ClinVar Miner

List of variants in gene MLH1 reported as likely pathogenic for Hereditary cancer-predisposing syndrome

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Total variants: 274
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HGVS dbSNP gnomAD frequency
NM_000249.4(MLH1):c.1517T>C (p.Val506Ala) rs63749909 0.00001
NM_000249.4(MLH1):c.1667G>C (p.Ser556Thr) rs63751596 0.00001
NM_000249.4(MLH1):c.207+1G>A rs267607718 0.00001
NM_000249.4(MLH1):c.244A>G (p.Thr82Ala) rs587778998 0.00001
NM_000249.4(MLH1):c.492A>C (p.Lys164Asn) rs765014361 0.00001
NM_000249.3(MLH1):c.2104_2105delAG rs63751651
NM_000249.3:c.(1667+1_1668-1)_(1731+1_1732-1)dup
NM_000249.3:c.(545+1_546-1)_(1558+1_1559-1)dup
NM_000249.4(MLH1):c.-15_28del (p.Met1fs) rs2125693080
NM_000249.4(MLH1):c.-27C>A rs587779001
NM_000249.4(MLH1):c.1024_1038+1del rs1553648201
NM_000249.4(MLH1):c.1038+2T>A
NM_000249.4(MLH1):c.1038+2T>C
NM_000249.4(MLH1):c.1039-2A>T rs267607815
NM_000249.4(MLH1):c.1039-3C>G rs730881737
NM_000249.4(MLH1):c.109G>C (p.Glu37Gln) rs63751012
NM_000249.4(MLH1):c.114C>G (p.Asn38Lys) rs267607706
NM_000249.4(MLH1):c.115T>C (p.Cys39Arg) rs587778890
NM_000249.4(MLH1):c.116+1G>A rs267607709
NM_000249.4(MLH1):c.116+1G>T rs267607709
NM_000249.4(MLH1):c.116+2T>A
NM_000249.4(MLH1):c.116+96C>T
NM_000249.4(MLH1):c.116G>A (p.Cys39Tyr) rs63751701
NM_000249.4(MLH1):c.116_116+2del
NM_000249.4(MLH1):c.117-11T>A rs267607711
NM_000249.4(MLH1):c.117-1G>C
NM_000249.4(MLH1):c.117-2A>C
NM_000249.4(MLH1):c.117-3C>G
NM_000249.4(MLH1):c.1178T>C (p.Leu393Pro) rs786203413
NM_000249.4(MLH1):c.117T>G (p.Cys39Trp) rs1305605404
NM_000249.4(MLH1):c.121G>T (p.Asp41Tyr)
NM_000249.4(MLH1):c.131C>A (p.Ser44Tyr) rs63751109
NM_000249.4(MLH1):c.131_132delinsTT (p.Ser44Phe) rs2125710774
NM_000249.4(MLH1):c.1409+1G>A rs267607825
NM_000249.4(MLH1):c.1409+1G>T rs267607825
NM_000249.4(MLH1):c.1409+2T>C rs587778911
NM_000249.4(MLH1):c.1410-2A>G rs746536721
NM_000249.4(MLH1):c.152T>A (p.Val51Asp) rs1553638767
NM_000249.4(MLH1):c.1558+1G>C
NM_000249.4(MLH1):c.1558+2T>A rs267607831
NM_000249.4(MLH1):c.1558+2T>C rs267607831
NM_000249.4(MLH1):c.1558_1558+1delinsAA rs1575554246
NM_000249.4(MLH1):c.1559-1G>A rs267607837
NM_000249.4(MLH1):c.1559-1G>C rs267607837
NM_000249.4(MLH1):c.1588_1590del (p.Phe530del) rs587778930
NM_000249.4(MLH1):c.1616C>A (p.Ala539Asp) rs267607843
NM_000249.4(MLH1):c.1625A>C (p.Gln542Pro) rs63750511
NM_000249.4(MLH1):c.1649T>G (p.Leu550Arg)
NM_000249.4(MLH1):c.1652A>C (p.Asn551Thr) rs63750271
NM_000249.4(MLH1):c.1667+1G>A rs1434898623
NM_000249.4(MLH1):c.1667+1del rs1553658246
NM_000249.4(MLH1):c.1667+2T>C rs878853780
NM_000249.4(MLH1):c.1668-1G>A rs267607845
NM_000249.4(MLH1):c.1668-2A>C rs1559578422
NM_000249.4(MLH1):c.1668-2del
NM_000249.4(MLH1):c.1676T>C (p.Leu559Pro) rs63750059
NM_000249.4(MLH1):c.1691T>G (p.Leu564Arg)
NM_000249.4(MLH1):c.1706C>T (p.Ala569Val) rs1559578814
NM_000249.4(MLH1):c.170_181del (p.Lys57_Gln60del) rs1575395286
NM_000249.4(MLH1):c.1714G>A (p.Gly572Ser) rs587781796
NM_000249.4(MLH1):c.1721T>C (p.Leu574Pro) rs63751608
NM_000249.4(MLH1):c.1731+1_1731+3delinsT
NM_000249.4(MLH1):c.1731+2T>C rs267607856
NM_000249.4(MLH1):c.1731+2dup
NM_000249.4(MLH1):c.1731+5G>C
NM_000249.4(MLH1):c.1731+5_1731+6delinsCC rs2125958437
NM_000249.4(MLH1):c.1731G>T (p.Ser577=) rs63751657
NM_000249.4(MLH1):c.1732-264A>T rs2085261656
NM_000249.4(MLH1):c.1732-9_1747delinsCC
NM_000249.4(MLH1):c.1744C>T (p.Leu582Phe) rs63751713
NM_000249.4(MLH1):c.1745T>G (p.Leu582Arg)
NM_000249.4(MLH1):c.1754T>C (p.Leu585Pro) rs267607865
NM_000249.4(MLH1):c.1757C>A (p.Ala586Asp) rs63750587
NM_000249.4(MLH1):c.1823C>A (p.Ala608Asp) rs267607864
NM_000249.4(MLH1):c.1832TTG[1] (p.Val612del) rs63750486
NM_000249.4(MLH1):c.1843_1845del (p.Leu615del)
NM_000249.4(MLH1):c.1855G>C (p.Ala619Pro) rs267607866
NM_000249.4(MLH1):c.185A>C (p.Gln62Pro) rs2081171469
NM_000249.4(MLH1):c.1865T>C (p.Leu622Pro) rs63750693
NM_000249.4(MLH1):c.1865T>G (p.Leu622Arg)
NM_000249.4(MLH1):c.1877T>C (p.Phe626Ser) rs587778952
NM_000249.4(MLH1):c.187G>A (p.Asp63Asn) rs63750850
NM_000249.4(MLH1):c.187G>C (p.Asp63His) rs63750850
NM_000249.4(MLH1):c.188A>G (p.Asp63Gly) rs1064795693
NM_000249.4(MLH1):c.188A>T (p.Asp63Val) rs1064795693
NM_000249.4(MLH1):c.1896+2T>C rs267607869
NM_000249.4(MLH1):c.1896G>C (p.Glu632Asp)
NM_000249.4(MLH1):c.1896G>T (p.Glu632Asp)
NM_000249.4(MLH1):c.1897-14_1897-1del
NM_000249.4(MLH1):c.1897-15_1901del
NM_000249.4(MLH1):c.1906_1907delinsGG (p.Leu636Gly)
NM_000249.4(MLH1):c.1907T>C (p.Leu636Pro) rs63750825
NM_000249.4(MLH1):c.1918C>A (p.Pro640Thr) rs63749792
NM_000249.4(MLH1):c.1919C>T (p.Pro640Leu) rs267607875
NM_000249.4(MLH1):c.1936T>G (p.Tyr646Asp)
NM_000249.4(MLH1):c.1937A>C (p.Tyr646Ser) rs35045067
NM_000249.4(MLH1):c.193G>T (p.Gly65Cys)
NM_000249.4(MLH1):c.1942C>A (p.Pro648Thr)
NM_000249.4(MLH1):c.1943C>A (p.Pro648His)
NM_000249.4(MLH1):c.1943C>G (p.Pro648Arg) rs63750610
NM_000249.4(MLH1):c.1943C>T (p.Pro648Leu) rs63750610
NM_000249.4(MLH1):c.194G>A (p.Gly65Asp) rs63751465
NM_000249.4(MLH1):c.1976G>T (p.Arg659Leu) rs63749900
NM_000249.4(MLH1):c.1984A>C (p.Thr662Pro) rs587778964
NM_000249.4(MLH1):c.1989+1G>T rs267607879
NM_000249.4(MLH1):c.1989+2T>C rs1553664119
NM_000249.4(MLH1):c.1989+3dup
NM_000249.4(MLH1):c.1989+5G>A rs267607878
NM_000249.4(MLH1):c.1989G>A (p.Glu663=) rs63751662
NM_000249.4(MLH1):c.1989G>C (p.Glu663Asp) rs63751662
NM_000249.4(MLH1):c.1989_1989+8del rs1575628928
NM_000249.4(MLH1):c.1990-11_1990-2delinsTT
NM_000249.4(MLH1):c.1990-1G>C rs267607884
NM_000249.4(MLH1):c.1990-2A>T
NM_000249.4(MLH1):c.1990-2del
NM_000249.4(MLH1):c.1990-3C>G rs267607882
NM_000249.4(MLH1):c.1995_1996delinsG (p.Asn665fs)
NM_000249.4(MLH1):c.199G>A (p.Gly67Arg) rs63750206
NM_000249.4(MLH1):c.1A>C (p.Met1Leu) rs587778967
NM_000249.4(MLH1):c.2019del (p.Phe673fs)
NM_000249.4(MLH1):c.2024del (p.Ser675fs)
NM_000249.4(MLH1):c.2027T>G (p.Leu676Arg) rs63750242
NM_000249.4(MLH1):c.2028_2032delinsT (p.Ser677fs)
NM_000249.4(MLH1):c.2032_2049del (p.Lys678_Phe683del)
NM_000249.4(MLH1):c.2037del (p.Glu679fs)
NM_000249.4(MLH1):c.203T>G (p.Ile68Ser) rs63750281
NM_000249.4(MLH1):c.2041G>C (p.Ala681Pro) rs63750217
NM_000249.4(MLH1):c.2042C>T (p.Ala681Val) rs63750864
NM_000249.4(MLH1):c.2048T>C (p.Phe683Ser) rs587778972
NM_000249.4(MLH1):c.2048_2050del (p.Phe683del) rs1553664506
NM_000249.4(MLH1):c.2054C>T (p.Ser685Phe) rs1064796101
NM_000249.4(MLH1):c.207+3A>C
NM_000249.4(MLH1):c.207+5G>A rs587781518
NM_000249.4(MLH1):c.207+5G>C rs587781518
NM_000249.4(MLH1):c.2072del (p.Ile691fs)
NM_000249.4(MLH1):c.2096del (p.Gly699fs)
NM_000249.4(MLH1):c.2103+2T>A
NM_000249.4(MLH1):c.2103+2T>C
NM_000249.4(MLH1):c.2103+2T>G
NM_000249.4(MLH1):c.2103+3A>G rs587778976
NM_000249.4(MLH1):c.2104-1G>A rs587778978
NM_000249.4(MLH1):c.2104-1G>C
NM_000249.4(MLH1):c.2104-2_2114del
NM_000249.4(MLH1):c.2104-7_2147del
NM_000249.4(MLH1):c.2141_2142dup (p.Thr715fs)
NM_000249.4(MLH1):c.2156_2172del (p.Ile719fs)
NM_000249.4(MLH1):c.2158_2161del (p.Val720fs)
NM_000249.4(MLH1):c.2159T>G (p.Val720Gly) rs587778985
NM_000249.4(MLH1):c.2162del (p.Tyr721fs) rs786202767
NM_000249.4(MLH1):c.2172del (p.Leu724fs)
NM_000249.4(MLH1):c.2178del (p.His727fs)
NM_000249.4(MLH1):c.218T>C (p.Leu73Pro) rs397514684
NM_000249.4(MLH1):c.218T>G (p.Leu73Arg) rs397514684
NM_000249.4(MLH1):c.2219del (p.Ile740fs) rs1575640960
NM_000249.4(MLH1):c.2221del (p.Leu741fs)
NM_000249.4(MLH1):c.2240_2241insGT (p.Asp748fs)
NM_000249.4(MLH1):c.2244_2249delinsG (p.Asp748fs)
NM_000249.4(MLH1):c.2248_2249del (p.Tyr750fs) rs786202326
NM_000249.4(MLH1):c.2250_2251del (p.Tyr750_Lys751delinsTer)
NM_000249.4(MLH1):c.2252_2253dup (p.Val752fs) rs267607901
NM_000249.4(MLH1):c.2253del (p.Val752fs) rs267607901
NM_000249.4(MLH1):c.2255_2268delinsA (p.Val752fs)
NM_000249.4(MLH1):c.2263_2264del (p.Arg755fs) rs1559597322
NM_000249.4(MLH1):c.2269T>C (p.Ter757Gln)
NM_000249.4(MLH1):c.2271A>C (p.Ter757Tyr) rs267607908
NM_000249.4(MLH1):c.2271A>T (p.Ter757Tyr)
NM_000249.4(MLH1):c.242CTA[1] (p.Thr82del) rs786202328
NM_000249.4(MLH1):c.245C>T (p.Thr82Ile) rs63750005
NM_000249.4(MLH1):c.250A>G (p.Lys84Glu) rs63750641
NM_000249.4(MLH1):c.27G>A (p.Arg9=) rs759680369
NM_000249.4(MLH1):c.292G>A (p.Gly98Ser) rs267607725
NM_000249.4(MLH1):c.292G>C (p.Gly98Arg) rs267607725
NM_000249.4(MLH1):c.296T>C (p.Phe99Ser)
NM_000249.4(MLH1):c.301G>A (p.Gly101Ser) rs267607726
NM_000249.4(MLH1):c.301G>C (p.Gly101Arg) rs267607726
NM_000249.4(MLH1):c.301G>T (p.Gly101Cys)
NM_000249.4(MLH1):c.302G>A (p.Gly101Asp) rs267607727
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.305A>C (p.Glu102Ala) rs1553640334
NM_000249.4(MLH1):c.306+2T>G rs1553640340
NM_000249.4(MLH1):c.306G>T (p.Glu102Asp) rs63751665
NM_000249.4(MLH1):c.307-1G>A
NM_000249.4(MLH1):c.307-1G>C rs267607736
NM_000249.4(MLH1):c.320T>A (p.Ile107Lys) rs63750507
NM_000249.4(MLH1):c.325del (p.His109fs) rs1553641273
NM_000249.4(MLH1):c.332C>A (p.Ala111Asp)
NM_000249.4(MLH1):c.344T>A (p.Ile115Asn) rs764120517
NM_000249.4(MLH1):c.350C>A (p.Thr117Lys)
NM_000249.4(MLH1):c.350C>G (p.Thr117Arg) rs63750781
NM_000249.4(MLH1):c.380+1G>C rs267607745
NM_000249.4(MLH1):c.380+1del
NM_000249.4(MLH1):c.380+2T>C rs267607742
NM_000249.4(MLH1):c.380G>C (p.Arg127Thr) rs63751595
NM_000249.4(MLH1):c.380G>T (p.Arg127Ile) rs63751595
NM_000249.4(MLH1):c.380_380+1insTAT
NM_000249.4(MLH1):c.381-1G>C rs267607744
NM_000249.4(MLH1):c.388T>C (p.Tyr130His) rs587779010
NM_000249.4(MLH1):c.3G>A (p.Met1Ile) rs72481822
NM_000249.4(MLH1):c.439G>C (p.Gly147Arg) rs267607747
NM_000249.4(MLH1):c.440G>A (p.Gly147Glu) rs1060500702
NM_000249.4(MLH1):c.453+1G>A rs267607750
NM_000249.4(MLH1):c.453+1G>C rs267607750
NM_000249.4(MLH1):c.453+1G>T rs267607750
NM_000249.4(MLH1):c.453+2T>A
NM_000249.4(MLH1):c.453+2dup
NM_000249.4(MLH1):c.454-10_455delinsGAACA
NM_000249.4(MLH1):c.454-13A>G rs267607749
NM_000249.4(MLH1):c.454-3_454delinsT
NM_000249.4(MLH1):c.454-7T>A
NM_000249.4(MLH1):c.455T>G (p.Val152Gly) rs1559523949
NM_000249.4(MLH1):c.485_523del (p.Arg162_Gly174del)
NM_000249.4(MLH1):c.538_545+27delinsTG
NM_000249.4(MLH1):c.543C>T (p.Gly181=) rs1481129490
NM_000249.4(MLH1):c.545+1G>C
NM_000249.4(MLH1):c.545+1_545+6del
NM_000249.4(MLH1):c.546-1G>A rs587779022
NM_000249.4(MLH1):c.546-1G>C rs587779022
NM_000249.4(MLH1):c.546-1G>T
NM_000249.4(MLH1):c.554T>G (p.Val185Gly) rs63750515
NM_000249.4(MLH1):c.55A>T (p.Ile19Phe) rs63750648
NM_000249.4(MLH1):c.581T>G (p.Val194Gly) rs876658962
NM_000249.4(MLH1):c.588+1del rs267607773
NM_000249.4(MLH1):c.588+2T>C
NM_000249.4(MLH1):c.588+5G>C rs267607768
NM_000249.4(MLH1):c.588+5G>T rs267607768
NM_000249.4(MLH1):c.589-1G>T rs587779027
NM_000249.4(MLH1):c.589-2A>T
NM_000249.4(MLH1):c.62C>T (p.Ala21Val) rs63750706
NM_000249.4(MLH1):c.677+1G>A rs267607778
NM_000249.4(MLH1):c.677+1G>C rs267607778
NM_000249.4(MLH1):c.677+2T>G rs1553644277
NM_000249.4(MLH1):c.677+5G>A rs587779034
NM_000249.4(MLH1):c.677G>T (p.Arg226Leu) rs63751711
NM_000249.4(MLH1):c.678-18_685del
NM_000249.4(MLH1):c.678-2A>G rs587779035
NM_000249.4(MLH1):c.69A>C (p.Glu23Asp)
NM_000249.4(MLH1):c.69A>T (p.Glu23Asp) rs63750555
NM_000249.4(MLH1):c.71_75del (p.Val24fs) rs1553637293
NM_000249.4(MLH1):c.730G>C (p.Gly244Arg)
NM_000249.4(MLH1):c.731G>T (p.Gly244Val) rs63750303
NM_000249.4(MLH1):c.739T>C (p.Ser247Pro) rs63750948
NM_000249.4(MLH1):c.760A>T (p.Lys254Ter)
NM_000249.4(MLH1):c.768_769insCTCCA (p.Ile257fs)
NM_000249.4(MLH1):c.770_771insGTCC (p.Ile257fs)
NM_000249.4(MLH1):c.770_790+82delinsA
NM_000249.4(MLH1):c.779T>G (p.Leu260Arg) rs63751283
NM_000249.4(MLH1):c.783C>T (p.Phe261=) rs768119795
NM_000249.4(MLH1):c.789_790+4del
NM_000249.4(MLH1):c.790+1_790+2delinsTA
NM_000249.4(MLH1):c.790+3A>C
NM_000249.4(MLH1):c.790+3A>T rs267607792
NM_000249.4(MLH1):c.790+4A>C rs267607786
NM_000249.4(MLH1):c.790+4A>G rs267607786
NM_000249.4(MLH1):c.790+4del
NM_000249.4(MLH1):c.791-1G>A rs267607795
NM_000249.4(MLH1):c.791-5T>G rs267607788
NM_000249.4(MLH1):c.794G>C (p.Arg265Pro) rs63751448
NM_000249.4(MLH1):c.875T>C (p.Leu292Pro) rs63750517
NM_000249.4(MLH1):c.882C>T (p.Leu294=) rs63751707
NM_000249.4(MLH1):c.883A>C (p.Ser295Arg) rs63751598
NM_000249.4(MLH1):c.884+1G>A rs1553646764
NM_000249.4(MLH1):c.884+1G>T
NM_000249.4(MLH1):c.884+3A>G rs267607803
NM_000249.4(MLH1):c.884G>T (p.Ser295Ile) rs63750144
NM_000249.4(MLH1):c.885-1G>A rs1553647894
NM_000249.4(MLH1):c.885-1G>C rs1553647894
NM_000249.4(MLH1):c.885-25_1014delinsCA
NM_000249.4(MLH1):c.885-2A>G rs267607805
NM_000249.4(MLH1):c.95T>A (p.Ile32Asn) rs1575377175
NM_000249.4(MLH1):c.974_1000del (p.Arg325_Lys333del)
NM_000249.4(MLH1):c.977T>A (p.Val326Glu) rs63751049
NM_000249.4(MLH1):c.988_990del (p.Ile330del) rs63751197
NM_001258271.2(MLH1):c.1896+834del

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