ClinVar Miner

List of variants in gene MSH6 reported as pathogenic by Color Diagnostics, LLC DBA Color Health

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Gene type:
ClinVar version:
Total variants: 163
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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.1198G>T (p.Glu400Ter) rs1396658541 0.00001
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.1612dup (p.Tyr538fs) rs1230092559 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.3514dup (p.Arg1172fs) rs63751327 0.00001
NM_000179.3(MSH6):c.3939_3957dup (p.Ala1320delinsSerLysGlyThrTer) rs63750767 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_000179.3(MSH6):c.1108_1109del (p.Leu370fs) rs786204252
NM_000179.3(MSH6):c.1129_1130del (p.Lys377fs) rs1558660612
NM_000179.3(MSH6):c.1135_1139del (p.Arg378_Arg379insTer) rs267608077
NM_000179.3(MSH6):c.114del (p.Ala40fs) rs1558644995
NM_000179.3(MSH6):c.1168_1170delinsAA (p.Asp390fs) rs863225398
NM_000179.3(MSH6):c.1176_1178delinsGGAA (p.Asp392fs) rs1114167718
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.1352del (p.Phe451fs) rs869312769
NM_000179.3(MSH6):c.1417del (p.Leu473fs) rs1553412824
NM_000179.3(MSH6):c.1421_1422dup (p.Gln475fs) rs63750854
NM_000179.3(MSH6):c.1423C>T (p.Gln475Ter) rs1553412835
NM_000179.3(MSH6):c.1450G>T (p.Glu484Ter) rs587782706
NM_000179.3(MSH6):c.1458dup (p.Glu487Ter)
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.1634_1635del (p.Lys545fs) rs267608064
NM_000179.3(MSH6):c.1637_1638del (p.Glu546fs) rs267608076
NM_000179.3(MSH6):c.1691C>A (p.Ser564Ter) rs864622153
NM_000179.3(MSH6):c.1705_1706del (p.Phe569fs) rs587783056
NM_000179.3(MSH6):c.1707del (p.Phe569fs) rs1669364351
NM_000179.3(MSH6):c.171del (p.Arg58fs) rs1553408306
NM_000179.3(MSH6):c.1767del (p.Pro591fs) rs1114167765
NM_000179.3(MSH6):c.1805C>G (p.Ser602Ter) rs730881816
NM_000179.3(MSH6):c.1806_1809del (p.Glu604fs) rs63750735
NM_000179.3(MSH6):c.1815_1816del (p.Lys606fs) rs1060502886
NM_000179.3(MSH6):c.1828_1829del (p.Lys610fs)
NM_000179.3(MSH6):c.1842del (p.Cys615fs) rs730881825
NM_000179.3(MSH6):c.1871del (p.Gly624fs) rs777159874
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.1933G>T (p.Glu645Ter) rs1064795591
NM_000179.3(MSH6):c.1957_1960dup (p.Met654fs) rs63751167
NM_000179.3(MSH6):c.1969del (p.Gln657fs) rs876661205
NM_000179.3(MSH6):c.1997_1998del (p.Glu665_Ser666insTer) rs1572725235
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.2092del (p.Gln698fs) rs1669419578
NM_000179.3(MSH6):c.2149_2155del (p.Val717fs) rs1558664474
NM_000179.3(MSH6):c.2150_2153del (p.Val717fs) rs267608058
NM_000179.3(MSH6):c.2162del (p.Arg721fs)
NM_000179.3(MSH6):c.2194C>T (p.Arg732Ter) rs63751127
NM_000179.3(MSH6):c.2219T>G (p.Leu740Ter) rs745483465
NM_000179.3(MSH6):c.2230dup (p.Glu744fs) rs786201050
NM_000179.3(MSH6):c.2290dup (p.Thr764fs) rs1553413663
NM_000179.3(MSH6):c.2295C>A (p.Cys765Ter) rs63750985
NM_000179.3(MSH6):c.2300C>T (p.Thr767Ile) rs587781462
NM_000179.3(MSH6):c.2308_2312delinsT (p.Gly770fs) rs864622585
NM_000179.3(MSH6):c.2314C>T (p.Arg772Trp) rs63750138
NM_000179.3(MSH6):c.2535dup (p.Glu846Ter) rs587779241
NM_000179.3(MSH6):c.2550C>G (p.Tyr850Ter) rs374230313
NM_000179.3(MSH6):c.2569_2572del (p.Asp857fs) rs587779243
NM_000179.3(MSH6):c.2574dup (p.Leu859fs) rs1669483230
NM_000179.3(MSH6):c.2677_2678del (p.Leu893fs) rs1572728112
NM_000179.3(MSH6):c.2690dup (p.Asn897fs) rs1553414010
NM_000179.3(MSH6):c.2735G>A (p.Trp912Ter) rs1060502876
NM_000179.3(MSH6):c.2764C>T (p.Arg922Ter) rs587779246
NM_000179.3(MSH6):c.2832_2833del (p.Ile944fs) rs730881827
NM_000179.3(MSH6):c.2906_2907del (p.Tyr969fs) rs786203924
NM_000179.3(MSH6):c.2913dup (p.Ile972fs) rs1054003194
NM_000179.3(MSH6):c.2931C>A (p.Tyr977Ter) rs63750111
NM_000179.3(MSH6):c.2931C>G (p.Tyr977Ter) rs63750111
NM_000179.3(MSH6):c.2945del (p.Pro982fs) rs587779250
NM_000179.3(MSH6):c.3013C>T (p.Arg1005Ter) rs63750563
NM_000179.3(MSH6):c.3018del (p.Trp1007fs) rs1669539415
NM_000179.3(MSH6):c.3028del (p.Thr1010fs) rs1114167773
NM_000179.3(MSH6):c.3037_3041del (p.Lys1013fs) rs587782712
NM_000179.3(MSH6):c.3108_3109del (p.Phe1037fs) rs1553414519
NM_000179.3(MSH6):c.3119_3120del (p.Asn1039_Phe1040insTer) rs267608042
NM_000179.3(MSH6):c.3132C>G (p.Tyr1044Ter) rs1669552731
NM_000179.3(MSH6):c.3155_3156del (p.Glu1052fs) rs63750833
NM_000179.3(MSH6):c.3159dup (p.Ile1054fs) rs1553414578
NM_000179.3(MSH6):c.3173-1G>C rs397515875
NM_000179.3(MSH6):c.3188T>G (p.Leu1063Arg) rs1060502901
NM_000179.3(MSH6):c.3190_3224dup (p.Cys1075fs)
NM_000179.3(MSH6):c.3238_3239del (p.Leu1080fs) rs863225406
NM_000179.3(MSH6):c.3261del (p.Phe1088fs) rs267608078
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs) rs267608078
NM_000179.3(MSH6):c.3311_3312del (p.Phe1104fs) rs267608092
NM_000179.3(MSH6):c.3312del (p.Phe1104fs) rs267608092
NM_000179.3(MSH6):c.3312dup (p.Gly1105fs) rs267608092
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.3463C>T (p.Gln1155Ter) rs1553332166
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.3477del (p.Cys1158_Tyr1159insTer) rs1114167767
NM_000179.3(MSH6):c.3491dup (p.Cys1165fs) rs876661073
NM_000179.3(MSH6):c.3513_3514del (p.Asp1171fs) rs63750194
NM_000179.3(MSH6):c.3513_3523del (p.Asp1171_Arg1172insTer) rs1324100572
NM_000179.3(MSH6):c.3516_3517del (p.Arg1172fs) rs398123232
NM_000179.3(MSH6):c.3567_3568del (p.Phe1191fs) rs1669958074
NM_000179.3(MSH6):c.3573dup (p.Val1192fs) rs1057517764
NM_000179.3(MSH6):c.3574del (p.Val1192fs) rs1553332671
NM_000179.3(MSH6):c.3633dup (p.Val1212fs) rs587776706
NM_000179.3(MSH6):c.3649_3650insCTGCAACATTT (p.Arg1217fs)
NM_000179.3(MSH6):c.3651_3652dup (p.Gly1218fs) rs1670039388
NM_000179.3(MSH6):c.3699_3702del (p.Lys1233fs) rs193922343
NM_000179.3(MSH6):c.3699del (p.Glu1234fs) rs1558392033
NM_000179.3(MSH6):c.3700G>T (p.Glu1234Ter) rs35717727
NM_000179.3(MSH6):c.3716_3717del (p.Ile1239fs) rs1064794384
NM_000179.3(MSH6):c.3722dup (p.Cys1241fs)
NM_000179.3(MSH6):c.3724_3726del (p.Arg1242del) rs63749942
NM_000179.3(MSH6):c.3725G>A (p.Arg1242His) rs63750119
NM_000179.3(MSH6):c.3725_3737del (p.Arg1242fs) rs587779287
NM_000179.3(MSH6):c.3743_3744insT (p.Tyr1249fs) rs786201084
NM_000179.3(MSH6):c.3753_3756dup (p.Val1253fs) rs876661222
NM_000179.3(MSH6):c.3766del (p.Tyr1256fs) rs1553333127
NM_000179.3(MSH6):c.3768T>G (p.Tyr1256Ter) rs63751058
NM_000179.3(MSH6):c.3804dup (p.Cys1269fs) rs267608118
NM_000179.3(MSH6):c.3806_3818del (p.Cys1269fs) rs1670089838
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.3850dup (p.Thr1284fs) rs1553333421
NM_000179.3(MSH6):c.3860_3882dup (p.Pro1295fs)
NM_000179.3(MSH6):c.3861_3862del (p.Tyr1287_Lys1288delinsTer)
NM_000179.3(MSH6):c.3882del (p.Pro1295fs) rs876658817
NM_000179.3(MSH6):c.3897_3931dup (p.Glu1311fs) rs1064793895
NM_000179.3(MSH6):c.3926_3927insGAGA (p.Glu1310fs) rs1553333605
NM_000179.3(MSH6):c.3933_3935delinsCA (p.Glu1311fs) rs1670129588
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.3939dup (p.Gln1314fs) rs1553333633
NM_000179.3(MSH6):c.394_395del (p.Gln132fs) rs1668698146
NM_000179.3(MSH6):c.3951_3952dup (p.Arg1318fs) rs1114167790
NM_000179.3(MSH6):c.3956_3957dup (p.Ala1320fs) rs587779297
NM_000179.3(MSH6):c.3956_3974del (p.Lys1319fs) rs1558394336
NM_000179.3(MSH6):c.3956_3974dup (p.Lys1325_Met1326insSerLysArgIleTer)
NM_000179.3(MSH6):c.3959_3962del (p.Ala1320fs) rs267608120
NM_000179.3(MSH6):c.3960_3963dup (p.Glu1322fs) rs1553333700
NM_000179.3(MSH6):c.3980_3983dup (p.Leu1330fs) rs1553333738
NM_000179.3(MSH6):c.3982C>T (p.Gln1328Ter) rs2104567084
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.461C>G (p.Ser154Ter) rs1553411391
NM_000179.3(MSH6):c.468_471del (p.Glu158fs) rs587779941
NM_000179.3(MSH6):c.552_555del (p.Asn184fs) rs1023534466
NM_000179.3(MSH6):c.58dup (p.Ala20fs) rs1553408136
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.741del (p.Lys247fs) rs267608041
NM_000179.3(MSH6):c.742C>T (p.Arg248Ter) rs63749980
NM_000179.3(MSH6):c.776dup (p.Gly260fs) rs1558659265
NM_000179.3(MSH6):c.80_83del (p.Ala27fs) rs1668116875
NM_000179.3(MSH6):c.868del (p.Gly289_Leu290insTer) rs2104302672

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