NM_000179.3(MSH6):c.3263dup (p.Glu1090fs) rs267608091
NM_000179.3(MSH6):c.3268_3274del (p.Glu1090fs) rs587779259
NM_000179.3(MSH6):c.3273dup (p.Lys1092Ter) rs267608095
NM_000179.3(MSH6):c.3311_3312del (p.Phe1104fs) rs267608092
NM_000179.3(MSH6):c.3312del (p.Phe1104fs) rs267608092
NM_000179.3(MSH6):c.3320del (p.Asp1107fs) rs63750377
NM_000179.3(MSH6):c.3324dup (p.Ile1109fs) rs267608088
NM_000179.3(MSH6):c.3341_3342insC (p.Ile1115fs) rs587779260
NM_000179.3(MSH6):c.3355G>T (p.Glu1119Ter) rs267608084
NM_000179.3(MSH6):c.3367G>T (p.Glu1123Ter) rs267608086
NM_000179.3(MSH6):c.3379_3438+5del rs1553331676
NM_000179.3(MSH6):c.3436C>T (p.Gln1146Ter) rs63750356
NM_000179.3(MSH6):c.3511_3512del (p.Ile1170_Asp1171insTer) rs63751410
NM_000179.3(MSH6):c.3513_3514del (p.Asp1171fs) rs63750194
NM_000179.3(MSH6):c.3516_3519del (p.Arg1172fs) rs267608099
NM_000179.3(MSH6):c.3519_3520insA (p.Phe1174fs) rs63750296
NM_000179.3(MSH6):c.3519_3522dup (p.Thr1175fs) rs267608101
NM_000179.3(MSH6):c.3609_3612del (p.His1203fs) rs587779274
NM_000179.3(MSH6):c.3632T>C (p.Leu1211Pro) rs864622041
NM_000179.3(MSH6):c.3635dup (p.Asp1213fs) rs63750731
NM_000179.3(MSH6):c.3647-1G>A rs587779279
NM_000179.3(MSH6):c.3647-2A>C rs267608111
NM_000179.3(MSH6):c.3678_3706dup (p.Ala1236delinsGluTer) rs1553332996
NM_000179.3(MSH6):c.3699_3702del (p.Lys1233fs) rs193922343
NM_000179.3(MSH6):c.3725_3737del (p.Arg1242fs) rs587779287
NM_000179.3(MSH6):c.3729_3732dup (p.Phe1245fs) rs587779288
NM_000179.3(MSH6):c.3757_3758insA (p.Val1253fs) rs587779289
NM_000179.3(MSH6):c.3768T>G (p.Tyr1256Ter) rs63751058
NM_000179.3(MSH6):c.3772C>T (p.Gln1258Ter) rs63750554
NM_000179.3(MSH6):c.3798_3801+26del rs587779291
NM_000179.3(MSH6):c.3799_3800del (p.Met1267fs) rs267608114
NM_000179.3(MSH6):c.3804dup (p.Cys1269fs) rs267608118
NM_000179.3(MSH6):c.3821_3824dup (p.Cys1275Ter) rs63750262
NM_000179.3(MSH6):c.3838C>T (p.Gln1280Ter) rs63750139
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.3887_3893del (p.Lys1296fs) rs267608130
NM_000179.3(MSH6):c.3918dup (p.Asn1307Ter) rs1553333594
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.3938_3941dup (p.Gln1314fs) rs267608126
NM_000179.3(MSH6):c.3959_3962del (p.Ala1320fs) rs267608120
NM_000179.3(MSH6):c.3969_3979del (p.Phe1323fs) rs587779299
NM_000179.3(MSH6):c.3984_3985insATCA (p.Ser1329fs) rs267608124
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.3996_4000dup (p.Arg1334fs) rs587779301
NM_000179.3(MSH6):c.4001+2T>C rs267608131
NM_000179.3(MSH6):c.4001G>A (p.Arg1334Gln) rs267608122
NM_000179.3(MSH6):c.4002-31_4002-8inv
NM_000179.3(MSH6):c.426G>A (p.Trp142Ter) rs63750342
NM_000179.3(MSH6):c.457+2T>A rs267608036
NM_000179.3(MSH6):c.522_523del (p.Arg174fs) rs267608037
NM_000179.3(MSH6):c.599C>A (p.Ser200Ter) rs63751077
NM_000179.3(MSH6):c.642C>A (p.Tyr214Ter) rs1800937
NM_000179.3(MSH6):c.642C>G (p.Tyr214Ter) rs1800937
NM_000179.3(MSH6):c.652A>T (p.Lys218Ter) rs587779315
NM_000179.3(MSH6):c.694C>T (p.Gln232Ter) rs587779318
NM_000179.3(MSH6):c.706C>T (p.Gln236Ter) rs63750996
NM_000179.3(MSH6):c.710del (p.Gly237fs) rs587779319
NM_000179.3(MSH6):c.718C>T (p.Arg240Ter) rs63750019
NM_000179.3(MSH6):c.730C>T (p.Gln244Ter) rs267608066
NM_000179.3(MSH6):c.738_739insT (p.Lys247Ter) rs587779320
NM_000179.3(MSH6):c.742C>T (p.Arg248Ter) rs63749980
NM_000179.3(MSH6):c.755C>G (p.Ser252Ter) rs267608048
NM_000179.3(MSH6):c.762_763del (p.Glu255_Ser256insTer) rs267608072
NM_000179.3(MSH6):c.814G>T (p.Glu272Ter) rs63750552
NM_000179.3(MSH6):c.845dup (p.Asp284fs) rs1553412283

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