ClinVar Miner

List of variants in gene MSH6 reported by Mayo Clinic Laboratories, Mayo Clinic

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Gene type:
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Total variants: 157
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HGVS dbSNP gnomAD frequency
NM_000179.3(MSH6):c.3173-101G>C rs2072447 0.78513
NM_000179.3(MSH6):c.3802-40C>G rs3136367 0.73398
NM_000179.3(MSH6):c.3438+14A>T rs2020911 0.32279
NM_000179.3(MSH6):c.540T>C (p.Asp180=) rs1800935 0.23857
NM_000179.3(MSH6):c.116G>A (p.Gly39Glu) rs1042821 0.18742
NM_000179.3(MSH6):c.276A>G (p.Pro92=) rs1800932 0.14697
NM_000179.3(MSH6):c.186C>A (p.Arg62=) rs1042820 0.12806
NM_000179.3(MSH6):c.628-56C>T rs1800936 0.11629
NM_000179.3(MSH6):c.3172+171C>T rs3136337 0.08328
NM_000179.3(MSH6):c.642C>T (p.Tyr214=) rs1800937 0.07457
NM_000179.3(MSH6):c.2253T>C (p.Asn751=) rs2020913 0.02003
NM_000179.3(MSH6):c.1164C>T (p.His388=) rs55708305 0.01384
NM_000179.3(MSH6):c.2272C>T (p.Leu758=) rs56371757 0.01363
NM_000179.3(MSH6):c.3306T>A (p.Thr1102=) rs2020910 0.00869
NM_000179.3(MSH6):c.3557-40T>A rs189436849 0.00587
NM_000179.3(MSH6):c.1186C>G (p.Leu396Val) rs2020908 0.00565
NM_000179.3(MSH6):c.2633T>C (p.Val878Ala) rs2020912 0.00448
NM_000179.3(MSH6):c.3173-97T>C rs138463559 0.00436
NM_000179.3(MSH6):c.457+13A>G rs1800933 0.00434
NM_000179.3(MSH6):c.1345C>T (p.Leu449=) rs3136333 0.00429
NM_000179.3(MSH6):c.3911G>A (p.Arg1304Lys) rs34625968 0.00253
NM_000179.3(MSH6):c.3439-16C>T rs192614006 0.00237
NM_000179.3(MSH6):c.3801+17T>C rs3136365 0.00159
NM_000179.3(MSH6):c.431G>T (p.Ser144Ile) rs3211299 0.00158
NM_000179.3(MSH6):c.1526T>C (p.Val509Ala) rs63751005 0.00067
NM_000179.3(MSH6):c.663A>C (p.Glu221Asp) rs41557217 0.00064
NM_000179.3(MSH6):c.1508C>G (p.Ser503Cys) rs63750897 0.00059
NM_000179.3(MSH6):c.1449G>T (p.Val483=) rs35590297 0.00037
NM_000179.3(MSH6):c.3488A>T (p.Glu1163Val) rs63750252 0.00032
NM_000179.3(MSH6):c.3217C>T (p.Pro1073Ser) rs142254875 0.00028
NM_000179.3(MSH6):c.3961A>G (p.Arg1321Gly) rs41295278 0.00019
NM_000179.3(MSH6):c.3160A>T (p.Ile1054Phe) rs267608075 0.00016
NM_000179.3(MSH6):c.2398G>C (p.Val800Leu) rs61748083 0.00014
NM_000179.3(MSH6):c.59C>T (p.Ala20Val) rs63750664 0.00013
NM_000179.3(MSH6):c.3203G>A (p.Arg1068Gln) rs398123230 0.00012
NM_000179.3(MSH6):c.3245C>T (p.Pro1082Leu) rs191109849 0.00010
NM_000179.3(MSH6):c.660A>C (p.Glu220Asp) rs1800938 0.00009
NM_000179.3(MSH6):c.3478G>A (p.Val1160Ile) rs376799914 0.00006
NM_000179.3(MSH6):c.643G>A (p.Val215Ile) rs145959653 0.00006
NM_000179.3(MSH6):c.1746T>G (p.Phe582Leu) rs201518545 0.00005
NM_000179.3(MSH6):c.2239C>T (p.Leu747=) rs63751305 0.00005
NM_000179.3(MSH6):c.1937A>G (p.Lys646Arg) rs201096652 0.00004
NM_000179.3(MSH6):c.2904C>G (p.Val968=) rs150683226 0.00004
NM_000179.3(MSH6):c.4002-25T>C rs199500983 0.00004
NM_000179.3(MSH6):c.749T>C (p.Val250Ala) rs587781275 0.00004
NM_000179.3(MSH6):c.*10A>C rs757778351 0.00003
NM_000179.3(MSH6):c.-8C>T rs565211544 0.00003
NM_000179.3(MSH6):c.10C>T (p.Gln4Ter) rs786201042 0.00002
NM_000179.3(MSH6):c.166_171dup (p.54GP[3]) rs786201776 0.00002
NM_000179.3(MSH6):c.3202C>T (p.Arg1068Ter) rs63749843 0.00002
NM_000179.3(MSH6):c.3832C>A (p.Pro1278Thr) rs587782109 0.00002
NM_000179.3(MSH6):c.4028C>G (p.Ser1343Ter) rs863225420 0.00002
NM_000179.3(MSH6):c.1599G>C (p.Glu533Asp) rs373726731 0.00001
NM_000179.3(MSH6):c.2057G>A (p.Gly686Asp) rs587779227 0.00001
NM_000179.3(MSH6):c.261-1G>C rs863225402 0.00001
NM_000179.3(MSH6):c.2731C>T (p.Arg911Ter) rs63751017 0.00001
NM_000179.3(MSH6):c.2830A>G (p.Ile944Val) rs878853723 0.00001
NM_000179.3(MSH6):c.3103C>T (p.Arg1035Ter) rs63749999 0.00001
NM_000179.3(MSH6):c.3227G>A (p.Arg1076His) rs779617676 0.00001
NM_000179.3(MSH6):c.3396T>A (p.Val1132=) rs1026907245 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.503C>G (p.Ala168Gly) rs774162322 0.00001
NM_000179.3(MSH6):c.892C>T (p.Arg298Ter) rs146816935 0.00001
MSH6:c.3647-51_3647-35del17 rs267607687
NM_000179.2(MSH6):c.3938_3939ins19 (p.?)
NM_000179.3(MSH6):c.1037C>T (p.Ser346Phe) rs567785169
NM_000179.3(MSH6):c.1109T>C (p.Leu370Ser) rs587779204
NM_000179.3(MSH6):c.1135A>T (p.Arg379Ter) rs1432436629
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.1190_1191del (p.Tyr397fs) rs63750439
NM_000179.3(MSH6):c.1295T>C (p.Phe432Ser) rs750528093
NM_000179.3(MSH6):c.1312dup (p.Met438fs) rs863225399
NM_000179.3(MSH6):c.1352del (p.Phe451fs) rs869312769
NM_000179.3(MSH6):c.1483C>T (p.Arg495Ter) rs587779212
NM_000179.3(MSH6):c.1490_1491del (p.Arg497fs) rs863225400
NM_000179.3(MSH6):c.1634_1635del (p.Lys545fs) rs267608064
NM_000179.3(MSH6):c.1883G>A (p.Trp628Ter) rs863225401
NM_000179.3(MSH6):c.2061T>A (p.Cys687Ter) rs267608068
NM_000179.3(MSH6):c.2095G>T (p.Glu699Ter) rs1553413470
NM_000179.3(MSH6):c.2150_2153del (p.Val717fs) rs267608058
NM_000179.3(MSH6):c.2187C>A (p.Ala729=) rs375610656
NM_000179.3(MSH6):c.2230dup (p.Glu744fs) rs786201050
NM_000179.3(MSH6):c.2314C>T (p.Arg772Trp) rs63750138
NM_000179.3(MSH6):c.2555AGA[2] (p.Lys854del) rs587782858
NM_000179.3(MSH6):c.2745C>G (p.Ala915=) rs876658904
NM_000179.3(MSH6):c.2805_2806del (p.Asp936fs) rs863225403
NM_000179.3(MSH6):c.2872C>G (p.Gln958Glu) rs1553414236
NM_000179.3(MSH6):c.2877C>T (p.Arg959=) rs781734958
NM_000179.3(MSH6):c.2932C>T (p.Gln978Ter) rs587781372
NM_000179.3(MSH6):c.3013C>T (p.Arg1005Ter) rs63750563
NM_000179.3(MSH6):c.3037_3041del (p.Lys1013fs) rs587782712
NM_000179.3(MSH6):c.3097A>G (p.Met1033Val) rs1553414508
NM_000179.3(MSH6):c.3108_3109del (p.Phe1037fs) rs1553414519
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.3172G>C (p.Asp1058His) rs863225404
NM_000179.3(MSH6):c.3173-1G>C rs397515875
NM_000179.3(MSH6):c.3173-94A>G rs863225405
NM_000179.3(MSH6):c.3238_3239del (p.Leu1080fs) rs863225406
NM_000179.3(MSH6):c.3246G>A (p.Pro1082=) rs3136351
NM_000179.3(MSH6):c.3246G>T (p.Pro1082=) rs3136351
NM_000179.3(MSH6):c.3260C>A (p.Pro1087His) rs63750753
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.3332_3335dup (p.Asp1112delinsGluTer) rs587782562
NM_000179.3(MSH6):c.3384T>C (p.Tyr1128=) rs544518097
NM_000179.3(MSH6):c.3439-2A>G rs267608098
NM_000179.3(MSH6):c.3469G>A (p.Gly1157Ser) rs587779264
NM_000179.3(MSH6):c.3476dup (p.Tyr1159Ter) rs587782111
NM_000179.3(MSH6):c.3477C>A (p.Tyr1159Ter) rs398123231
NM_000179.3(MSH6):c.3516_3517del (p.Arg1172fs) rs398123232
NM_000179.3(MSH6):c.3519_3522dup (p.Thr1175fs) rs267608101
NM_000179.3(MSH6):c.3528_3532del (p.Leu1177fs) rs863225408
NM_000179.3(MSH6):c.3557-4del rs267608102
NM_000179.3(MSH6):c.3557-4dup rs267608102
NM_000179.3(MSH6):c.3573dup (p.Val1192fs) rs1057517764
NM_000179.3(MSH6):c.3626_3627del (p.Leu1209fs) rs863225409
NM_000179.3(MSH6):c.3646+35_3646+38del rs1805181
NM_000179.3(MSH6):c.3646+91T>C rs3136359
NM_000179.3(MSH6):c.3647-15A>C rs371171254
NM_000179.3(MSH6):c.3647-15A>G rs371171254
NM_000179.3(MSH6):c.3647-70TTTTTGTTTTAATTCCT[3] rs267607687
NM_000179.3(MSH6):c.3699_3702del (p.Lys1233fs) rs193922343
NM_000179.3(MSH6):c.3699_3702dup (p.Leu1235fs) rs193922343
NM_000179.3(MSH6):c.369A>T (p.Lys123Asn) rs587782106
NM_000179.3(MSH6):c.3716_3717del (p.Ile1239fs) rs1064794384
NM_000179.3(MSH6):c.3716dup (p.Cys1241fs) rs1114167706
NM_000179.3(MSH6):c.3730T>G (p.Leu1244Val) rs1060502938
NM_000179.3(MSH6):c.3744_3773del (p.His1248_Ser1257del) rs863225412
NM_000179.3(MSH6):c.3758T>C (p.Val1253Ala) rs202066386
NM_000179.3(MSH6):c.3759_3760insT (p.Glu1254Ter) rs863225413
NM_000179.3(MSH6):c.3768T>G (p.Tyr1256Ter) rs63751058
NM_000179.3(MSH6):c.3799_3800del (p.Met1267fs) rs267608114
NM_000179.3(MSH6):c.3802-43dup rs34154602
NM_000179.3(MSH6):c.3802-7_3802-4del rs876661171
NM_000179.3(MSH6):c.3851_3852insATTA (p.Phe1285fs) rs863225414
NM_000179.3(MSH6):c.3854dup (p.Leu1286fs) rs863225415
NM_000179.3(MSH6):c.3863_3866dup (p.Phe1289fs) rs863225416
NM_000179.3(MSH6):c.3939_3940insTCAAAAGGGACATAGAAAA (p.Gln1314delinsSerLysGlyThrTer) rs863225417
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.3999dup (p.Arg1334fs) rs863225418
NM_000179.3(MSH6):c.4001+2TAAC[2] rs267608132
NM_000179.3(MSH6):c.4001+49_4001+50insCTAACTGACCTTAAGTTTCAA rs863225419
NM_000179.3(MSH6):c.4001G>A (p.Arg1334Gln) rs267608122
NM_000179.3(MSH6):c.4002-10del rs59056100
NM_000179.3(MSH6):c.4075G>A (p.Glu1359Lys) rs267608081
NM_000179.3(MSH6):c.661_672del (p.Glu221_Glu224del) rs1553412079
NM_000179.3(MSH6):c.742C>T (p.Arg248Ter) rs63749980
NM_000179.3(MSH6):c.818G>T (p.Gly273Val) rs769610487
NM_000179.3(MSH6):c.900dup (p.Lys301fs) rs863225421

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