ClinVar Miner

List of variants in gene MLH1 reported as uncertain significance for not specified

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 238
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HGVS dbSNP gnomAD frequency
NM_000249.4(MLH1):c.1732-19T>A rs77120160 0.00923
NM_000249.4(MLH1):c.1852A>G (p.Lys618Glu) rs35001569 0.00399
NM_000249.4(MLH1):c.-7C>T rs104894994 0.00115
NM_000249.4(MLH1):c.-28A>G rs56198082 0.00110
NM_000249.4(MLH1):c.1217G>A (p.Ser406Asn) rs41294980 0.00087
NM_000249.4(MLH1):c.1321G>A (p.Ala441Thr) rs63750365 0.00034
NM_000249.4(MLH1):c.2066A>G (p.Gln689Arg) rs63750702 0.00022
NM_000249.4(MLH1):c.1166G>A (p.Arg389Gln) rs63750361 0.00020
NM_000249.4(MLH1):c.394G>C (p.Asp132His) rs28930073 0.00019
NM_000249.4(MLH1):c.1040C>A (p.Thr347Asn) rs201541505 0.00017
NM_000249.4(MLH1):c.65G>C (p.Gly22Ala) rs41295280 0.00016
NM_000249.4(MLH1):c.1820T>A (p.Leu607His) rs41295284 0.00015
NM_000249.4(MLH1):c.803A>G (p.Glu268Gly) rs63750650 0.00014
NM_000249.4(MLH1):c.626A>G (p.Asn209Ser) rs150478207 0.00011
NM_000249.4(MLH1):c.1964T>C (p.Ile655Thr) rs63751225 0.00010
NM_000249.3(MLH1):c.-42C>T rs41285097 0.00009
NM_000249.4(MLH1):c.1558+5G>A rs199935667 0.00008
NM_000249.4(MLH1):c.1742C>T (p.Pro581Leu) rs63751684 0.00008
NM_000249.4(MLH1):c.*4T>C rs750794400 0.00007
NM_000249.4(MLH1):c.117-10G>A rs576724240 0.00007
NM_000249.4(MLH1):c.1379A>C (p.Glu460Ala) rs202038499 0.00007
NM_000249.4(MLH1):c.2038T>G (p.Cys680Gly) rs63750809 0.00007
NM_000249.4(MLH1):c.2213G>A (p.Gly738Glu) rs148317871 0.00007
NM_000249.4(MLH1):c.1013A>G (p.Asn338Ser) rs63751467 0.00006
NM_000249.4(MLH1):c.1360G>C (p.Gly454Arg) rs63750527 0.00006
NM_000249.4(MLH1):c.1733A>G (p.Glu578Gly) rs63751612 0.00006
NM_000249.4(MLH1):c.207+12C>T rs121909450 0.00006
NM_000249.4(MLH1):c.2174G>A (p.Arg725His) rs566928243 0.00006
NM_000249.4(MLH1):c.242C>T (p.Thr81Ile) rs63751069 0.00006
NM_000249.4(MLH1):c.453G>A (p.Thr151=) rs369521379 0.00006
NM_000249.4(MLH1):c.955G>A (p.Glu319Lys) rs63750796 0.00006
NM_000249.4(MLH1):c.1153C>T (p.Arg385Cys) rs63750760 0.00005
NM_000249.4(MLH1):c.1154G>A (p.Arg385His) rs63750430 0.00005
NM_000249.4(MLH1):c.1937A>G (p.Tyr646Cys) rs35045067 0.00005
NM_000249.4(MLH1):c.438A>G (p.Gln146=) rs377279035 0.00005
NM_000249.4(MLH1):c.1148T>C (p.Met383Thr) rs141344760 0.00004
NM_000249.4(MLH1):c.1270G>A (p.Ala424Thr) rs377433038 0.00004
NM_000249.4(MLH1):c.1474G>A (p.Ala492Thr) rs63751145 0.00004
NM_000249.4(MLH1):c.1565G>A (p.Arg522Gln) rs63751630 0.00004
NM_000249.4(MLH1):c.1633A>G (p.Thr545Ala) rs267607840 0.00004
NM_000249.4(MLH1):c.299G>A (p.Arg100Gln) rs63750266 0.00004
NM_000249.4(MLH1):c.347C>A (p.Thr116Lys) rs63750465 0.00004
NM_000249.4(MLH1):c.52C>T (p.Arg18Cys) rs367654552 0.00004
NM_000249.4(MLH1):c.794G>A (p.Arg265His) rs63751448 0.00004
NM_000249.4(MLH1):c.808A>G (p.Thr270Ala) rs371302926 0.00004
NM_000249.4(MLH1):c.945C>G (p.His315Gln) rs587779959 0.00004
NM_000249.4(MLH1):c.9C>G (p.Phe3Leu) rs779759678 0.00004
NM_000249.4(MLH1):c.116+5G>A rs267607710 0.00003
NM_000249.4(MLH1):c.1165C>T (p.Arg389Trp) rs61751644 0.00003
NM_000249.4(MLH1):c.1487C>T (p.Pro496Leu) rs63750226 0.00003
NM_000249.4(MLH1):c.1514G>A (p.Ser505Asn) rs771044689 0.00003
NM_000249.4(MLH1):c.1562T>A (p.Leu521His) rs1258738224 0.00003
NM_000249.4(MLH1):c.1730C>T (p.Ser577Leu) rs56185292 0.00003
NM_000249.4(MLH1):c.1976G>A (p.Arg659Gln) rs63749900 0.00003
NM_000249.4(MLH1):c.453+20G>T rs759417195 0.00003
NM_000249.4(MLH1):c.539T>G (p.Val180Gly) rs63750102 0.00003
NM_000249.4(MLH1):c.644A>G (p.Asn215Ser) rs267607775 0.00003
NM_000249.4(MLH1):c.991G>A (p.Glu331Lys) rs550914672 0.00003
NM_000249.4(MLH1):c.1890T>G (p.Ile630Met) rs774878438 0.00002
NM_000249.4(MLH1):c.226G>A (p.Val76Ile) rs878853788 0.00002
NM_000249.4(MLH1):c.595G>C (p.Glu199Gln) rs63749887 0.00002
NM_000249.4(MLH1):c.776T>C (p.Leu259Ser) rs56250509 0.00002
NM_000249.4(MLH1):c.790C>T (p.His264Tyr) rs63751597 0.00002
NM_000249.4(MLH1):c.928A>G (p.Thr310Ala) rs779581111 0.00002
NM_000249.4(MLH1):c.974G>A (p.Arg325Gln) rs63750268 0.00002
NM_000249.4(MLH1):c.*3A>G rs587778880 0.00001
NM_000249.4(MLH1):c.1007G>A (p.Gly336Asp) rs587781750 0.00001
NM_000249.4(MLH1):c.1043T>C (p.Leu348Ser) rs755401753 0.00001
NM_000249.4(MLH1):c.1060G>A (p.Gly354Ser) rs752962453 0.00001
NM_000249.4(MLH1):c.1063C>T (p.Pro355Ser) rs756347993 0.00001
NM_000249.4(MLH1):c.1064C>T (p.Pro355Leu) rs587782467 0.00001
NM_000249.4(MLH1):c.116+8G>A rs904872305 0.00001
NM_000249.4(MLH1):c.1202G>A (p.Ser401Asn) rs587779951 0.00001
NM_000249.4(MLH1):c.1245T>G (p.Asp415Glu) rs750563193 0.00001
NM_000249.4(MLH1):c.1277A>T (p.Gln426Leu) rs876659252 0.00001
NM_000249.4(MLH1):c.1421G>A (p.Arg474Gln) rs63751083 0.00001
NM_000249.4(MLH1):c.1451A>G (p.Asp484Gly) rs876659795 0.00001
NM_000249.4(MLH1):c.1490G>A (p.Arg497Gln) rs754554026 0.00001
NM_000249.4(MLH1):c.1500C>G (p.Ile500Met) rs887474856 0.00001
NM_000249.4(MLH1):c.1538T>C (p.Ile513Thr) rs876658689 0.00001
NM_000249.4(MLH1):c.1558+10C>T rs765913871 0.00001
NM_000249.4(MLH1):c.1558+4C>T rs531873434 0.00001
NM_000249.4(MLH1):c.1637A>G (p.Lys546Arg) rs587779954 0.00001
NM_000249.4(MLH1):c.1667G>C (p.Ser556Thr) rs63751596 0.00001
NM_000249.4(MLH1):c.1682A>G (p.Tyr561Cys) rs1289807424 0.00001
NM_000249.4(MLH1):c.1731+8T>C rs370108219 0.00001
NM_000249.4(MLH1):c.1744C>G (p.Leu582Val) rs63751713 0.00001
NM_000249.4(MLH1):c.1834G>A (p.Val612Ile) rs587779956 0.00001
NM_000249.4(MLH1):c.1876T>C (p.Phe626Leu) rs377241633 0.00001
NM_000249.4(MLH1):c.1896+7C>T rs863224339 0.00001
NM_000249.4(MLH1):c.2161T>C (p.Tyr721His) rs1453792999 0.00001
NM_000249.4(MLH1):c.2162A>G (p.Tyr721Cys) rs587778986 0.00001
NM_000249.4(MLH1):c.306+4A>G rs267607733 0.00001
NM_000249.4(MLH1):c.306G>A (p.Glu102=) rs63751665 0.00001
NM_000249.4(MLH1):c.359C>G (p.Ala120Gly) rs267607740 0.00001
NM_000249.4(MLH1):c.454-10T>G rs1260098414 0.00001
NM_000249.4(MLH1):c.454-6G>A rs781238673 0.00001
NM_000249.4(MLH1):c.541G>A (p.Gly181Ser) rs1064795694 0.00001
NM_000249.4(MLH1):c.5C>T (p.Ser2Leu) rs587779029 0.00001
NM_000249.4(MLH1):c.622C>T (p.Pro208Ser) rs587781509 0.00001
NM_000249.4(MLH1):c.652T>C (p.Ser218Pro) rs750650349 0.00001
NM_000249.4(MLH1):c.677+7C>G rs556224377 0.00001
NM_000249.4(MLH1):c.677+9A>G rs1060500696 0.00001
NM_000249.4(MLH1):c.682C>A (p.Leu228Met) rs751628735 0.00001
NM_000249.4(MLH1):c.704A>T (p.Asp235Val) rs587781505 0.00001
NM_000249.4(MLH1):c.739T>G (p.Ser247Ala) rs63750948 0.00001
NM_000249.4(MLH1):c.743A>G (p.Asn248Ser) rs587782800 0.00001
NM_000249.4(MLH1):c.786C>G (p.Ile262Met) rs748553134 0.00001
NM_000249.4(MLH1):c.79C>T (p.Arg27Trp) rs756398627 0.00001
NM_000249.4(MLH1):c.848A>G (p.Tyr283Cys) rs201931669 0.00001
NM_000249.4(MLH1):c.863C>T (p.Thr288Ile) rs786203878 0.00001
NM_000249.4(MLH1):c.887T>C (p.Leu296Ser) rs63750547 0.00001
NM_000249.4(MLH1):c.943C>T (p.His315Tyr) rs151119913 0.00001
NC_000003.11:g.(37089175_37090007)_(37090509_37091976)dup
NM_000249.4(MLH1):c.*6del
NM_000249.4(MLH1):c.-5C>T rs868796932
NM_000249.4(MLH1):c.-7C>A rs104894994
NM_000249.4(MLH1):c.1016C>T (p.Ser339Phe) rs2125854561
NM_000249.4(MLH1):c.104T>A (p.Met35Lys) rs63749906
NM_000249.4(MLH1):c.1072G>A (p.Glu358Lys) rs1553650621
NM_000249.4(MLH1):c.1078G>T (p.Val360Phe) rs878853775
NM_000249.4(MLH1):c.1081A>G (p.Lys361Glu) rs786201875
NM_000249.4(MLH1):c.1088CAA[1] (p.Thr364del) rs876660192
NM_000249.4(MLH1):c.110A>G (p.Glu37Gly) rs876658410
NM_000249.4(MLH1):c.1117G>A (p.Gly373Arg) rs766904735
NM_000249.4(MLH1):c.1122T>G (p.Ser374Arg) rs759868546
NM_000249.4(MLH1):c.1136A>T (p.Tyr379Phe) rs143009528
NM_000249.4(MLH1):c.1172A>G (p.Gln391Arg) rs587782884
NM_000249.4(MLH1):c.117T>G (p.Cys39Trp) rs1305605404
NM_000249.4(MLH1):c.1225C>G (p.Gln409Glu) rs63751153
NM_000249.4(MLH1):c.125C>T (p.Ala42Val) rs587778901
NM_000249.4(MLH1):c.1268G>A (p.Arg423Lys) rs370687064
NM_000249.4(MLH1):c.1284T>G (p.Asp428Glu)
NM_000249.4(MLH1):c.1410-3C>G rs2083690867
NM_000249.4(MLH1):c.1420C>G (p.Arg474Gly) rs147939838
NM_000249.4(MLH1):c.1443G>A (p.Met481Ile) rs1559558400
NM_000249.4(MLH1):c.1466A>C (p.Glu489Ala) rs1553652986
NM_000249.4(MLH1):c.1486C>T (p.Pro496Ser) rs2083708398
NM_000249.4(MLH1):c.1487C>G (p.Pro496Arg) rs63750226
NM_000249.4(MLH1):c.1489C>G (p.Arg497Gly) rs200830026
NM_000249.4(MLH1):c.1501A>G (p.Ile501Val) rs748613173
NM_000249.4(MLH1):c.1524T>G (p.Ser508Arg) rs886058383
NM_000249.4(MLH1):c.1559-11T>C rs730881750
NM_000249.4(MLH1):c.1572G>C (p.Met524Ile) rs587779953
NM_000249.4(MLH1):c.1572G>T (p.Met524Ile) rs587779953
NM_000249.4(MLH1):c.1606C>T (p.Pro536Ser)
NM_000249.4(MLH1):c.1616C>A (p.Ala539Asp) rs267607843
NM_000249.4(MLH1):c.1655CCA[1] (p.Thr553del) rs63751641
NM_000249.4(MLH1):c.1657A>G (p.Thr553Ala) rs1559575796
NM_000249.4(MLH1):c.1668-139dup rs863225375
NM_000249.4(MLH1):c.1690C>T (p.Leu564Phe) rs786202693
NM_000249.4(MLH1):c.1706C>T (p.Ala569Val) rs1559578814
NM_000249.4(MLH1):c.1714G>A (p.Gly572Ser) rs587781796
NM_000249.4(MLH1):c.1744C>T (p.Leu582Phe) rs63751713
NM_000249.4(MLH1):c.1757C>A (p.Ala586Asp) rs63750587
NM_000249.4(MLH1):c.1766C>T (p.Ala589Val) rs63750016
NM_000249.4(MLH1):c.1775G>A (p.Ser592Asn) rs587782621
NM_000249.4(MLH1):c.1832TTG[1] (p.Val612del) rs63750486
NM_000249.4(MLH1):c.1839G>T (p.Glu613Asp) rs876658919
NM_000249.4(MLH1):c.1852_1853delinsGC (p.Lys618Ala) rs35502531
NM_000249.4(MLH1):c.1853A>C (p.Lys618Thr) rs63750449
NM_000249.4(MLH1):c.1873T>C (p.Tyr625His) rs1413395234
NM_000249.4(MLH1):c.1874A>G (p.Tyr625Cys) rs748851107
NM_000249.4(MLH1):c.188A>G (p.Asp63Gly) rs1064795693
NM_000249.4(MLH1):c.1897-2A>G rs267607871
NM_000249.4(MLH1):c.1918C>A (p.Pro640Thr) rs63749792
NM_000249.4(MLH1):c.1918C>G (p.Pro640Ala) rs63749792
NM_000249.4(MLH1):c.1924C>G (p.Leu642Val) rs577217817
NM_000249.4(MLH1):c.1936T>C (p.Tyr646His) rs1553663884
NM_000249.4(MLH1):c.194G>T (p.Gly65Val) rs63751465
NM_000249.4(MLH1):c.1984A>C (p.Thr662Pro) rs587778964
NM_000249.4(MLH1):c.1985C>T (p.Thr662Ile) rs1559591605
NM_000249.4(MLH1):c.1989+5G>T rs267607878
NM_000249.4(MLH1):c.1993A>T (p.Asn665Tyr)
NM_000249.4(MLH1):c.2024G>C (p.Ser675Thr) rs781637991
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr) rs63750217
NM_000249.4(MLH1):c.2048T>C (p.Phe683Ser) rs587778972
NM_000249.4(MLH1):c.2074T>C (p.Ser692Pro) rs587779957
NM_000249.4(MLH1):c.2080_2081inv (p.Glu694Ser)
NM_000249.4(MLH1):c.2084C>G (p.Ser695Trp) rs63749995
NM_000249.4(MLH1):c.2084C>T (p.Ser695Leu) rs63749995
NM_000249.4(MLH1):c.2103G>T (p.Gln701His) rs63750603
NM_000249.4(MLH1):c.2105G>C (p.Ser702Thr) rs973343336
NM_000249.4(MLH1):c.210A>G (p.Lys70=) rs63751191
NM_000249.4(MLH1):c.2110G>A (p.Val704Met) rs587781811
NM_000249.4(MLH1):c.2110G>C (p.Val704Leu) rs587781811
NM_000249.4(MLH1):c.2172_2173delinsAG (p.Arg725Gly) rs786203433
NM_000249.4(MLH1):c.2173C>T (p.Arg725Cys) rs138584384
NM_000249.4(MLH1):c.2173_2174delinsTT
NM_000249.4(MLH1):c.2191C>T (p.Pro731Ser) rs876661188
NM_000249.4(MLH1):c.2239C>T (p.Pro747Ser) rs587779958
NM_000249.4(MLH1):c.240C>T (p.Phe80=) rs1553640218
NM_000249.4(MLH1):c.242C>G (p.Thr81Ser) rs63751069
NM_000249.4(MLH1):c.253C>G (p.Leu85Val) rs63750659
NM_000249.4(MLH1):c.25C>T (p.Arg9Trp) rs587779000
NM_000249.4(MLH1):c.28C>G (p.Arg10Gly) rs1193754562
NM_000249.4(MLH1):c.28C>T (p.Arg10Trp) rs1193754562
NM_000249.4(MLH1):c.292_293del (p.Gly98fs) rs876661077
NM_000249.4(MLH1):c.293G>A (p.Gly98Asp) rs863225382
NM_000249.4(MLH1):c.299G>T (p.Arg100Leu) rs63750266
NM_000249.4(MLH1):c.301G>A (p.Gly101Ser) rs267607726
NM_000249.4(MLH1):c.302G>T (p.Gly101Val) rs267607727
NM_000249.4(MLH1):c.304G>A (p.Glu102Lys) rs63750453
NM_000249.4(MLH1):c.314C>T (p.Ala105Val) rs867655979
NM_000249.4(MLH1):c.367A>G (p.Lys123Glu) rs63750542
NM_000249.4(MLH1):c.36C>G (p.Asp12Glu) rs587782181
NM_000249.4(MLH1):c.374C>A (p.Ala125Glu) rs1553641362
NM_000249.4(MLH1):c.379A>C (p.Arg127=) rs587779007
NM_000249.4(MLH1):c.37G>A (p.Glu13Lys) rs587779008
NM_000249.4(MLH1):c.37G>C (p.Glu13Gln) rs587779008
NM_000249.4(MLH1):c.380+10T>C rs1553641403
NM_000249.4(MLH1):c.424T>C (p.Cys142Arg) rs780232692
NM_000249.4(MLH1):c.453G>T (p.Thr151=) rs369521379
NM_000249.4(MLH1):c.457G>A (p.Glu153Lys) rs1553642660
NM_000249.4(MLH1):c.46G>C (p.Val16Leu) rs776643257
NM_000249.4(MLH1):c.479C>T (p.Ala160Val) rs63749924
NM_000249.4(MLH1):c.489A>G (p.Arg163=) rs2125784050
NM_000249.4(MLH1):c.588+7T>C rs1553644066
NM_000249.4(MLH1):c.589-9_589-6del rs587779026
NM_000249.4(MLH1):c.59C>T (p.Ala20Val) rs1391455682
NM_000249.4(MLH1):c.617C>T (p.Thr206Ile) rs2082346831
NM_000249.4(MLH1):c.626A>C (p.Asn209Thr) rs150478207
NM_000249.4(MLH1):c.677+26dup rs755619350
NM_000249.4(MLH1):c.694G>A (p.Gly232Arg) rs1553645131
NM_000249.4(MLH1):c.696_698del (p.Cys233del) rs1575480253
NM_000249.4(MLH1):c.754T>C (p.Ser252Pro) rs876661260
NM_000249.4(MLH1):c.767G>A (p.Cys256Tyr) rs876659662
NM_000249.4(MLH1):c.790C>G (p.His264Asp) rs63751597
NM_000249.4(MLH1):c.791-49_791-45del rs1559538882
NM_000249.4(MLH1):c.793C>G (p.Arg265Gly) rs63751194
NM_000249.4(MLH1):c.830A>G (p.Glu277Gly)
NM_000249.4(MLH1):c.85G>T (p.Ala29Ser) rs63750656
NM_000249.4(MLH1):c.884+9G>C rs1559539862
NM_000249.4(MLH1):c.885-8C>T rs762836160
NM_000249.4(MLH1):c.911A>G (p.Asp304Gly) rs63750993
NM_000249.4(MLH1):c.91_92delinsTG
NM_000249.4(MLH1):c.92C>T (p.Ala31Val) rs730882127
NM_000249.4(MLH1):c.931A>G (p.Lys311Glu) rs876658657

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