ClinVar Miner

List of variants in gene MSH6 reported as pathogenic for 46,XY disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 416
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HGVS dbSNP
NC_000002.12:g.(?_47783224)_(47783503_?)del
NC_000002.12:g.(?_47783224)_(47791133_?)del
NC_000002.12:g.(?_47783224)_(47805037_?)del
NC_000002.12:g.(?_47783224)_(47806870_?)del
NC_000002.12:g.(?_47783228)_(47783499_?)del
NC_000002.12:g.(?_47783228)_(47791129_?)del
NC_000002.12:g.(?_47783228)_(47805033_?)del
NC_000002.12:g.(?_47783228)_(47806866_?)del
NC_000002.12:g.(?_47783234)_(47783503_?)del
NC_000002.12:g.(?_47783234)_(47791133_?)del
NC_000002.12:g.(?_47790917)_(47791133_?)del
NC_000002.12:g.(?_47790917)_(47801165_?)del
NC_000002.12:g.(?_47790917)_(47805037_?)del
NC_000002.12:g.(?_47795884)_(47796073_?)del
NC_000002.12:g.(?_47795888)_(47803691_?)del
NC_000002.12:g.(?_47798601)_(47801165_?)del
NC_000002.12:g.(?_47801962)_(47806306_?)del
NC_000002.12:g.(?_47803398)_(47805474_?)del
NC_000002.12:g.(?_47803410)_(47803695_?)del
NC_000002.12:g.(?_47803410)_(47805037_?)del
NC_000002.12:g.(?_47803414)_(47803691_?)del
NC_000002.12:g.(?_47804900)_(47805717_?)del
NC_000002.12:g.(?_47804904)_(47805713_?)del
NC_000002.12:g.47803429_47807697del
NM_000179.2 (MSH6):c.3984_3987dupGTCA (p.Leu1330Valfs) rs267608121
NM_000179.2(MSH6):c.1012A>T (p.Arg338Ter) rs1114167804
NM_000179.2(MSH6):c.1039_1040insC (p.Glu347fs) rs1553412441
NM_000179.2(MSH6):c.103_113del (p.Ala35fs) rs1572698011
NM_000179.2(MSH6):c.1045C>T (p.Gln349Ter) rs863224473
NM_000179.2(MSH6):c.1102_1162dup (p.His388delinsArgAsnPheArgMetAlaTer) rs1553412502
NM_000179.2(MSH6):c.1108_1109delTT (p.Leu370Argfs) rs786204252
NM_000179.2(MSH6):c.1134_1135del (p.Arg379_Asp380insTer) rs876660549
NM_000179.2(MSH6):c.1223del (p.Pro408fs) rs1553412649
NM_000179.2(MSH6):c.1238G>A (p.Trp413Ter) rs786201049
NM_000179.2(MSH6):c.1241G>A (p.Trp414Ter) rs587779914
NM_000179.2(MSH6):c.1243C>T (p.Gln415Ter) rs1114167756
NM_000179.2(MSH6):c.1281C>G (p.Tyr427Ter) rs1553412720
NM_000179.2(MSH6):c.1299T>G (p.Tyr433Ter) rs267608055
NM_000179.2(MSH6):c.1299del (p.Phe432_Tyr433insTer) rs1553412735
NM_000179.2(MSH6):c.1308C>G (p.Tyr436Ter) rs761037236
NM_000179.2(MSH6):c.1323_1324insCAAA (p.Ile442fs) rs1558661368
NM_000179.2(MSH6):c.1326del (p.Ile442fs) rs1558661380
NM_000179.2(MSH6):c.1328dup (p.Val444fs) rs1553412755
NM_000179.2(MSH6):c.1350_1351del (p.Phe451fs) rs878853702
NM_000179.2(MSH6):c.1387G>T (p.Glu463Ter) rs864622435
NM_000179.2(MSH6):c.1423C>T (p.Gln475Ter) rs1553412835
NM_000179.2(MSH6):c.1444C>T (p.Arg482Ter) rs63750909
NM_000179.2(MSH6):c.1490_1491del (p.Arg497fs) rs863225400
NM_000179.2(MSH6):c.1515T>A (p.Tyr505Ter) rs878853704
NM_000179.2(MSH6):c.1515T>G (p.Tyr505Ter) rs878853704
NM_000179.2(MSH6):c.1519dup (p.Arg507fs) rs876658881
NM_000179.2(MSH6):c.1569_1570del (p.Tyr524fs) rs1553412960
NM_000179.2(MSH6):c.1571dup (p.Tyr524Ter) rs1553412966
NM_000179.2(MSH6):c.1572C>A (p.Tyr524Ter) rs587779215
NM_000179.2(MSH6):c.1572C>G (p.Tyr524Ter) rs587779215
NM_000179.2(MSH6):c.1572_1573del (p.Tyr524_Ser525delinsTer) rs1114167702
NM_000179.2(MSH6):c.1645del (p.Ser549fs) rs876661033
NM_000179.2(MSH6):c.164_177del (p.Pro55fs) rs1558645195
NM_000179.2(MSH6):c.1691C>A (p.Ser564Ter) rs864622153
NM_000179.2(MSH6):c.1691C>G (p.Ser564Ter) rs864622153
NM_000179.2(MSH6):c.1700dup (p.Phe568fs) rs1553413074
NM_000179.2(MSH6):c.1714C>T (p.Gln572Ter) rs1064795256
NM_000179.2(MSH6):c.171del (p.Arg58fs) rs1553408306
NM_000179.2(MSH6):c.1738del (p.Ser580fs) rs1553413116
NM_000179.2(MSH6):c.1767T>A (p.Tyr589Ter) rs1558662873
NM_000179.2(MSH6):c.1789G>T (p.Glu597Ter) rs1553413178
NM_000179.2(MSH6):c.1794dup (p.Gly599fs) rs587780670
NM_000179.2(MSH6):c.1815_1816del (p.Lys606fs) rs1060502886
NM_000179.2(MSH6):c.1835C>G (p.Ser612Ter) rs63750564
NM_000179.2(MSH6):c.1876C>T (p.Gln626Ter) rs1553413253
NM_000179.2(MSH6):c.1901T>A (p.Leu634Ter) rs63751097
NM_000179.2(MSH6):c.1901dup (p.Leu634fs) rs587782638
NM_000179.2(MSH6):c.1912del (p.Glu639fs) rs1553413294
NM_000179.2(MSH6):c.1923del (p.Glu641fs) rs869040863
NM_000179.2(MSH6):c.1933G>T (p.Glu645Ter) rs1064795591
NM_000179.2(MSH6):c.1969C>T (p.Gln657Ter) rs1114167709
NM_000179.2(MSH6):c.1969del (p.Gln657fs) rs876661205
NM_000179.2(MSH6):c.2010del (p.Gly670_Leu671insTer) rs1060502918
NM_000179.2(MSH6):c.2028_2029del (p.Lys676_Ser677insTer) rs1064794055
NM_000179.2(MSH6):c.2050del (p.Ala683_Leu684insTer) rs1553413424
NM_000179.2(MSH6):c.2061T>A (p.Cys687Ter) rs267608068
NM_000179.2(MSH6):c.2089del (p.Asp697fs) rs863224475
NM_000179.2(MSH6):c.2105C>G (p.Ser702Ter) rs63751419
NM_000179.2(MSH6):c.2127T>A (p.Tyr709Ter) rs587779232
NM_000179.2(MSH6):c.2191C>T (p.Gln731Ter) rs63751442
NM_000179.2(MSH6):c.220G>T (p.Gly74Ter) rs1553408388
NM_000179.2(MSH6):c.2230dup (p.Glu744fs) rs786201050
NM_000179.2(MSH6):c.2238dup (p.Leu747fs) rs1553413599
NM_000179.2(MSH6):c.2260dup (p.Thr754fs) rs1553413640
NM_000179.2(MSH6):c.2269_2270del (p.Thr757fs) rs876661025
NM_000179.2(MSH6):c.2277_2281dup (p.Arg761fs) rs1572726468
NM_000179.2(MSH6):c.2295C>A (p.Cys765Ter) rs63750985
NM_000179.2(MSH6):c.2351_2352del (p.Asn784fs) rs1553413717
NM_000179.2(MSH6):c.2371_2372insAGAC (p.Arg791fs) rs1553413732
NM_000179.2(MSH6):c.2386G>T (p.Glu796Ter) rs1558665297
NM_000179.2(MSH6):c.2419dup (p.Glu807fs) rs1553413784
NM_000179.2(MSH6):c.2503C>T (p.Gln835Ter) rs63751321
NM_000179.2(MSH6):c.2521del (p.Arg841fs) rs1114167771
NM_000179.2(MSH6):c.2550C>G (p.Tyr850Ter) rs374230313
NM_000179.2(MSH6):c.261-1G>C rs863225402
NM_000179.2(MSH6):c.2645_2653del (p.Phe882_Lys885delinsTer) rs876660630
NM_000179.2(MSH6):c.2653A>T (p.Lys885Ter) rs587782593
NM_000179.2(MSH6):c.2680C>T (p.Gln894Ter) rs878853718
NM_000179.2(MSH6):c.2690dup (p.Asn897fs) rs1553414010
NM_000179.2(MSH6):c.2693del (p.Pro898fs) rs1553414022
NM_000179.2(MSH6):c.2731C>T (p.Arg911Ter) rs63751017
NM_000179.2(MSH6):c.2735G>A (p.Trp912Ter) rs1060502876
NM_000179.2(MSH6):c.2739_2740dup (p.Thr914fs) rs1553414092
NM_000179.2(MSH6):c.2748dup (p.Asp917Ter) rs1553414102
NM_000179.2(MSH6):c.2764C>T (p.Arg922Ter) rs587779246
NM_000179.2(MSH6):c.2779dup (p.Ile927fs) rs587782277
NM_000179.2(MSH6):c.2832_2833del (p.Ile944fs) rs730881827
NM_000179.2(MSH6):c.2906_2907del (p.Tyr969fs) rs786203924
NM_000179.2(MSH6):c.2913dup (p.Ile972fs) rs1054003194
NM_000179.2(MSH6):c.2920del (p.Arg974fs) rs1558667222
NM_000179.2(MSH6):c.2931C>A (p.Tyr977Ter) rs63750111
NM_000179.2(MSH6):c.2982C>G (p.Tyr994Ter) rs367758473
NM_000179.2(MSH6):c.2983G>T (p.Glu995Ter) rs63750258
NM_000179.2(MSH6):c.2989A>T (p.Lys997Ter) rs1064794943
NM_000179.2(MSH6):c.2991del (p.Lys997fs) rs1060502890
NM_000179.2(MSH6):c.3013C>T (p.Arg1005Ter) rs63750563
NM_000179.2(MSH6):c.3018C>G (p.Tyr1006Ter) rs1553414395
NM_000179.2(MSH6):c.3021G>A (p.Trp1007Ter) rs587779253
NM_000179.2(MSH6):c.3064G>T (p.Glu1022Ter) rs1114167724
NM_000179.2(MSH6):c.3067G>T (p.Glu1023Ter) rs267608059
NM_000179.2(MSH6):c.3083C>G (p.Ser1028Ter) rs876660853
NM_000179.2(MSH6):c.3089_3092del (p.Lys1030fs) rs1553414488
NM_000179.2(MSH6):c.3097_3100del (p.Met1033fs) rs1553414498
NM_000179.2(MSH6):c.3103C>T (p.Arg1035Ter) rs63749999
NM_000179.2(MSH6):c.3109_3112del (p.Phe1037fs) rs1558668156
NM_000179.2(MSH6):c.3137_3138del (p.Asp1046fs) rs1558668258
NM_000179.2(MSH6):c.3142C>T (p.Gln1048Ter) rs200492211
NM_000179.2(MSH6):c.3159T>A (p.Cys1053Ter) rs767021188
NM_000179.2(MSH6):c.3163dup (p.Ala1055fs) rs878853729
NM_000179.2(MSH6):c.3172+1G>T rs587779255
NM_000179.2(MSH6):c.3220_3221del (p.Met1074fs) rs1553331290
NM_000179.2(MSH6):c.3226C>T (p.Arg1076Cys) rs63750617
NM_000179.2(MSH6):c.3238_3239del (p.Leu1080fs) rs863225406
NM_000179.2(MSH6):c.3238del (p.Leu1080fs) rs1553331337
NM_000179.2(MSH6):c.3252dup (p.Thr1085fs) rs1553331366
NM_000179.2(MSH6):c.3253del (p.Thr1085fs) rs1060502891
NM_000179.2(MSH6):c.3253dup (p.Thr1085fs) rs1114167705
NM_000179.2(MSH6):c.3276dup (p.Gly1093fs) rs1558387361
NM_000179.2(MSH6):c.3281dup (p.Arg1095fs) rs1553331454
NM_000179.2(MSH6):c.3312dup (p.Gly1105fs) rs267608092
NM_000179.2(MSH6):c.3371del (p.Asn1124fs) rs1553331659
NM_000179.2(MSH6):c.3383_3384dup (p.Cys1129fs) rs1572735943
NM_000179.2(MSH6):c.3398del (p.Thr1133fs) rs1553331722
NM_000179.2(MSH6):c.3436C>T (p.Gln1146Ter) rs63750356
NM_000179.2(MSH6):c.3439-1G>T rs587779263
NM_000179.2(MSH6):c.3443del (p.Gly1148fs) rs1553332151
NM_000179.2(MSH6):c.3449T>A (p.Leu1150Ter) rs1057517763
NM_000179.2(MSH6):c.3476dup (p.Tyr1159Ter) rs587782111
NM_000179.2(MSH6):c.3477C>A (p.Tyr1159Ter) rs398123231
NM_000179.2(MSH6):c.3477C>G (p.Tyr1159Ter) rs398123231
NM_000179.2(MSH6):c.3477del (p.Cys1158_Tyr1159insTer) rs1114167767
NM_000179.2(MSH6):c.3487G>T (p.Glu1163Ter) rs587779267
NM_000179.2(MSH6):c.3491dup (p.Cys1165fs) rs876661073
NM_000179.2(MSH6):c.3513_3523del (p.Asp1171_Arg1172insTer) rs1324100572
NM_000179.2(MSH6):c.3514_3515insAA (p.Arg1172fs) rs63751327
NM_000179.2(MSH6):c.3522_3524delinsAT (p.Phe1174fs) rs1572738865
NM_000179.2(MSH6):c.3526A>T (p.Arg1176Ter) rs786203968
NM_000179.2(MSH6):c.3528_3532del (p.Leu1177fs) rs863225408
NM_000179.2(MSH6):c.3555_3556del (p.Ser1185_Gly1186insTer) rs1553332312
NM_000179.2(MSH6):c.3556+1G>A rs1060502926
NM_000179.2(MSH6):c.3556+1G>T rs1060502926
NM_000179.2(MSH6):c.3562del (p.Ser1188fs) rs1553332622
NM_000179.2(MSH6):c.356dup (p.Ile120fs) rs1114167776
NM_000179.2(MSH6):c.3577_3580dup (p.Leu1194Ter) rs773262801
NM_000179.2(MSH6):c.3577_3581del (p.Glu1193fs) rs1060502881
NM_000179.2(MSH6):c.3633dup (p.Val1212fs) rs587776706
NM_000179.2(MSH6):c.3647-1G>A rs587779279
NM_000179.2(MSH6):c.3647delG rs1064795629
NM_000179.2(MSH6):c.3660_3663dup (p.Phe1222fs) rs752404604
NM_000179.2(MSH6):c.3696dup (p.Lys1233Ter) rs1553333017
NM_000179.2(MSH6):c.3699_3702dup (p.Leu1235fs) rs193922343
NM_000179.2(MSH6):c.3699del (p.Glu1234fs) rs1558392033
NM_000179.2(MSH6):c.3732_3735dup (p.Ser1246fs) rs1553333072
NM_000179.2(MSH6):c.3735_3769del (p.Thr1247fs) rs1558392228
NM_000179.2(MSH6):c.3738_3759inv (p.His1248_Ser1251delinsAsnGluTrpTer)
NM_000179.2(MSH6):c.3743_3744insT (p.Tyr1249fs) rs786201084
NM_000179.2(MSH6):c.3744_3773del (p.His1248_Ser1257del) rs863225412
NM_000179.2(MSH6):c.3768T>G (p.Tyr1256Ter) rs63751058
NM_000179.2(MSH6):c.3775_3776del (p.Asn1259fs) rs1572745157
NM_000179.2(MSH6):c.377C>G (p.Ser126Ter) rs1114167689
NM_000179.2(MSH6):c.3793G>T (p.Gly1265Ter) rs754469538
NM_000179.2(MSH6):c.3808_3824dup (p.Cys1275Ter) rs1558393006
NM_000179.2(MSH6):c.3809_3812dup (p.Glu1272fs) rs1553333301
NM_000179.2(MSH6):c.3811_3824del (p.Met1270_Val1271insTer) rs1558393006
NM_000179.2(MSH6):c.3813dup (p.Glu1272fs) rs1553333310
NM_000179.2(MSH6):c.3814_3827dup (p.Asp1277fs) rs1558393070
NM_000179.2(MSH6):c.3818dup (p.Asn1273fs) rs1553333321
NM_000179.2(MSH6):c.3827_3830dup (p.Asp1277fs) rs1060502903
NM_000179.2(MSH6):c.3830_3833del (p.Asp1277fs) rs1572746365
NM_000179.2(MSH6):c.3838C>T (p.Gln1280Ter) rs63750139
NM_000179.2(MSH6):c.3846_3849dup (p.Thr1284fs) rs1114167783
NM_000179.2(MSH6):c.3846dup (p.Ile1283fs) rs866771359
NM_000179.2(MSH6):c.3847_3851delinsTA (p.Ile1283_Thr1284delinsTer) rs1572746634
NM_000179.2(MSH6):c.3854_3861del (p.Thr1284_Phe1285insTer) rs1553333449
NM_000179.2(MSH6):c.3880_3892del (p.Cys1294fs) rs1553333497
NM_000179.2(MSH6):c.3882del (p.Pro1295fs) rs876658817
NM_000179.2(MSH6):c.3893dup (p.Tyr1298Ter) rs1553333530
NM_000179.2(MSH6):c.3897_3931dup (p.Glu1311fs) rs1064793895
NM_000179.2(MSH6):c.3922_3944dup (p.Lys1315fs) rs1553333599
NM_000179.2(MSH6):c.3926_3927insGAGA (p.Glu1310fs) rs1553333605
NM_000179.2(MSH6):c.3930_3970dup (p.Glu1324fs) rs878853742
NM_000179.2(MSH6):c.3930_3978dup (p.Asn1327delinsGlySerTyrSerLysGlyThrTer) rs1558394104
NM_000179.2(MSH6):c.3931del (p.Glu1311fs) rs1558394093
NM_000179.2(MSH6):c.3935_3954dup (p.Lys1319fs) rs1553333644
NM_000179.2(MSH6):c.3936_3951del (p.Ile1313fs) rs1553333635
NM_000179.2(MSH6):c.3939_3940dup (p.Gln1314fs) rs730881830
NM_000179.2(MSH6):c.3939dup (p.Gln1314fs) rs1553333633
NM_000179.2(MSH6):c.3946_3958del (p.Gly1316fs) rs1553333674
NM_000179.2(MSH6):c.394C>T (p.Gln132Ter) rs587782101
NM_000179.2(MSH6):c.3956_3957dup (p.Ala1320fs) rs587779297
NM_000179.2(MSH6):c.3956_3974del (p.Lys1319fs) rs1558394336
NM_000179.2(MSH6):c.3957del (p.Ala1320fs) rs587779297
NM_000179.2(MSH6):c.3972_3979del (p.Lys1325fs) rs1572747837
NM_000179.2(MSH6):c.461C>G (p.Ser154Ter) rs1553411391
NM_000179.2(MSH6):c.463A>T (p.Lys155Ter) rs1276159036
NM_000179.2(MSH6):c.467C>G (p.Ser156Ter) rs63749873
NM_000179.2(MSH6):c.468_471del (p.Glu158fs) rs587779941
NM_000179.2(MSH6):c.478C>T (p.Gln160Ter) rs1114167692
NM_000179.2(MSH6):c.517_520del (p.Leu173fs) rs1553411419
NM_000179.2(MSH6):c.565A>T (p.Lys189Ter) rs786203597
NM_000179.2(MSH6):c.578del (p.Leu193fs) rs587782281
NM_000179.2(MSH6):c.58dup (p.Ala20fs) rs1553408136
NM_000179.2(MSH6):c.599C>G (p.Ser200Ter) rs63751077
NM_000179.2(MSH6):c.642C>A (p.Tyr214Ter) rs1800937
NM_000179.2(MSH6):c.642C>G (p.Tyr214Ter) rs1800937
NM_000179.2(MSH6):c.718C>T (p.Arg240Ter) rs63750019
NM_000179.2(MSH6):c.741del (p.Lys247fs) rs267608041
NM_000179.2(MSH6):c.742C>T (p.Arg248Ter) rs63749980
NM_000179.2(MSH6):c.742del (p.Arg248fs) rs587781691
NM_000179.2(MSH6):c.850_851insC (p.Asp284fs) rs1572720562
NM_000179.2(MSH6):c.908dup (p.Met303fs) rs1057517551
NM_000179.2(MSH6):c.973C>T (p.Gln325Ter) rs1553412397
NM_000179.2(MSH6):c.988dup (p.Ser330fs) rs1553412409
NM_000179.3(MSH6):c.1039G>T (p.Glu347Ter)
NM_000179.3(MSH6):c.10C>T (p.Gln4Ter) rs786201042
NM_000179.3(MSH6):c.1145del (p.His382fs)
NM_000179.3(MSH6):c.1188_1207del (p.Tyr397fs)
NM_000179.3(MSH6):c.1222_1226del (p.Pro408fs)
NM_000179.3(MSH6):c.1242G>A (p.Trp414Ter)
NM_000179.3(MSH6):c.1248dup (p.Lys417Ter) rs778555956
NM_000179.3(MSH6):c.1281C>A (p.Tyr427Ter)
NM_000179.3(MSH6):c.1346T>C (p.Leu449Pro) rs63750741
NM_000179.3(MSH6):c.1368G>A (p.Trp456Ter) rs1572722737
NM_000179.3(MSH6):c.1483C>T rs587779212
NM_000179.3(MSH6):c.1503dup (p.Ile502fs)
NM_000179.3(MSH6):c.1512del (p.Lys504fs) rs1572723270
NM_000179.3(MSH6):c.1608dup (p.Lys537Ter) rs1572723640
NM_000179.3(MSH6):c.1613_1616del (p.Tyr538fs)
NM_000179.3(MSH6):c.1630dup (p.Glu544fs)
NM_000179.3(MSH6):c.1634_1635del (p.Lys545fs) rs267608064
NM_000179.3(MSH6):c.1675_1676dup (p.Phe560fs)
NM_000179.3(MSH6):c.1707del (p.Phe569fs)
NM_000179.3(MSH6):c.1721C>G (p.Ser574Ter)
NM_000179.3(MSH6):c.1739C>A (p.Ser580Ter)
NM_000179.3(MSH6):c.1767del rs1114167765
NM_000179.3(MSH6):c.1805C>G (p.Ser602Ter) rs730881816
NM_000179.3(MSH6):c.1819del (p.Thr607fs) rs587779221
NM_000179.3(MSH6):c.1835del (p.Ser612fs)
NM_000179.3(MSH6):c.1836dup (p.Leu613fs)
NM_000179.3(MSH6):c.1933_1949del (p.Glu645fs)
NM_000179.3(MSH6):c.2020_2147delinsTTGT (p.Gly674fs) rs1558663954
NM_000179.3(MSH6):c.2041del (p.Leu681fs) rs1572725436
NM_000179.3(MSH6):c.2079delA rs267608083
NM_000179.3(MSH6):c.2118del (p.Phe706fs) rs1572725803
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.2239del (p.Phe746_Leu747insTer) rs1572726309
NM_000179.3(MSH6):c.2265del (p.Gly756fs)
NM_000179.3(MSH6):c.2344_2345CT[1] (p.Leu782_Cys783insTer)
NM_000179.3(MSH6):c.2419G>T (p.Glu807Ter) rs587779923
NM_000179.3(MSH6):c.246dup (p.Ala83fs)
NM_000179.3(MSH6):c.2473del (p.Ile825fs)
NM_000179.3(MSH6):c.2504del (p.Gln835fs) rs1572727440
NM_000179.3(MSH6):c.2552_2607del (p.Ser851fs)
NM_000179.3(MSH6):c.2602dup (p.Met868fs) rs1572727797
NM_000179.3(MSH6):c.2603del (p.Met868fs)
NM_000179.3(MSH6):c.2610_2611dup (p.Ile871fs)
NM_000179.3(MSH6):c.2647A>T (p.Lys883Ter)
NM_000179.3(MSH6):c.2662_2663del (p.Lys888fs)
NM_000179.3(MSH6):c.2673_2674CT[2] (p.Leu893fs) rs1572728112
NM_000179.3(MSH6):c.2690_2691insG (p.Asn897fs)
NM_000179.3(MSH6):c.2749dup (p.Asp917fs)
NM_000179.3(MSH6):c.2759dup (p.Ala921fs) rs1114167794
NM_000179.3(MSH6):c.2802_2803CT[1] (p.Asp934_Ser935insTer) rs878853721
NM_000179.3(MSH6):c.2846_2847AG[1] (p.Ser950fs) rs869312770
NM_000179.3(MSH6):c.2873del (p.Gln958fs) rs1572729033
NM_000179.3(MSH6):c.2961dup (p.Arg988fs)
NM_000179.3(MSH6):c.3018C>A (p.Tyr1006Ter) rs1553414395
NM_000179.3(MSH6):c.3078dup (p.Val1027fs) rs1572730002
NM_000179.3(MSH6):c.3091dup (p.Asp1031fs) rs1572730065
NM_000179.3(MSH6):c.313del (p.Trp105fs) rs1572708636
NM_000179.3(MSH6):c.3172+2T>G
NM_000179.3(MSH6):c.3173-1G>C rs397515875
NM_000179.3(MSH6):c.3202C>T rs63749843
NM_000179.3(MSH6):c.3209del (p.Gly1070fs) rs1315445200
NM_000179.3(MSH6):c.3223dup (p.Cys1075fs) rs1572735072
NM_000179.3(MSH6):c.3261del rs267608078
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs) rs267608078
NM_000179.3(MSH6):c.3338_3342dup (p.Ile1115delinsPheTer)
NM_000179.3(MSH6):c.3399_3403del (p.Gly1134fs)
NM_000179.3(MSH6):c.3416dup rs587781544
NM_000179.3(MSH6):c.3439-2A>G rs267608098
NM_000179.3(MSH6):c.3510_3511insTAA (p.Asp1171Ter)
NM_000179.3(MSH6):c.354_355del (p.Phe119fs)
NM_000179.3(MSH6):c.3554C>G (p.Ser1185Ter) rs1572739043
NM_000179.3(MSH6):c.3573dup (p.Val1192fs) rs1057517764
NM_000179.3(MSH6):c.3655_3658delinsCC (p.Thr1219fs)
NM_000179.3(MSH6):c.3693_3694insTA (p.Val1232Ter)
NM_000179.3(MSH6):c.3699dup (p.Glu1234fs)
NM_000179.3(MSH6):c.3724_3726del rs63749942
NM_000179.3(MSH6):c.3753_3756dup (p.Val1253fs) rs876661222
NM_000179.3(MSH6):c.3766del (p.Tyr1256fs)
NM_000179.3(MSH6):c.3832_3838dup (p.Gln1280fs) rs1572746382
NM_000179.3(MSH6):c.3863_3865dup (p.Phe1289Ter)
NM_000179.3(MSH6):c.3910dup (p.Arg1304fs)
NM_000179.3(MSH6):c.3916_3920dup (p.Asn1307fs)
NM_000179.3(MSH6):c.3934_3937dup (p.Ile1313fs) rs760190301
NM_000179.3(MSH6):c.394_395del (p.Gln132fs)
NM_000179.3(MSH6):c.3962_3965dup (p.Phe1323fs)
NM_000179.3(MSH6):c.3964G>T rs1553333707
NM_000179.3(MSH6):c.3966dup (p.Phe1323fs) rs886044911
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.498C>G (p.Tyr166Ter)
NM_000179.3(MSH6):c.524del (p.Ala175fs)
NM_000179.3(MSH6):c.529dup (p.Gln177fs)
NM_000179.3(MSH6):c.564dup (p.Lys189Ter) rs1572716371
NM_000179.3(MSH6):c.644dup (p.Thr216fs) rs1572719776
NM_000179.3(MSH6):c.651_655del (p.Asp217fs)
NM_000179.3(MSH6):c.688del (p.Glu230fs)
NM_000179.3(MSH6):c.738_741del (p.Lys246fs)
NM_000179.3(MSH6):c.757_758del (p.Asp253fs)
NM_000179.3(MSH6):c.885dup (p.Val296fs) rs1572720704
NM_000179.3(MSH6):c.892C>T (p.Arg298Ter) rs146816935
NM_000179.3(MSH6):c.901A>T (p.Lys301Ter) rs1572720794
NM_000179.3(MSH6):c.97del (p.Arg33fs)
NM_001281492.1(MSH6):c.1031_1032dup (p.Gln345fs) rs63750854
NM_001281492.1(MSH6):c.1059_1072delinsAGC (p.Glu354fs) rs1114167715
NM_001281492.1(MSH6):c.1200del (p.Ser402fs) rs587779216
NM_001281492.1(MSH6):c.1216_1219AGTA[1] (p.Lys407fs) rs863224829
NM_001281492.1(MSH6):c.1244_1247del (p.Lys415fs) rs63749874
NM_001281492.1(MSH6):c.1245_1246AG[1] (p.Glu416fs) rs267608076
NM_001281492.1(MSH6):c.1315_1316del (p.Phe439fs) rs587783056
NM_001281492.1(MSH6):c.1416_1419del (p.Glu474fs) rs63750735
NM_001281492.1(MSH6):c.1511_1512del (p.Thr503_Leu504insTer) rs267608082
NM_001281492.1(MSH6):c.1567_1570dup (p.Met524fs) rs63751167
NM_001281492.1(MSH6):c.1670_1671GT[1] (p.Val558fs) rs63750075
NM_001281492.1(MSH6):c.1689dup (p.Cys564fs) rs267608083
NM_001281492.1(MSH6):c.1760_1763del (p.Val587fs) rs267608058
NM_001281492.1(MSH6):c.1918_1922delinsT (p.Gly640fs) rs864622585
NM_001281492.1(MSH6):c.1958_1959del (p.Leu652_Cys653insTer) rs267608065
NM_001281492.1(MSH6):c.2108_2109AG[1] (p.Gln705fs) rs1064794164
NM_001281492.1(MSH6):c.2145dup (p.Glu716Ter) rs587779241
NM_001281492.1(MSH6):c.237+7546_237+7549dup rs1473648816
NM_001281492.1(MSH6):c.237+7570_238-7563delinsT rs1553410300
NM_001281492.1(MSH6):c.238-7503_238-7502del rs1060502875
NM_001281492.1(MSH6):c.238-7522del rs1114167728
NM_001281492.1(MSH6):c.2382_2383del (p.Gly795fs) rs1553414131
NM_001281492.1(MSH6):c.2638del (p.Thr880fs) rs1114167773
NM_001281492.1(MSH6):c.2647_2651del (p.Lys883fs) rs587782712
NM_001281492.1(MSH6):c.2718_2719del (p.Phe907fs) rs1553414519
NM_001281492.1(MSH6):c.2729_2730del (p.Asn909_Phe910insTer) rs267608042
NM_001281492.1(MSH6):c.2763_2764AG[1] (p.Glu922fs) rs63750833
NM_001281492.1(MSH6):c.2806_2807TA[1] (p.Tyr936_Ser937delinsTer) rs63749821
NM_001281492.1(MSH6):c.2878_2884del (p.Glu960fs) rs587779259
NM_001281492.1(MSH6):c.2921_2922del (p.Phe974fs) rs267608092
NM_001281492.1(MSH6):c.2922del (p.Phe974fs) rs267608092
NM_001281492.1(MSH6):c.2942_2945dup (p.Asp982delinsGluTer) rs587782562
NM_001281492.1(MSH6):c.3026del (p.Gly1009fs) rs587781544
NM_001281492.1(MSH6):c.3123_3124del (p.Asp1041fs) rs63750194
NM_001281492.1(MSH6):c.3124_3125AG[1] (p.Arg1042fs) rs398123232
NM_001281492.1(MSH6):c.3124dup (p.Arg1042fs) rs63751327
NM_001281492.1(MSH6):c.3149_3152CAGA[1] (p.Asp1051fs) rs1553332297
NM_001281492.1(MSH6):c.3172_3175dup (p.Thr1059fs) rs786203331
NM_001281492.1(MSH6):c.3309_3312del (p.Lys1103fs) rs193922343
NM_001281492.1(MSH6):c.3324_3325TA[1] (p.Ile1109fs) rs1064794384
NM_001281492.1(MSH6):c.3407_3408AT[1] (p.Met1137fs) rs267608114
NM_001281492.1(MSH6):c.3414dup (p.Cys1139fs) rs267608118
NM_001281492.1(MSH6):c.3450_3456del (p.Glu1151fs) rs63751319
NM_001281492.1(MSH6):c.3457_3460dup (p.Thr1154fs) rs267608128
NM_001281492.1(MSH6):c.3461delinsTTAAT (p.Thr1154fs) rs1553333438
NM_001281492.1(MSH6):c.3488_3491dup (p.Pro1165fs) rs1553333500
NM_001281492.1(MSH6):c.3530_3537dup (p.Glu1180fs) rs587779295
NM_001281492.1(MSH6):c.3548_3551dup (p.Gln1184fs) rs267608126
NM_001281492.1(MSH6):c.3549_3567dup (p.Ala1190delinsSerLysGlyThrTer) rs63750767
NM_001281492.1(MSH6):c.3569_3572del (p.Ala1190fs) rs267608120
NM_001281492.1(MSH6):c.3590_3593dup (p.Leu1200fs) rs1553333738
NM_001281492.1(MSH6):c.3590dup (p.Asn1197fs) rs587782326
NM_001281492.1(MSH6):c.740_744AGAGA[1] (p.Arg248_Arg249insTer) rs267608077
NM_001281492.1(MSH6):c.749_753del (p.Asp250fs) rs587779206
NM_001281492.1(MSH6):c.778_780delinsAA (p.Asp260fs) rs863225398
NM_001281492.1(MSH6):c.800_801del (p.Tyr267fs) rs63750439
NM_001281492.1(MSH6):c.962del (p.Phe321fs) rs869312769
NM_001281493.1(MSH6):c.-11del rs1060502941
NM_001281493.1(MSH6):c.-166dup rs267608041
NM_001281493.1(MSH6):c.-184dup rs1558659056
NM_001281493.1(MSH6):c.-1_1del (p.Met1fs) rs1558659699
NM_001281493.1(MSH6):c.-203_-202CA[1] rs1553412129
NM_001281493.1(MSH6):c.-204_-198del rs1558658980
NM_001281493.1(MSH6):c.-209_-194del rs1558658971
NM_001281493.1(MSH6):c.-210_-209del rs1572720016
NM_001281493.1(MSH6):c.-213_-207del rs1572719974
NM_001281493.1(MSH6):c.-256dup rs63750955
NM_001281493.1(MSH6):c.-29_-24delinsTTCG rs1114167748
NM_001281493.1(MSH6):c.-34_-33del rs1060502888
NM_001281493.1(MSH6):c.-62dup rs1553412283
NM_001281493.1(MSH6):c.-653_-652del rs1558644886
NM_001281493.1(MSH6):c.-658del rs1553408158
NM_001281493.1(MSH6):c.-731_-730delinsCT rs1558644683
NM_001281493.1(MSH6):c.-7dup rs863225421
NM_001281493.1(MSH6):c.-98del rs1114167696

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