ClinVar Miner

List of variants in gene MSH6 reported by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Gene type:
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Total variants: 84
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HGVS dbSNP gnomAD frequency
NM_000179.3(MSH6):c.3438+14A>T rs2020911 0.32279
NM_000179.3(MSH6):c.457+52T>A rs3136282 0.29585
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.642C>T (p.Tyr214=) rs1800937 0.07457
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.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.1345C>T (p.Leu449=) rs3136333 0.00429
NM_000179.3(MSH6):c.3801+17T>C rs3136365 0.00159
NM_000179.3(MSH6):c.3647-6T>A rs182871847 0.00134
NM_000179.3(MSH6):c.984C>T (p.Ser328=) rs138143769 0.00101
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.3438+11_3438+14del rs377746844 0.00023
NM_000179.3(MSH6):c.2398G>C (p.Val800Leu) rs61748083 0.00014
NM_000179.3(MSH6):c.628-7C>A rs373129248 0.00011
NM_000179.3(MSH6):c.3245C>T (p.Pro1082Leu) rs191109849 0.00010
NM_000179.3(MSH6):c.3727A>T (p.Thr1243Ser) rs147453999 0.00009
NM_000179.3(MSH6):c.2281A>G (p.Arg761Gly) rs199876321 0.00008
NM_000179.3(MSH6):c.2314C>A (p.Arg772=) rs63750138 0.00007
NM_000179.3(MSH6):c.3399T>C (p.Thr1133=) rs61748084 0.00005
NM_000179.3(MSH6):c.3729A>G (p.Thr1243=) rs773807182 0.00004
NM_000179.3(MSH6):c.-8C>T rs565211544 0.00003
NM_000179.3(MSH6):c.2664G>C (p.Lys888Asn) rs730881798 0.00002
NM_000179.3(MSH6):c.2950A>C (p.Asn984His) rs146359682 0.00002
NM_000179.3(MSH6):c.3202C>T (p.Arg1068Ter) rs63749843 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.1061G>T (p.Gly354Val) rs730881788 0.00001
NM_000179.3(MSH6):c.1524G>A (p.Val508=) rs878853705 0.00001
NM_000179.3(MSH6):c.2629G>A (p.Glu877Lys) rs730881797 0.00001
NM_000179.3(MSH6):c.2653A>G (p.Lys885Glu) rs587782593 0.00001
NM_000179.3(MSH6):c.2731C>T (p.Arg911Ter) rs63751017 0.00001
NM_000179.3(MSH6):c.2940A>G (p.Glu980=) rs730881818 0.00001
NM_000179.3(MSH6):c.3084A>T (p.Ser1028=) rs786201843 0.00001
NM_000179.3(MSH6):c.3233T>C (p.Val1078Ala) rs376452612 0.00001
NM_000179.3(MSH6):c.3339T>G (p.Ile1113Met) rs786202044 0.00001
NM_000179.3(MSH6):c.3939_3957dup (p.Ala1320delinsSerLysGlyThrTer) rs63750767 0.00001
NM_000179.3(MSH6):c.628-2A>G rs1114167725 0.00001
NM_000179.3(MSH6):c.81C>G (p.Ala27=) rs781496151 0.00001
NM_000179.3(MSH6):c.958C>A (p.Pro320Thr) rs754879198 0.00001
NM_000179.3(MSH6):c.1045C>T (p.Gln349Ter) rs863224473
NM_000179.3(MSH6):c.1241G>A (p.Trp414Ter) rs587779914
NM_000179.3(MSH6):c.1392del (p.Ile464fs) rs2104340974
NM_000179.3(MSH6):c.1590del (p.Ser532fs) rs587779216
NM_000179.3(MSH6):c.1795G>C (p.Gly599Arg) rs756043669
NM_000179.3(MSH6):c.1795G>T (p.Gly599Ter) rs756043669
NM_000179.3(MSH6):c.2150_2153del (p.Val717fs) rs267608058
NM_000179.3(MSH6):c.2161A>C (p.Arg721=) rs537604099
NM_000179.3(MSH6):c.2230dup (p.Glu744fs) rs786201050
NM_000179.3(MSH6):c.2281_2282del (p.Arg761fs) rs1114167721
NM_000179.3(MSH6):c.2292T>C (p.Thr764=) rs1553413668
NM_000179.3(MSH6):c.2383A>G (p.Ile795Val) rs865931684
NM_000179.3(MSH6):c.2429del (p.Glu810fs) rs1572727176
NM_000179.3(MSH6):c.261-14C>T rs369366445
NM_000179.3(MSH6):c.2832_2833del (p.Ile944fs) rs730881827
NM_000179.3(MSH6):c.3037_3041del (p.Lys1013fs) rs587782712
NM_000179.3(MSH6):c.3162C>T (p.Ile1054=) rs149605979
NM_000179.3(MSH6):c.3173-18T>A rs189672273
NM_000179.3(MSH6):c.3173-1G>C rs397515875
NM_000179.3(MSH6):c.3246G>T (p.Pro1082=) rs3136351
NM_000179.3(MSH6):c.3261del (p.Phe1088fs) rs267608078
NM_000179.3(MSH6):c.3270G>C (p.Glu1090Asp) rs876660165
NM_000179.3(MSH6):c.3438+5C>G rs777420424
NM_000179.3(MSH6):c.3439-2A>G rs267608098
NM_000179.3(MSH6):c.3478G>T (p.Val1160Phe) rs376799914
NM_000179.3(MSH6):c.3586G>T (p.Glu1196Ter) rs75095286
NM_000179.3(MSH6):c.3725G>A (p.Arg1242His) rs63750119
NM_000179.3(MSH6):c.3729ATT[1] (p.Leu1244del) rs876658650
NM_000179.3(MSH6):c.3984_3987dup (p.Leu1330fs) rs267608121
NM_000179.3(MSH6):c.4001+2T>A rs267608131
NM_000179.3(MSH6):c.4001+2TAAC[2] rs267608132
NM_000179.3(MSH6):c.741del (p.Lys247fs) rs267608041

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