ClinVar Miner

List of variants in gene MLH1 reported as uncertain significance by International Society for Gastrointestinal Hereditary Tumours (InSiGHT)

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 270
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HGVS dbSNP
NM_000249.3(MLH1):c.(?_-198)_116+?dup
NM_000249.3(MLH1):c.*167T>A rs587778879
NM_000249.3(MLH1):c.*3A>G rs587778880
NM_000249.3(MLH1):c.-27C>A rs587779001
NM_000249.3(MLH1):c.-28A>G rs56198082
NM_000249.3(MLH1):c.-28A>T rs56198082
NM_000249.3(MLH1):c.-42C>T rs41285097
NM_000249.3(MLH1):c.-53G>T rs587779020
NM_000249.3(MLH1):c.-64G>T rs587779030
NM_000249.3(MLH1):c.-7C>T rs104894994
NM_000249.3(MLH1):c.1013A>G (p.Asn338Ser) rs63751467
NM_000249.3(MLH1):c.1038+19C>T rs267607818
NM_000249.3(MLH1):c.1058C>T (p.Ala353Val) rs63751265
NM_000249.3(MLH1):c.107T>A (p.Ile36Asn) rs267607707
NM_000249.3(MLH1):c.1090A>G (p.Thr364Ala) rs63749864
NM_000249.3(MLH1):c.109G>A (p.Glu37Lys) rs63751012
NM_000249.3(MLH1):c.112A>G (p.Asn38Asp) rs63750580
NM_000249.3(MLH1):c.1141C>T (p.His381Tyr) rs63750557
NM_000249.3(MLH1):c.1153C>T (p.Arg385Cys) rs63750760
NM_000249.3(MLH1):c.1154G>C (p.Arg385Pro) rs63750430
NM_000249.3(MLH1):c.115T>C (p.Cys39Arg) rs587778890
NM_000249.3(MLH1):c.116+56C>G rs587778891
NM_000249.3(MLH1):c.116+63T>G rs587778892
NM_000249.3(MLH1):c.1165C>T (p.Arg389Trp) rs61751644
NM_000249.3(MLH1):c.1166G>A (p.Arg389Gln) rs63750361
NM_000249.3(MLH1):c.116G>A (p.Cys39Tyr) rs63751701
NM_000249.3(MLH1):c.116G>T (p.Cys39Phe) rs63751701
NM_000249.3(MLH1):c.117-11T>A rs267607711
NM_000249.3(MLH1):c.117-?_306+?dup
NM_000249.3(MLH1):c.1178T>C (p.Leu393Pro) rs786203413
NM_000249.3(MLH1):c.1198C>G (p.Leu400Val) rs63751485
NM_000249.3(MLH1):c.1207C>T (p.Pro403Ser) rs587778897
NM_000249.3(MLH1):c.1246A>G (p.Lys416Glu) rs267607823
NM_000249.3(MLH1):c.1259C>G (p.Ser420Cys) rs63751179
NM_000249.3(MLH1):c.125C>T (p.Ala42Val) rs587778901
NM_000249.3(MLH1):c.1266C>T (p.Gly422=) rs63750791
NM_000249.3(MLH1):c.1297G>C (p.Glu433Gln) rs63750443
NM_000249.3(MLH1):c.1304C>T (p.Pro435Leu) rs63751414
NM_000249.3(MLH1):c.1327A>C (p.Lys443Gln) rs34213726
NM_000249.3(MLH1):c.133_139delinsTGTT (p.Thr45_Ile47delinsCysPhe) rs587778904
NM_000249.3(MLH1):c.1360G>C (p.Gly454Arg) rs63750527
NM_000249.3(MLH1):c.137G>T (p.Ser46Ile) rs63749833
NM_000249.3(MLH1):c.1392T>C (p.Pro464=) rs63750201
NM_000249.3(MLH1):c.1401C>T (p.Ser467=) rs587778910
NM_000249.3(MLH1):c.1402A>G (p.Asn468Asp) rs267607820
NM_000249.3(MLH1):c.1410-23G>T rs267607827
NM_000249.3(MLH1):c.1410-55G>T rs267607826
NM_000249.3(MLH1):c.1413G>A (p.Lys471=) rs63750616
NM_000249.3(MLH1):c.1415G>T (p.Arg472Ile) rs63750498
NM_000249.3(MLH1):c.1420C>T (p.Arg474Trp) rs147939838
NM_000249.3(MLH1):c.1421G>A (p.Arg474Gln) rs63751083
NM_000249.3(MLH1):c.1452T>C (p.Asp484=) rs587778916
NM_000249.3(MLH1):c.1453G>C (p.Asp485His) rs63750314
NM_000249.3(MLH1):c.1455T>A (p.Asp485Glu) rs63750956
NM_000249.3(MLH1):c.1460G>A (p.Arg487Gln) rs587778917
NM_000249.3(MLH1):c.1474G>A (p.Ala492Thr) rs63751145
NM_000249.3(MLH1):c.1487C>G (p.Pro496Arg) rs63750226
NM_000249.3(MLH1):c.1500_1502del (p.Ile501del) rs587778920
NM_000249.3(MLH1):c.1517T>C (p.Val506Ala) rs63749909
NM_000249.3(MLH1):c.1525C>T (p.Leu509Phe) rs267607829
NM_000249.3(MLH1):c.1558+11G>A rs267607833
NM_000249.3(MLH1):c.1558+13T>A rs267607834
NM_000249.3(MLH1):c.1558+58G>A rs267607838
NM_000249.3(MLH1):c.1559-3C>G rs267607830
NM_000249.3(MLH1):c.1565G>A (p.Arg522Gln) rs63751630
NM_000249.3(MLH1):c.1569G>T (p.Glu523Asp) rs63751680
NM_000249.3(MLH1):c.1612T>G (p.Trp538Gly) rs1559575214
NM_000249.3(MLH1):c.1616C>A (p.Ala539Asp) rs267607843
NM_000249.3(MLH1):c.1625A>C (p.Gln542Pro) rs63750511
NM_000249.3(MLH1):c.1625A>T (p.Gln542Leu) rs63750511
NM_000249.3(MLH1):c.1633A>G (p.Thr545Ala) rs267607840
NM_000249.3(MLH1):c.1646T>C (p.Leu549Pro) rs63750289
NM_000249.3(MLH1):c.1647_1649dup (p.Leu550dup) rs587778935
NM_000249.3(MLH1):c.1652A>C (p.Asn551Thr) rs63750271
NM_000249.3(MLH1):c.1655_1657CCA[1] (p.Thr553del) rs63751641
NM_000249.3(MLH1):c.1676T>G (p.Leu559Arg) rs63750059
NM_000249.3(MLH1):c.1681T>C (p.Tyr561His) rs267607847
NM_000249.3(MLH1):c.1693A>T (p.Ile565Phe) rs63750062
NM_000249.3(MLH1):c.1702T>A (p.Phe568Ile) rs267607848
NM_000249.3(MLH1):c.1711T>C (p.Phe571Leu) rs267607846
NM_000249.3(MLH1):c.1731+6T>G rs587778940
NM_000249.3(MLH1):c.1731G>C (p.Ser577=) rs63751657
NM_000249.3(MLH1):c.1732-5C>T rs587778941
NM_000249.3(MLH1):c.1743G>C (p.Pro581=) rs567838745
NM_000249.3(MLH1):c.1744C>G (p.Leu582Val) rs63751713
NM_000249.3(MLH1):c.1744C>T (p.Leu582Phe) rs63751713
NM_000249.3(MLH1):c.1754T>G (p.Leu585Arg) rs267607865
NM_000249.3(MLH1):c.1756G>C (p.Ala586Pro) rs63751176
NM_000249.3(MLH1):c.1757C>A (p.Ala586Asp) rs63750587
NM_000249.3(MLH1):c.1760T>C (p.Met587Thr) rs587778945
NM_000249.3(MLH1):c.1763T>C (p.Leu588Pro) rs63750575
NM_000249.3(MLH1):c.1802A>G (p.Asp601Gly) rs63750718
NM_000249.3(MLH1):c.1823C>A (p.Ala608Asp) rs267607864
NM_000249.3(MLH1):c.184C>A (p.Gln62Lys) rs63751428
NM_000249.3(MLH1):c.1852A>G (p.Lys618Glu) rs35001569
NM_000249.3(MLH1):c.1867G>T (p.Ala623Ser) rs587778951
NM_000249.3(MLH1):c.1877T>C (p.Phe626Ser) rs587778952
NM_000249.3(MLH1):c.1878C>T (p.Phe626=) rs63751214
NM_000249.3(MLH1):c.1879T>A (p.Ser627Thr) rs63750846
NM_000249.3(MLH1):c.187G>A (p.Asp63Asn) rs63750850
NM_000249.3(MLH1):c.1892A>C (p.Asp631Ala) rs63750240
NM_000249.3(MLH1):c.1896+36T>C rs267607870
NM_000249.3(MLH1):c.1897-17C>G rs2308316
NM_000249.3(MLH1):c.1904A>G (p.Asn635Ser) rs63751270
NM_000249.3(MLH1):c.1905C>G (p.Asn635Lys) rs63751047
NM_000249.3(MLH1):c.1907T>C (p.Leu636Pro) rs63750825
NM_000249.3(MLH1):c.1919C>T (p.Pro640Leu) rs267607875
NM_000249.3(MLH1):c.191A>G (p.Asn64Ser) rs63750952
NM_000249.3(MLH1):c.1934A>G (p.Asn645Ser) rs587778963
NM_000249.3(MLH1):c.1937A>G (p.Tyr646Cys) rs35045067
NM_000249.3(MLH1):c.1939G>A (p.Val647Met) rs63750109
NM_000249.3(MLH1):c.1964T>C (p.Ile655Thr) rs63751225
NM_000249.3(MLH1):c.1967T>C (p.Phe656Ser) rs267607876
NM_000249.3(MLH1):c.1976G>A (p.Arg659Gln) rs63749900
NM_000249.3(MLH1):c.1988A>C (p.Glu663Ala) rs63751682
NM_000249.3(MLH1):c.1988A>G (p.Glu663Gly) rs63751682
NM_000249.3(MLH1):c.1989+4A>G rs587778965
NM_000249.3(MLH1):c.1989+5G>C rs267607878
NM_000249.3(MLH1):c.1990-3C>G rs267607882
NM_000249.3(MLH1):c.1996T>C (p.Trp666Arg) rs267607887
NM_000249.3(MLH1):c.2001C>T (p.Asp667=) rs63750014
NM_000249.3(MLH1):c.2027T>C (p.Leu676Pro) rs63750242
NM_000249.3(MLH1):c.2027T>G (p.Leu676Arg) rs63750242
NM_000249.3(MLH1):c.2028C>T (p.Leu676=) rs587778969
NM_000249.3(MLH1):c.2030G>A (p.Ser677Asn) rs587778970
NM_000249.3(MLH1):c.2038T>G (p.Cys680Gly) rs63750809
NM_000249.3(MLH1):c.2040C>T (p.Cys680=) rs63749867
NM_000249.3(MLH1):c.2042C>T (p.Ala681Val) rs63750864
NM_000249.3(MLH1):c.2051A>G (p.Tyr684Cys) rs267607886
NM_000249.3(MLH1):c.208-15T>C rs587778974
NM_000249.3(MLH1):c.208-?_306+?dup rs1559511769
NM_000249.3(MLH1):c.2103+3A>G rs587778976
NM_000249.3(MLH1):c.2103G>A (p.Gln701=) rs63750603
NM_000249.3(MLH1):c.2104-11G>A rs147984696
NM_000249.3(MLH1):c.2104-11_2104-10delinsA rs587778977
NM_000249.3(MLH1):c.2104-22T>G rs267607890
NM_000249.3(MLH1):c.2104-7T>G rs267607891
NM_000249.3(MLH1):c.2104-?_*(193_?)dup
NM_000249.3(MLH1):c.2134T>A (p.Trp712Arg) rs267607909
NM_000249.3(MLH1):c.2155_2156insATGTGTTCCACA (p.Ile719_Val720insAsnValPheHis) rs281864940
NM_000249.3(MLH1):c.2159T>G (p.Val720Gly) rs587778985
NM_000249.3(MLH1):c.2161_2166dup (p.Tyr721_Lys722dup) rs63751075
NM_000249.3(MLH1):c.2162A>G (p.Tyr721Cys) rs587778986
NM_000249.3(MLH1):c.2170T>A (p.Leu724Met) rs63749875
NM_000249.3(MLH1):c.2173C>T (p.Arg725Cys) rs138584384
NM_000249.3(MLH1):c.2174G>A (p.Arg725His) rs566928243
NM_000249.3(MLH1):c.2185C>G (p.Leu729Val) rs1800149
NM_000249.3(MLH1):c.218T>C (p.Leu73Pro) rs397514684
NM_000249.3(MLH1):c.219G>A (p.Leu73=) rs587778988
NM_000249.3(MLH1):c.2210A>T (p.Asp737Val) rs267607885
NM_000249.3(MLH1):c.2224_2232del (p.Gln742_Ala744del) rs587778991
NM_000249.3(MLH1):c.2250C>A (p.Tyr750Ter) rs267607893
NM_000249.3(MLH1):c.2250C>G (p.Tyr750Ter) rs267607893
NM_000249.3(MLH1):c.2252_2253dup (p.Val752fs) rs267607901
NM_000249.3(MLH1):c.2258T>C (p.Phe753Ser) rs587778993
NM_000249.3(MLH1):c.2262del (p.Arg755fs) rs267607904
NM_000249.3(MLH1):c.2263A>T (p.Arg755Trp) rs267607900
NM_000249.3(MLH1):c.2265G>C (p.Arg755Ser) rs267607895
NM_000249.3(MLH1):c.2269T>A (p.Ter757Lys) rs587778995
NM_000249.3(MLH1):c.248G>T (p.Ser83Ile) rs587778999
NM_000249.3(MLH1):c.25C>T (p.Arg9Trp) rs587779000
NM_000249.3(MLH1):c.274G>C (p.Ala92Pro) rs63750133
NM_000249.3(MLH1):c.277A>G (p.Ser93Gly) rs41295282
NM_000249.3(MLH1):c.283T>G (p.Ser95Ala) rs63751070
NM_000249.3(MLH1):c.292G>A (p.Gly98Ser) rs267607725
NM_000249.3(MLH1):c.292G>C (p.Gly98Arg) rs267607725
NM_000249.3(MLH1):c.297T>A (p.Phe99Leu) rs267607730
NM_000249.3(MLH1):c.299G>A (p.Arg100Gln) rs63750266
NM_000249.3(MLH1):c.302G>T (p.Gly101Val) rs267607727
NM_000249.3(MLH1):c.306+3A>C rs267607731
NM_000249.3(MLH1):c.306+40G>A rs267607737
NM_000249.3(MLH1):c.306+4A>G rs267607733
NM_000249.3(MLH1):c.306+8A>G rs587779002
NM_000249.3(MLH1):c.306G>A (p.Glu102=) rs63751665
NM_000249.3(MLH1):c.307-?_380+?dup rs1559516997
NM_000249.3(MLH1):c.307G>C (p.Ala103Pro) rs587779003
NM_000249.3(MLH1):c.318C>A (p.Ser106Arg) rs63750297
NM_000249.3(MLH1):c.318C>G (p.Ser106Arg) rs63750297
NM_000249.3(MLH1):c.326A>C (p.His109Pro) rs587779004
NM_000249.3(MLH1):c.327T>G (p.His109Gln) rs63749803
NM_000249.3(MLH1):c.331G>C (p.Ala111Pro) rs587779005
NM_000249.3(MLH1):c.338T>A (p.Val113Asp) rs63750559
NM_000249.3(MLH1):c.347C>A (p.Thr116Lys) rs63750465
NM_000249.3(MLH1):c.347C>G (p.Thr116Arg) rs63750465
NM_000249.3(MLH1):c.359C>T (p.Ala120Val) rs267607740
NM_000249.3(MLH1):c.376T>A (p.Tyr126Asn) rs200076893
NM_000249.3(MLH1):c.377A>G (p.Tyr126Cys) rs267607741
NM_000249.3(MLH1):c.379A>C (p.Arg127=) rs587779007
NM_000249.3(MLH1):c.381-43C>G rs368847278
NM_000249.3(MLH1):c.388T>C (p.Tyr130His) rs587779010
NM_000249.3(MLH1):c.389A>G (p.Tyr130Cys) rs587779011
NM_000249.3(MLH1):c.403C>G (p.Leu135Val) rs63751052
NM_000249.3(MLH1):c.421C>G (p.Pro141Ala) rs63750977
NM_000249.3(MLH1):c.439G>C (p.Gly147Arg) rs267607747
NM_000249.3(MLH1):c.447G>C (p.Gln149His) rs63750638
NM_000249.3(MLH1):c.451_453del (p.Thr151del) rs587779016
NM_000249.3(MLH1):c.453+4A>G rs587779017
NM_000249.3(MLH1):c.453+9G>A rs267607752
NM_000249.3(MLH1):c.453G>A (p.Thr151=) rs369521379
NM_000249.3(MLH1):c.454-?_1409+?dup
NM_000249.3(MLH1):c.454-?_677+?dup
NM_000249.3(MLH1):c.479C>T (p.Ala160Val) rs63749924
NM_000249.3(MLH1):c.498A>C (p.Leu166Phe) rs267607757
NM_000249.3(MLH1):c.506C>T (p.Pro169Leu) rs63750834
NM_000249.3(MLH1):c.539T>G (p.Val180Gly) rs63750102
NM_000249.3(MLH1):c.545+72T>A rs267607763
NM_000249.3(MLH1):c.545+80T>A rs267607764
NM_000249.3(MLH1):c.558C>T (p.His186=) rs63751050
NM_000249.3(MLH1):c.572G>T (p.Ser191Ile) rs267607766
NM_000249.3(MLH1):c.577T>C (p.Ser193Pro) rs63751021
NM_000249.3(MLH1):c.588+3_588+6del rs267607769
NM_000249.3(MLH1):c.588+49_588+50del rs587779025
NM_000249.3(MLH1):c.588+5G>C rs267607768
NM_000249.3(MLH1):c.589-10T>A rs267607770
NM_000249.3(MLH1):c.589-7_589-4del rs587779028
NM_000249.3(MLH1):c.589-9_589-6delGTTT rs587779026
NM_000249.3(MLH1):c.595G>C (p.Glu199Gln) rs63749887
NM_000249.3(MLH1):c.637G>T (p.Val213Leu) rs2308317
NM_000249.3(MLH1):c.644A>G (p.Asn215Ser) rs267607775
NM_000249.3(MLH1):c.647T>G (p.Ile216Ser) rs267607776
NM_000249.3(MLH1):c.649C>T (p.Arg217Cys) rs4986984
NM_000249.3(MLH1):c.677+3A>C rs267607780
NM_000249.3(MLH1):c.677+5G>A rs587779034
NM_000249.3(MLH1):c.678-3T>A rs267607785
NM_000249.3(MLH1):c.678-4A>G rs766711342
NM_000249.3(MLH1):c.67G>A (p.Glu23Lys) rs63750823
NM_000249.3(MLH1):c.69A>T (p.Glu23Asp) rs63750555
NM_000249.3(MLH1):c.701A>G (p.Glu234Gly) rs63750696
NM_000249.3(MLH1):c.731G>T (p.Gly244Val) rs63750303
NM_000249.3(MLH1):c.74T>C (p.Ile25Thr) rs63750514
NM_000249.3(MLH1):c.778C>T (p.Leu260Phe) rs63750642
NM_000249.3(MLH1):c.780C>G (p.Leu260=) rs587779038
NM_000249.3(MLH1):c.788A>C (p.Asn263Thr) rs104894997
NM_000249.3(MLH1):c.790+3A>T rs267607792
NM_000249.3(MLH1):c.790+4A>G rs267607786
NM_000249.3(MLH1):c.790+62G>A rs267607796
NM_000249.3(MLH1):c.790C>T (p.His264Tyr) rs63751597
NM_000249.3(MLH1):c.791A>G (p.His264Arg) rs63751664
NM_000249.3(MLH1):c.794G>A (p.Arg265His) rs63751448
NM_000249.3(MLH1):c.799_800delinsAG (p.Val267Arg) rs1085308058
NM_000249.3(MLH1):c.80G>C (p.Arg27Pro) rs138705565
NM_000249.3(MLH1):c.814T>G (p.Leu272Val) rs63751252
NM_000249.3(MLH1):c.838T>G (p.Tyr280Asp) rs587779044
NM_000249.3(MLH1):c.856A>C (p.Lys286Gln) rs63750395
NM_000249.3(MLH1):c.85G>T (p.Ala29Ser) rs63750656
NM_000249.3(MLH1):c.861C>T (p.Asn287=) rs63750421
NM_000249.3(MLH1):c.875T>C (p.Leu292Pro) rs63750517
NM_000249.3(MLH1):c.877T>G (p.Tyr293Asp) rs587779049
NM_000249.3(MLH1):c.882C>G (p.Leu294=) rs63751707
NM_000249.3(MLH1):c.884+15A>G rs372817491
NM_000249.3(MLH1):c.884+39G>A rs370283452
NM_000249.3(MLH1):c.884+3A>G rs267607803
NM_000249.3(MLH1):c.885-9_887dup rs1553647888
NM_000249.3(MLH1):c.889G>A (p.Glu297Lys) rs63750736
NM_000249.3(MLH1):c.908T>A (p.Val303Glu) rs267607813
NM_000249.3(MLH1):c.911A>G (p.Asp304Gly) rs63750993
NM_000249.3(MLH1):c.914_937del (p.Val305_His312del) rs587779053
NM_000249.3(MLH1):c.91_92delinsTG (p.Ala31Cys) rs63749994
NM_000249.3(MLH1):c.925C>T (p.Pro309Ser) rs267607808
NM_000249.3(MLH1):c.927C>T (p.Pro309=) rs63749896
NM_000249.3(MLH1):c.930A>C (p.Thr310=) rs587779056
NM_000249.3(MLH1):c.949C>A (p.Leu317Met) rs267607814
NM_000249.3(MLH1):c.94A>G (p.Ile32Val) rs2020872
NM_000249.3(MLH1):c.955G>A (p.Glu319Lys) rs63750796
NM_000249.3(MLH1):c.960G>C (p.Glu320Asp) rs267607811
NM_000249.3(MLH1):c.962G>T (p.Ser321Ile) rs63750286
NM_000249.3(MLH1):c.974_982del (p.Arg325_Gln327del) rs587779057
NM_000249.3(MLH1):c.985C>A (p.His329Asn) rs267607810
NM_001167617.2(MLH1):c.1695+7dup rs267607880
NM_001167617.2(MLH1):c.383+4dup rs267607781

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