ClinVar Miner

List of variants in gene MLH1 reported as likely pathogenic by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 249
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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.1706C>T (p.Ala569Val) rs1559578814 0.00001
NM_000249.4(MLH1):c.1874A>C (p.Tyr625Ser) rs748851107 0.00001
NM_000249.4(MLH1):c.244A>G (p.Thr82Ala) rs587778998 0.00001
NM_000249.3(MLH1):c.1897-1delG rs63751643
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_000249.3:c.153_154insALU
NM_000249.3:c.2004_2005insALU
NM_000249.3:c.581_582insL1
NM_000249.3:c.723_724insL1
NM_000249.4(MLH1):c.1024_1038+1del rs1553648201
NM_000249.4(MLH1):c.1038+2T>A rs2125855058
NM_000249.4(MLH1):c.1038+2T>C rs2125855058
NM_000249.4(MLH1):c.1039-2A>C rs267607815
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.116+1G>A rs267607709
NM_000249.4(MLH1):c.116+1G>T rs267607709
NM_000249.4(MLH1):c.116+2T>A rs2125694907
NM_000249.4(MLH1):c.116G>A (p.Cys39Tyr) rs63751701
NM_000249.4(MLH1):c.116_116+2del rs2470604622
NM_000249.4(MLH1):c.117-11T>A rs267607711
NM_000249.4(MLH1):c.117-1G>C rs587779950
NM_000249.4(MLH1):c.117-2A>C rs267607712
NM_000249.4(MLH1):c.117-3C>G rs770919400
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) rs267607713
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+2T>C rs587778911
NM_000249.4(MLH1):c.1410-2A>G rs746536721
NM_000249.4(MLH1):c.1558+1G>C rs267607832
NM_000249.4(MLH1):c.1558+1del rs1553653237
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.1595G>A (p.Gly532Asp) rs2084640841
NM_000249.4(MLH1):c.1615G>C (p.Ala539Pro) rs1559575256
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) rs63750193
NM_000249.4(MLH1):c.1652A>C (p.Asn551Thr) rs63750271
NM_000249.4(MLH1):c.1658_1667+3del rs2125945833
NM_000249.4(MLH1):c.1667+1del rs1553658246
NM_000249.4(MLH1):c.1667+2T>C rs878853780
NM_000249.4(MLH1):c.1668-2del rs2471344625
NM_000249.4(MLH1):c.1676T>C (p.Leu559Pro) rs63750059
NM_000249.4(MLH1):c.1691T>G (p.Leu564Arg) rs2125957548
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 rs2471349424
NM_000249.4(MLH1):c.1731+2T>C rs267607856
NM_000249.4(MLH1):c.1731+2dup rs2471349484
NM_000249.4(MLH1):c.1731+5G>C rs267607850
NM_000249.4(MLH1):c.1731G>C (p.Ser577=) rs63751657
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 rs2471425024
NM_000249.4(MLH1):c.1745T>G (p.Leu582Arg) rs63751616
NM_000249.4(MLH1):c.1745_1746delinsGT (p.Leu582Arg)
NM_000249.4(MLH1):c.1754T>C (p.Leu585Pro) rs267607865
NM_000249.4(MLH1):c.1754T>G (p.Leu585Arg) 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) rs2471434953
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) rs63750693
NM_000249.4(MLH1):c.1877T>C (p.Phe626Ser) rs587778952
NM_000249.4(MLH1):c.188A>G (p.Asp63Gly) rs1064795693
NM_000249.4(MLH1):c.1896+2T>C rs267607869
NM_000249.4(MLH1):c.1896G>C (p.Glu632Asp) rs63751632
NM_000249.4(MLH1):c.1896G>T (p.Glu632Asp) rs63751632
NM_000249.4(MLH1):c.1897-14_1897-1del rs2471455000
NM_000249.4(MLH1):c.1897-15_1901del rs2471454924
NM_000249.4(MLH1):c.189C>A (p.Asp63Glu) rs587778955
NM_000249.4(MLH1):c.1906_1907delinsGG (p.Leu636Gly) rs2471456258
NM_000249.4(MLH1):c.1907T>C (p.Leu636Pro) rs63750825
NM_000249.4(MLH1):c.1919C>T (p.Pro640Leu) rs267607875
NM_000249.4(MLH1):c.1936T>G (p.Tyr646Asp) rs1553663884
NM_000249.4(MLH1):c.1937A>C (p.Tyr646Ser) rs35045067
NM_000249.4(MLH1):c.193G>T (p.Gly65Cys) rs2081173076
NM_000249.4(MLH1):c.1942C>A (p.Pro648Thr) rs63750899
NM_000249.4(MLH1):c.1943C>A (p.Pro648His) rs63750610
NM_000249.4(MLH1):c.1943C>G (p.Pro648Arg) rs63750610
NM_000249.4(MLH1):c.194G>A (p.Gly65Asp) rs63751465
NM_000249.4(MLH1):c.1958T>C (p.Leu653Pro) rs63751202
NM_000249.4(MLH1):c.1984A>C (p.Thr662Pro) rs587778964
NM_000249.4(MLH1):c.1989+1G>C rs267607879
NM_000249.4(MLH1):c.1989+2T>C rs1553664119
NM_000249.4(MLH1):c.1989+3dup rs2471462761
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 rs2471470978
NM_000249.4(MLH1):c.1990-2A>C rs267607883
NM_000249.4(MLH1):c.1990-2A>T rs267607883
NM_000249.4(MLH1):c.1990-3C>G rs267607882
NM_000249.4(MLH1):c.1995_1996delinsG (p.Asn665fs) rs2471471840
NM_000249.4(MLH1):c.2019del (p.Phe673fs) rs2471473234
NM_000249.4(MLH1):c.2024del (p.Ser675fs) rs2471473667
NM_000249.4(MLH1):c.2027T>G (p.Leu676Arg) rs63750242
NM_000249.4(MLH1):c.2028_2032delinsT (p.Ser677fs) rs2471474035
NM_000249.4(MLH1):c.2032_2049del (p.Lys678_Phe683del) rs2471474473
NM_000249.4(MLH1):c.2037del (p.Glu679fs) rs2471474687
NM_000249.4(MLH1):c.203T>G (p.Ile68Ser) rs63750281
NM_000249.4(MLH1):c.2042C>T (p.Ala681Val) rs63750864
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 rs1184598875
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) rs2471477479
NM_000249.4(MLH1):c.208-12G>A
NM_000249.4(MLH1):c.208-1_208del rs587778973
NM_000249.4(MLH1):c.2096del (p.Gly699fs) rs2471479049
NM_000249.4(MLH1):c.2100_2103+13delinsCTG rs2471479367
NM_000249.4(MLH1):c.2103+2T>A rs2148512428
NM_000249.4(MLH1):c.2103+2T>C rs2148512428
NM_000249.4(MLH1):c.2103+2T>G rs2148512428
NM_000249.4(MLH1):c.2104-1G>A rs587778978
NM_000249.4(MLH1):c.2104-1G>C rs587778978
NM_000249.4(MLH1):c.2104-7_2147del rs2471500439
NM_000249.4(MLH1):c.2141_2142dup (p.Thr715fs) rs2471502728
NM_000249.4(MLH1):c.2156_2172del (p.Ile719fs) rs2471503616
NM_000249.4(MLH1):c.2158_2161del (p.Val720fs) rs2471503698
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) rs2471504437
NM_000249.4(MLH1):c.2178del (p.His727fs) rs2471504798
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) rs2471506643
NM_000249.4(MLH1):c.2240_2241insGT (p.Asp748fs) rs2471507698
NM_000249.4(MLH1):c.2244_2249delinsG (p.Asp748fs) rs2471507950
NM_000249.4(MLH1):c.2248_2249del (p.Tyr750fs) rs786202326
NM_000249.4(MLH1):c.2250_2251del (p.Tyr750_Lys751delinsTer) rs2471508293
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) rs2471508751
NM_000249.4(MLH1):c.2258T>C (p.Phe753Ser) rs587778993
NM_000249.4(MLH1):c.2263_2264del (p.Arg755fs) rs1559597322
NM_000249.4(MLH1):c.2269T>C (p.Ter757Gln) rs587778995
NM_000249.4(MLH1):c.2271A>C (p.Ter757Tyr) rs267607908
NM_000249.4(MLH1):c.2271A>T (p.Ter757Tyr) rs267607908
NM_000249.4(MLH1):c.238T>G (p.Phe80Val) rs63749990
NM_000249.4(MLH1):c.242CTA[1] (p.Thr82del) rs786202328
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) rs2081475505
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) rs267607726
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+1222A>G rs2470778520
NM_000249.4(MLH1):c.306+2T>G rs1553640340
NM_000249.4(MLH1):c.307-1G>A rs267607736
NM_000249.4(MLH1):c.307-1G>C rs267607736
NM_000249.4(MLH1):c.320T>A (p.Ile107Lys) rs63750507
NM_000249.4(MLH1):c.332C>A (p.Ala111Asp) rs63750539
NM_000249.4(MLH1):c.344T>A (p.Ile115Asn) rs764120517
NM_000249.4(MLH1):c.350C>A (p.Thr117Lys) rs63750781
NM_000249.4(MLH1):c.380+1del rs2470807543
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 rs2470807557
NM_000249.4(MLH1):c.389A>C (p.Tyr130Ser)
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 rs267607751
NM_000249.4(MLH1):c.453+2dup rs2470844128
NM_000249.4(MLH1):c.454-10_455delinsGAACA rs2470867588
NM_000249.4(MLH1):c.454-3_454delinsT rs2470867807
NM_000249.4(MLH1):c.454-7T>A rs2470867659
NM_000249.4(MLH1):c.455T>G (p.Val152Gly) rs1559523949
NM_000249.4(MLH1):c.464T>G (p.Leu155Arg) rs63750891
NM_000249.4(MLH1):c.485_523del (p.Arg162_Gly174del) rs2470869223
NM_000249.4(MLH1):c.514G>A (p.Glu172Lys) rs1559524405
NM_000249.4(MLH1):c.538_545+27delinsTG rs2470871442
NM_000249.4(MLH1):c.543C>T (p.Gly181=) rs1481129490
NM_000249.4(MLH1):c.545+1G>C rs267607765
NM_000249.4(MLH1):c.545+1_545+6del rs2470871542
NM_000249.4(MLH1):c.545G>A (p.Arg182Lys) rs587779021
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 rs587779022
NM_000249.4(MLH1):c.554T>G (p.Val185Gly) rs63750515
NM_000249.4(MLH1):c.581T>G (p.Val194Gly) rs876658962
NM_000249.4(MLH1):c.588+1G>C rs267607772
NM_000249.4(MLH1):c.588+1del rs267607773
NM_000249.4(MLH1):c.588+2T>C rs587779024
NM_000249.4(MLH1):c.588+3_588+6del rs267607769
NM_000249.4(MLH1):c.588+5G>C rs267607768
NM_000249.4(MLH1):c.588+5G>T rs267607768
NM_000249.4(MLH1):c.589-2A>T rs267607767
NM_000249.4(MLH1):c.62C>T (p.Ala21Val) rs63750706
NM_000249.4(MLH1):c.678-18_685del rs2470961086
NM_000249.4(MLH1):c.69A>C (p.Glu23Asp) rs63750555
NM_000249.4(MLH1):c.69A>T (p.Glu23Asp) rs63750555
NM_000249.4(MLH1):c.730G>C (p.Gly244Arg) rs2082528605
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) rs1575481094
NM_000249.4(MLH1):c.770_790+82delinsA rs2470965363
NM_000249.4(MLH1):c.789_790+4del rs2470966392
NM_000249.4(MLH1):c.790+1_790+2delinsTA rs2470966628
NM_000249.4(MLH1):c.790+3A>C rs267607792
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 rs2470966746
NM_000249.4(MLH1):c.790+5G>A rs267607771
NM_000249.4(MLH1):c.791-1G>A rs267607795
NM_000249.4(MLH1):c.794G>C (p.Arg265Pro) rs63751448
NM_000249.4(MLH1):c.842C>T (p.Ala281Val) rs63749950
NM_000249.4(MLH1):c.875T>C (p.Leu292Pro) rs63750517
NM_000249.4(MLH1):c.883A>C (p.Ser295Arg) rs63751598
NM_000249.4(MLH1):c.884+1G>T rs1553646764
NM_000249.4(MLH1):c.884G>T (p.Ser295Ile) rs63750144
NM_000249.4(MLH1):c.885-1G>A rs1553647894
NM_000249.4(MLH1):c.885-25_1014delinsCA rs2471047057
NM_000249.4(MLH1):c.885-2A>G rs267607805
NM_000249.4(MLH1):c.931A>G (p.Lys311Glu) rs876658657
NM_000249.4(MLH1):c.932A>G (p.Lys311Arg)
NM_000249.4(MLH1):c.95T>A (p.Ile32Asn) rs1575377175
NM_000249.4(MLH1):c.974_1000del (p.Arg325_Lys333del) rs2471052718
NM_000249.4(MLH1):c.977T>A (p.Val326Glu) rs63751049
NM_000249.4(MLH1):c.988_990del (p.Ile330del) rs63751197

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