ClinVar Miner

List of variants in gene MSH6 studied for DNA repair disease

Included ClinVar conditions (124):
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Gene type:
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Total variants: 105
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HGVS dbSNP gnomAD frequency
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.642C>T (p.Tyr214=) rs1800937 0.07457
NM_000179.3(MSH6):c.2633T>C (p.Val878Ala) rs2020912 0.00448
NM_000179.3(MSH6):c.3439-16C>T rs192614006 0.00237
NM_000179.3(MSH6):c.1526T>C (p.Val509Ala) rs63751005 0.00067
NM_000179.3(MSH6):c.1508C>G (p.Ser503Cys) rs63750897 0.00059
NM_000179.3(MSH6):c.2561A>T (p.Lys854Met) rs34374438 0.00036
NM_000179.3(MSH6):c.3217C>T (p.Pro1073Ser) rs142254875 0.00028
NM_000179.3(MSH6):c.73G>T (p.Ala25Ser) rs267608026 0.00023
NM_000179.3(MSH6):c.187T>C (p.Ser63Pro) rs763702846 0.00013
NM_000179.3(MSH6):c.3788G>A (p.Arg1263His) rs147852216 0.00010
NM_000179.3(MSH6):c.1063G>A (p.Gly355Ser) rs587778531 0.00009
NM_000179.3(MSH6):c.3172+20T>C rs3136335 0.00009
NM_000179.3(MSH6):c.660A>C (p.Glu220Asp) rs1800938 0.00009
NM_000179.3(MSH6):c.1814C>G (p.Thr605Ser) rs587781616 0.00006
NM_000179.3(MSH6):c.831A>C (p.Glu277Asp) rs374486449 0.00006
NM_000179.3(MSH6):c.1402C>T (p.Arg468Cys) rs369456858 0.00004
NM_000179.3(MSH6):c.3557-17A>T rs542542093 0.00004
NM_000179.3(MSH6):c.362G>A (p.Arg121His) rs769279475 0.00003
NM_000179.3(MSH6):c.10C>T (p.Gln4Ter) rs786201042 0.00002
NM_000179.3(MSH6):c.1739C>T (p.Ser580Leu) rs41295270 0.00002
NM_000179.3(MSH6):c.3163G>A (p.Ala1055Thr) rs587779254 0.00002
NM_000179.3(MSH6):c.3202C>T (p.Arg1068Ter) rs63749843 0.00002
NM_000179.3(MSH6):c.3244C>T (p.Pro1082Ser) rs186240214 0.00002
NM_000179.3(MSH6):c.3557G>A (p.Gly1186Asp) rs587781690 0.00002
NM_000179.3(MSH6):c.3801+14G>T rs755626529 0.00002
NM_000179.3(MSH6):c.4028C>G (p.Ser1343Ter) rs863225420 0.00002
NM_000179.3(MSH6):c.1190A>G (p.Tyr397Cys) rs63750065 0.00001
NM_000179.3(MSH6):c.136G>A (p.Gly46Arg) rs863224616 0.00001
NM_000179.3(MSH6):c.1633A>G (p.Lys545Glu) rs1064793403 0.00001
NM_000179.3(MSH6):c.220G>T (p.Gly74Ter) rs1553408388 0.00001
NM_000179.3(MSH6):c.2300C>G (p.Thr767Ser) rs587781462 0.00001
NM_000179.3(MSH6):c.2419G>A (p.Glu807Lys) rs587779923 0.00001
NM_000179.3(MSH6):c.2515G>C (p.Asp839His) rs1553413868 0.00001
NM_000179.3(MSH6):c.2731C>T (p.Arg911Ter) rs63751017 0.00001
NM_000179.3(MSH6):c.2959A>G (p.Thr987Ala) rs746631156 0.00001
NM_000179.3(MSH6):c.3014G>A (p.Arg1005Gln) rs587782324 0.00001
NM_000179.3(MSH6):c.3103C>T (p.Arg1035Ter) rs63749999 0.00001
NM_000179.3(MSH6):c.3312T>A (p.Phe1104Leu) rs747441460 0.00001
NM_000179.3(MSH6):c.3586G>C (p.Glu1196Gln) rs75095286 0.00001
NM_000179.3(MSH6):c.3605T>C (p.Met1202Thr) rs587779273 0.00001
NM_000179.3(MSH6):c.3607C>A (p.His1203Asn) rs876660882 0.00001
NM_000179.3(MSH6):c.3742C>T (p.His1248Tyr) rs63750882 0.00001
NM_000179.3(MSH6):c.3801+1G>T rs876660943 0.00001
NM_000179.3(MSH6):c.3939_3957dup (p.Ala1320delinsSerLysGlyThrTer) rs63750767 0.00001
NM_000179.3(MSH6):c.4043A>C (p.Glu1348Ala) rs1449733937 0.00001
NM_000179.3(MSH6):c.651dup (p.Lys218Ter) rs63750955 0.00001
NM_000179.3(MSH6):c.905G>A (p.Arg302Lys) rs587781510 0.00001
GRCh37/hg19 2p16.3(chr2:48018016-48028344)x3
MSH6, 4-BP DEL, NT3609
NM_000179.3(MSH6):c.104C>T (p.Ala35Val) rs776547943
NM_000179.3(MSH6):c.1270G>A (p.Val424Ile) rs768299607
NM_000179.3(MSH6):c.1350_1351del (p.Phe451fs) rs878853702
NM_000179.3(MSH6):c.136G>C (p.Gly46Arg) rs863224616
NM_000179.3(MSH6):c.1438dup (p.Val480fs) rs1669331597
NM_000179.3(MSH6):c.1538T>C (p.Ile513Thr) rs1060502908
NM_000179.3(MSH6):c.1596dup (p.Glu533Ter) rs587779217
NM_000179.3(MSH6):c.184C>T (p.Arg62Cys) rs876659508
NM_000179.3(MSH6):c.2079del (p.Lys693fs) rs267608083
NM_000179.3(MSH6):c.2098C>A (p.Leu700Ile) rs587779230
NM_000179.3(MSH6):c.2105C>G (p.Ser702Ter) rs63751419
NM_000179.3(MSH6):c.2150_2153del (p.Val717fs) rs267608058
NM_000179.3(MSH6):c.2183A>G (p.Lys728Arg) rs35552856
NM_000179.3(MSH6):c.2230dup (p.Glu744fs) rs786201050
NM_000179.3(MSH6):c.2550C>G (p.Tyr850Ter) rs374230313
NM_000179.3(MSH6):c.2653A>T (p.Lys885Ter) rs587782593
NM_000179.3(MSH6):c.2668G>T (p.Val890Phe) rs786202628
NM_000179.3(MSH6):c.2684C>G (p.Thr895Arg) rs780081278
NM_000179.3(MSH6):c.2741C>T (p.Thr914Ile) rs1553414094
NM_000179.3(MSH6):c.3014G>T (p.Arg1005Leu) rs587782324
NM_000179.3(MSH6):c.3020G>A (p.Trp1007Ter) rs587779252
NM_000179.3(MSH6):c.3070C>T (p.Arg1024Trp) rs370505117
NM_000179.3(MSH6):c.3199_3213del (p.Ser1067_Asp1071del) rs1064792972
NM_000179.3(MSH6):c.3228C>T (p.Arg1076=) rs786203698
NM_000179.3(MSH6):c.322T>C (p.Cys108Arg) rs1668689651
NM_000179.3(MSH6):c.3251A>G (p.Asp1084Gly) rs1553331364
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.3260C>G (p.Pro1087Arg) 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.3341T>A (p.Leu1114Gln) rs1553331600
NM_000179.3(MSH6):c.3386_3388del (p.Cys1129_Val1130delinsLeu) rs587776705
NM_000179.3(MSH6):c.3439-1G>T rs587779263
NM_000179.3(MSH6):c.3450A>C (p.Leu1150Phe) rs762134820
NM_000179.3(MSH6):c.3557-4dup rs267608102
NM_000179.3(MSH6):c.3633dup (p.Val1212fs) rs587776706
NM_000179.3(MSH6):c.3685_3686insCCAA (p.Asn1229fs) rs2104538773
NM_000179.3(MSH6):c.3739A>G (p.Thr1247Ala) rs769360577
NM_000179.3(MSH6):c.3768T>G (p.Tyr1256Ter) rs63751058
NM_000179.3(MSH6):c.3832_3838dup (p.Gln1280fs) rs1572746382
NM_000179.3(MSH6):c.383G>T (p.Arg128Leu) rs63750143
NM_000179.3(MSH6):c.3919A>C (p.Asn1307His) rs730881808
NM_000179.3(MSH6):c.3991C>T (p.Arg1331Ter) rs267608094
NM_000179.3(MSH6):c.4001+2TAAC[2] rs267608132
NM_000179.3(MSH6):c.4001+2TAAC[4] rs267608132
NM_000179.3(MSH6):c.4029_4031dup (p.Thr1344dup) rs772655560
NM_000179.3(MSH6):c.4072A>G (p.Lys1358Glu) rs199739099
NM_000179.3(MSH6):c.4077_4080dup (p.Ter1361IleextTer?) rs575068534
NM_000179.3(MSH6):c.589G>C (p.Asp197His) rs148517241
NM_000179.3(MSH6):c.622A>G (p.Met208Val) rs369058374
NM_000179.3(MSH6):c.642C>G (p.Tyr214Ter) rs1800937
NM_000179.3(MSH6):c.806C>G (p.Thr269Ser) rs587779322

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