ClinVar Miner

List of variants in gene MSH6 reported by Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 267
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HGVS dbSNP gnomAD frequency
NM_000179.3(MSH6):c.261-36A>G rs1800931 0.03614
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.457+13A>G rs1800933 0.00434
NM_000179.3(MSH6):c.458-39C>T rs142060571 0.00302
NM_000179.3(MSH6):c.3911G>A (p.Arg1304Lys) rs34625968 0.00253
NM_000179.3(MSH6):c.4002-28_4002-26dup rs200989473 0.00238
NM_000179.3(MSH6):c.3439-16C>T rs192614006 0.00237
NM_000179.3(MSH6):c.431G>T (p.Ser144Ile) rs3211299 0.00158
NM_000179.3(MSH6):c.3647-6T>A rs182871847 0.00134
NM_000179.3(MSH6):c.4001+39C>G rs201482798 0.00112
NM_000179.3(MSH6):c.984C>T (p.Ser328=) rs138143769 0.00101
NM_000179.3(MSH6):c.3265T>C (p.Leu1089=) rs34490141 0.00096
NM_000179.3(MSH6):c.1526T>C (p.Val509Ala) rs63751005 0.00067
NM_000179.3(MSH6):c.1665A>G (p.Ala555=) rs146785465 0.00066
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.1869C>T (p.Pro623=) rs141242295 0.00058
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.-18G>T rs199913053 0.00027
NM_000179.3(MSH6):c.4002-10T>A rs545466048 0.00026
NM_000179.3(MSH6):c.3438+11_3438+14del rs377746844 0.00023
NM_000179.3(MSH6):c.73G>T (p.Ala25Ser) rs267608026 0.00023
NM_000179.3(MSH6):c.*49_*68dup rs777409019 0.00021
NM_000179.3(MSH6):c.3961A>G (p.Arg1321Gly) rs41295278 0.00019
NM_000179.3(MSH6):c.4001+11_4001+15dup rs587779302 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.884A>G (p.Lys295Arg) rs267608051 0.00014
NM_000179.3(MSH6):c.59C>T (p.Ala20Val) rs63750664 0.00013
NM_000179.3(MSH6):c.650A>G (p.Asp217Gly) rs554012110 0.00013
NM_000179.3(MSH6):c.3203G>A (p.Arg1068Gln) rs398123230 0.00012
NM_000179.3(MSH6):c.3674C>T (p.Thr1225Met) rs63750370 0.00011
NM_000179.3(MSH6):c.628-7C>A rs373129248 0.00011
NM_000179.3(MSH6):c.1729C>T (p.Arg577Cys) rs542838372 0.00010
NM_000179.3(MSH6):c.1875C>T (p.Ser625=) rs63749886 0.00010
NM_000179.3(MSH6):c.2417C>G (p.Ser806Cys) rs372990379 0.00010
NM_000179.3(MSH6):c.3245C>T (p.Pro1082Leu) rs191109849 0.00010
NM_000179.3(MSH6):c.3788G>A (p.Arg1263His) rs147852216 0.00010
NM_000179.3(MSH6):c.3024C>T (p.Thr1008=) rs587780675 0.00009
NM_000179.3(MSH6):c.3172+20T>C rs3136335 0.00009
NM_000179.3(MSH6):c.3439-10T>A rs730881819 0.00009
NM_000179.3(MSH6):c.3727A>T (p.Thr1243Ser) rs147453999 0.00009
NM_000179.3(MSH6):c.660A>C (p.Glu220Asp) rs1800938 0.00009
NM_000179.3(MSH6):c.1474A>G (p.Met492Val) rs61754783 0.00008
NM_000179.3(MSH6):c.2281A>G (p.Arg761Gly) rs199876321 0.00008
NM_000179.3(MSH6):c.2384T>C (p.Ile795Thr) rs202127474 0.00007
NM_000179.3(MSH6):c.1050C>T (p.Ala350=) rs730881802 0.00006
NM_000179.3(MSH6):c.178T>C (p.Leu60=) rs35819209 0.00006
NM_000179.3(MSH6):c.3986C>T (p.Ser1329Leu) rs199594809 0.00006
NM_000179.3(MSH6):c.147C>T (p.Ala49=) rs768803986 0.00005
NM_000179.3(MSH6):c.1844G>C (p.Cys615Ser) rs730881793 0.00005
NM_000179.3(MSH6):c.2239C>T (p.Leu747=) rs63751305 0.00005
NM_000179.3(MSH6):c.3399T>C (p.Thr1133=) rs61748084 0.00005
NM_000179.3(MSH6):c.3852G>A (p.Thr1284=) rs2229018 0.00005
NM_000179.3(MSH6):c.-24G>A rs876661137 0.00004
NM_000179.3(MSH6):c.107C>T (p.Ala36Val) rs61756469 0.00004
NM_000179.3(MSH6):c.2271C>T (p.Thr757=) rs142172006 0.00004
NM_000179.3(MSH6):c.2904C>G (p.Val968=) rs150683226 0.00004
NM_000179.3(MSH6):c.3557-3A>T rs41295274 0.00004
NM_000179.3(MSH6):c.3729A>G (p.Thr1243=) rs773807182 0.00004
NM_000179.3(MSH6):c.-2G>T rs374748889 0.00003
NM_000179.3(MSH6):c.-8C>T rs565211544 0.00003
NM_000179.3(MSH6):c.2780T>C (p.Ile927Thr) rs587779926 0.00003
NM_000179.3(MSH6):c.3284G>A (p.Arg1095His) rs63750253 0.00003
NM_000179.3(MSH6):c.3543C>G (p.Asp1181Glu) rs267608100 0.00003
NM_000179.3(MSH6):c.3772C>G (p.Gln1258Glu) rs63750554 0.00003
NM_000179.3(MSH6):c.4002-14T>C rs587781041 0.00003
NM_000179.3(MSH6):c.628-12C>T rs752105994 0.00003
NM_000179.3(MSH6):c.166_171dup (p.54GP[3]) rs786201776 0.00002
NM_000179.3(MSH6):c.1773A>G (p.Pro591=) rs752239740 0.00002
NM_000179.3(MSH6):c.2092C>G (p.Gln698Glu) rs63750832 0.00002
NM_000179.3(MSH6):c.3163G>A (p.Ala1055Thr) rs587779254 0.00002
NM_000179.3(MSH6):c.321T>C (p.Pro107=) rs730881823 0.00002
NM_000179.3(MSH6):c.3226C>T (p.Arg1076Cys) rs63750617 0.00002
NM_000179.3(MSH6):c.354A>G (p.Thr118=) rs558590898 0.00002
NM_000179.3(MSH6):c.457+31T>G rs574391322 0.00002
NM_000179.3(MSH6):c.759T>C (p.Asp253=) rs757143365 0.00002
NM_000179.3(MSH6):c.899G>A (p.Arg300Gln) rs55760494 0.00002
NM_000179.3(MSH6):c.94G>T (p.Gly32Cys) rs776859837 0.00002
NM_000179.3(MSH6):c.-12C>G rs766407370 0.00001
NM_000179.3(MSH6):c.1168G>A (p.Asp390Asn) rs147737737 0.00001
NM_000179.3(MSH6):c.1275C>A (p.Ile425=) rs786203122 0.00001
NM_000179.3(MSH6):c.1444C>T (p.Arg482Ter) rs63750909 0.00001
NM_000179.3(MSH6):c.1813A>G (p.Thr605Ala) rs780167298 0.00001
NM_000179.3(MSH6):c.1984A>G (p.Met662Val) rs1060502935 0.00001
NM_000179.3(MSH6):c.2074A>C (p.Lys692Gln) rs752532578 0.00001
NM_000179.3(MSH6):c.2154C>T (p.Ser718=) rs771662801 0.00001
NM_000179.3(MSH6):c.2223C>T (p.Asn741=) rs769668640 0.00001
NM_000179.3(MSH6):c.225G>A (p.Gly75=) rs786202321 0.00001
NM_000179.3(MSH6):c.2515G>C (p.Asp839His) rs1553413868 0.00001
NM_000179.3(MSH6):c.2550C>T (p.Tyr850=) rs374230313 0.00001
NM_000179.3(MSH6):c.2694T>C (p.Pro898=) rs769668106 0.00001
NM_000179.3(MSH6):c.3113A>G (p.Tyr1038Cys) rs773357672 0.00001
NM_000179.3(MSH6):c.3334G>A (p.Asp1112Asn) rs773955368 0.00001
NM_000179.3(MSH6):c.3439G>A (p.Ala1147Thr) rs770054790 0.00001
NM_000179.3(MSH6):c.3441T>G (p.Ala1147=) rs1389565996 0.00001
NM_000179.3(MSH6):c.3514dup (p.Arg1172fs) rs63751327 0.00001
NM_000179.3(MSH6):c.3565A>G (p.Thr1189Ala) rs753778809 0.00001
NM_000179.3(MSH6):c.3754T>C (p.Leu1252=) rs1415810815 0.00001
NM_000179.3(MSH6):c.3801+6T>C rs749922503 0.00001
NM_000179.3(MSH6):c.3879T>C (p.Ala1293=) rs752369374 0.00001
NM_000179.3(MSH6):c.4002-8A>C rs778957100 0.00001
NM_000179.3(MSH6):c.892C>T (p.Arg298Ter) rs146816935 0.00001
NM_000179.3(MSH6):c.*23A>G
NM_000179.3(MSH6):c.*24_*28del rs587779200
NM_000179.3(MSH6):c.-17C>G rs370816858
NM_000179.3(MSH6):c.-25C>G
NM_000179.3(MSH6):c.-6G>T rs730881822
NM_000179.3(MSH6):c.1002G>A (p.Lys334=)
NM_000179.3(MSH6):c.1176T>A (p.Asp392Glu) rs587779912
NM_000179.3(MSH6):c.1336G>T (p.Glu446Ter) rs1669321230
NM_000179.3(MSH6):c.146C>T (p.Ala49Val) rs775498550
NM_000179.3(MSH6):c.1483C>T (p.Arg495Ter) rs587779212
NM_000179.3(MSH6):c.1511A>G (p.Lys504Arg)
NM_000179.3(MSH6):c.1519dup (p.Arg507fs) rs876658881
NM_000179.3(MSH6):c.153C>T (p.Ser51=) rs762061869
NM_000179.3(MSH6):c.1561A>T (p.Thr521Ser) rs587779916
NM_000179.3(MSH6):c.157G>T (p.Ala53Ser) rs2103939250
NM_000179.3(MSH6):c.165T>G (p.Pro55=) rs1553408290
NM_000179.3(MSH6):c.1747A>G (p.Arg583Gly) rs1558662808
NM_000179.3(MSH6):c.1777del (p.Gln593fs)
NM_000179.3(MSH6):c.1823T>C (p.Ile608Thr) rs1553413208
NM_000179.3(MSH6):c.1825C>G (p.Leu609Val) rs1426910114
NM_000179.3(MSH6):c.1907C>G (p.Thr636Ser) rs1553413281
NM_000179.3(MSH6):c.2045C>T (p.Ser682Phe) rs587779225
NM_000179.3(MSH6):c.2064C>G (p.Val688=) rs1057524297
NM_000179.3(MSH6):c.2084T>C (p.Leu695Pro) rs2104387817
NM_000179.3(MSH6):c.2117T>G (p.Phe706Cys) rs587779231
NM_000179.3(MSH6):c.218A>C (p.Asn73Thr)
NM_000179.3(MSH6):c.2194C>T (p.Arg732Ter) rs63751127
NM_000179.3(MSH6):c.2222dup (p.Asn741fs)
NM_000179.3(MSH6):c.2261C>T (p.Thr754Ile) rs1669440639
NM_000179.3(MSH6):c.2282G>A (p.Arg761Lys) rs587779233
NM_000179.3(MSH6):c.2291C>T (p.Thr764Ile) rs561198849
NM_000179.3(MSH6):c.2407G>C (p.Asp803His) rs1553413770
NM_000179.3(MSH6):c.2488T>G (p.Ser830Ala) rs1572727368
NM_000179.3(MSH6):c.2530dup (p.Met844fs)
NM_000179.3(MSH6):c.2561_2562delinsTT
NM_000179.3(MSH6):c.265G>A (p.Asp89Asn) rs1668683890
NM_000179.3(MSH6):c.2689A>T (p.Asn897Tyr) rs1064794771
NM_000179.3(MSH6):c.2764C>T (p.Arg922Ter) rs587779246
NM_000179.3(MSH6):c.2783C>A (p.Thr928Asn) rs781482454
NM_000179.3(MSH6):c.2796del (p.Phe933fs) rs2104424501
NM_000179.3(MSH6):c.2809T>C (p.Tyr937His)
NM_000179.3(MSH6):c.2849G>C (p.Ser950Thr)
NM_000179.3(MSH6):c.2945C>G (p.Pro982Arg) rs2104432331
NM_000179.3(MSH6):c.294C>A (p.Ala98=)
NM_000179.3(MSH6):c.2982C>A (p.Tyr994Ter)
NM_000179.3(MSH6):c.3013C>T (p.Arg1005Ter) rs63750563
NM_000179.3(MSH6):c.3029C>G (p.Thr1010Ser) rs768925694
NM_000179.3(MSH6):c.3059A>G (p.Asn1020Ser) rs1669544206
NM_000179.3(MSH6):c.3067G>T (p.Glu1023Ter) rs267608059
NM_000179.3(MSH6):c.3104G>A (p.Arg1035Gln) rs730881801
NM_000179.3(MSH6):c.3150T>C (p.Ala1050=) rs776990271
NM_000179.3(MSH6):c.3151G>A (p.Val1051Ile) rs576269342
NM_000179.3(MSH6):c.3173-18T>A rs189672273
NM_000179.3(MSH6):c.3173-41C>A
NM_000179.3(MSH6):c.3173-44dup rs757801692
NM_000179.3(MSH6):c.3215G>A (p.Gly1072Asp) rs781243845
NM_000179.3(MSH6):c.3217C>G (p.Pro1073Ala) rs142254875
NM_000179.3(MSH6):c.3221del (p.Met1074fs) rs267608090
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.3258C>A (p.Pro1086=) rs863224331
NM_000179.3(MSH6):c.3259C>T (p.Pro1087Ser) rs63750998
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.3299C>T (p.Thr1100Met) rs63750442
NM_000179.3(MSH6):c.334A>G (p.Asn112Asp) rs864622397
NM_000179.3(MSH6):c.3384T>C (p.Tyr1128=) rs544518097
NM_000179.3(MSH6):c.3438+13dup rs267608097
NM_000179.3(MSH6):c.3438+16del rs1396782652
NM_000179.3(MSH6):c.3439-26_3439-25del rs750310368
NM_000179.3(MSH6):c.3439-35C>A
NM_000179.3(MSH6):c.3439-8A>G rs863224332
NM_000179.3(MSH6):c.3532_3533insTATG (p.Gly1178fs)
NM_000179.3(MSH6):c.3546AAT[1] (p.Ile1183del) rs751279985
NM_000179.3(MSH6):c.3556+13T>C rs1669884662
NM_000179.3(MSH6):c.3556+24A>G
NM_000179.3(MSH6):c.3556+36_3556+39del rs55684722
NM_000179.3(MSH6):c.3557-49A>C
NM_000179.3(MSH6):c.3557-4del rs267608102
NM_000179.3(MSH6):c.3557-4dup rs267608102
NM_000179.3(MSH6):c.3557-5_3557-4del
NM_000179.3(MSH6):c.3557-5_3557-4dup rs267608102
NM_000179.3(MSH6):c.3589A>G (p.Thr1197Ala)
NM_000179.3(MSH6):c.3609_3612del (p.His1203fs) rs587779274
NM_000179.3(MSH6):c.3646+48T>G
NM_000179.3(MSH6):c.3647-11_3647-6del rs1670035485
NM_000179.3(MSH6):c.3647-1G>A rs587779279
NM_000179.3(MSH6):c.3647-2A>C rs267608111
NM_000179.3(MSH6):c.3647-32_3647-29dup
NM_000179.3(MSH6):c.3647-48_3647-44del
NM_000179.3(MSH6):c.3652G>C (p.Gly1218Arg) rs776407427
NM_000179.3(MSH6):c.3664T>G (p.Phe1222Val) rs775265464
NM_000179.3(MSH6):c.3697_3733dup (p.Phe1245Ter)
NM_000179.3(MSH6):c.3710A>C (p.Glu1237Ala) rs2104540805
NM_000179.3(MSH6):c.3734T>C (p.Phe1245Ser)
NM_000179.3(MSH6):c.3747C>T (p.Tyr1249=) rs1057520326
NM_000179.3(MSH6):c.3758T>A (p.Val1253Glu) rs202066386
NM_000179.3(MSH6):c.3799_3800del (p.Met1267fs) rs267608114
NM_000179.3(MSH6):c.3801+15T>C rs779720344
NM_000179.3(MSH6):c.3801+23C>T
NM_000179.3(MSH6):c.3801+47C>T
NM_000179.3(MSH6):c.3802-29A>G rs752342663
NM_000179.3(MSH6):c.3839A>C (p.Gln1280Pro) rs1210663110
NM_000179.3(MSH6):c.3847_3850dup (p.Thr1284fs) rs267608128
NM_000179.3(MSH6):c.3848_3850dup (p.Ile1283dup) rs1553333420
NM_000179.3(MSH6):c.3959_3962del (p.Ala1320fs) rs267608120
NM_000179.3(MSH6):c.3969T>C (p.Phe1323=) rs1057520473
NM_000179.3(MSH6):c.3984_3987dup (p.Leu1330fs) rs267608121
NM_000179.3(MSH6):c.4001+27TAAC[3] rs267608136
NM_000179.3(MSH6):c.4001+2T>C rs267608131
NM_000179.3(MSH6):c.4001+2TAAC[2] rs267608132
NM_000179.3(MSH6):c.4001+2TAAC[4] rs267608132
NM_000179.3(MSH6):c.4001+41_4001+48dup
NM_000179.3(MSH6):c.4001+42_4001+45dup rs587779304
NM_000179.3(MSH6):c.4001+42_4001+46dup
NM_000179.3(MSH6):c.4001+50_4001+51dup rs199687113
NM_000179.3(MSH6):c.4001+8_4001+12dup rs1424851908
NM_000179.3(MSH6):c.4001G>A (p.Arg1334Gln) rs267608122
NM_000179.3(MSH6):c.4002-10del rs59056100
NM_000179.3(MSH6):c.4002-10dup rs59056100
NM_000179.3(MSH6):c.4002-11_4002-10del rs59056100
NM_000179.3(MSH6):c.4002-11_4002-10dup rs59056100
NM_000179.3(MSH6):c.4002-12_4002-10del rs59056100
NM_000179.3(MSH6):c.4002-12_4002-10dup rs59056100
NM_000179.3(MSH6):c.4002-13_4002-10del
NM_000179.3(MSH6):c.4002-14_4002-10del
NM_000179.3(MSH6):c.4002-15_4002-10del
NM_000179.3(MSH6):c.4002-32_4002-29del
NM_000179.3(MSH6):c.4002-33A>C
NM_000179.3(MSH6):c.4002-44T>C
NM_000179.3(MSH6):c.4068_4071dup (p.Lys1358delinsAspTer) rs55740729
NM_000179.3(MSH6):c.4071_*4dup (p.Ile1357_Ter1361=) rs1491544951
NM_000179.3(MSH6):c.4077_4080dup (p.Ter1361IleextTer?) rs575068534
NM_000179.3(MSH6):c.457+23G>A
NM_000179.3(MSH6):c.457+31_457+34del
NM_000179.3(MSH6):c.457+32TG[10] rs397839804
NM_000179.3(MSH6):c.457+32TG[12] rs397839804
NM_000179.3(MSH6):c.457+32TG[8] rs397839804
NM_000179.3(MSH6):c.457+32TG[9] rs397839804
NM_000179.3(MSH6):c.458-29T>G
NM_000179.3(MSH6):c.49C>T (p.Leu17=)
NM_000179.3(MSH6):c.606A>T (p.Pro202=)
NM_000179.3(MSH6):c.627+25_627+27del rs560035113
NM_000179.3(MSH6):c.628-17C>A rs369971640
NM_000179.3(MSH6):c.64A>G (p.Lys22Glu) rs1060502897
NM_000179.3(MSH6):c.691G>C (p.Val231Leu) rs1572719960
NM_000179.3(MSH6):c.742C>T (p.Arg248Ter) rs63749980
NM_000179.3(MSH6):c.773T>C (p.Ile258Thr) rs1553412195
NM_000179.3(MSH6):c.806C>G (p.Thr269Ser) rs587779322
NM_000179.3(MSH6):c.893G>A (p.Arg298Gln) rs765237563
NM_000179.3(MSH6):c.927T>C (p.Ser309=) rs771288794
NM_000179.3(MSH6):c.931_932delinsTT
NM_000179.3(MSH6):c.936_945del (p.Lys313fs)
NM_000179.3(MSH6):c.97C>T (p.Arg33Cys) rs730881811
NM_000179.3(MSH6):c.997dup (p.Thr333fs)

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