ClinVar Miner

List of variants in gene MLH1 reported as likely pathogenic for Lynch syndrome

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Total variants: 128
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HGVS dbSNP gnomAD frequency
NM_000249.4(MLH1):c.116+5G>A rs267607710 0.00003
NM_000249.4(MLH1):c.1667G>C (p.Ser556Thr) rs63751596 0.00001
NM_000249.4(MLH1):c.207+1G>A rs267607718 0.00001
NC_000003.12:g.(?_37011820)_(37017599_?)del
NM_000249.3(MLH1):c.546-?_1731+?dup
NM_000249.4(MLH1):c.1011dup (p.Asn338fs) rs63750677
NM_000249.4(MLH1):c.1032del (p.Phe344fs) rs1553648225
NM_000249.4(MLH1):c.1038+1G>C rs267607816
NM_000249.4(MLH1):c.1038G>A (p.Gln346=) rs63751715
NM_000249.4(MLH1):c.1039-2A>G rs267607815
NM_000249.4(MLH1):c.1039-2A>T rs267607815
NM_000249.4(MLH1):c.109G>C (p.Glu37Gln) rs63751012
NM_000249.4(MLH1):c.116+1G>A rs267607709
NM_000249.4(MLH1):c.1409+1G>A rs267607825
NM_000249.4(MLH1):c.1409+2T>G rs587778911
NM_000249.4(MLH1):c.1410-2A>G rs746536721
NM_000249.4(MLH1):c.1410-2_1410-1delinsCC rs1559558071
NM_000249.4(MLH1):c.143A>C (p.Gln48Pro) rs587778914
NM_000249.4(MLH1):c.1451del (p.Asp484fs)
NM_000249.4(MLH1):c.1558+1G>A rs267607832
NM_000249.4(MLH1):c.1558+1del
NM_000249.4(MLH1):c.1558+2T>G rs267607831
NM_000249.4(MLH1):c.1559-1G>A rs267607837
NM_000249.4(MLH1):c.1559-1G>C rs267607837
NM_000249.4(MLH1):c.1559-2A>C rs267607836
NM_000249.4(MLH1):c.156del (p.Glu53fs) rs63750028
NM_000249.4(MLH1):c.1597del (p.Cys533fs) rs1559575107
NM_000249.4(MLH1):c.1664T>C (p.Leu555Pro) rs587778937
NM_000249.4(MLH1):c.1664T>G (p.Leu555Arg) rs587778937
NM_000249.4(MLH1):c.1668-1G>A rs267607845
NM_000249.4(MLH1):c.1668-1G>T rs267607845
NM_000249.4(MLH1):c.1668-3C>A rs267607844
NM_000249.4(MLH1):c.1676T>C (p.Leu559Pro) rs63750059
NM_000249.4(MLH1):c.1721T>C (p.Leu574Pro) rs63751608
NM_000249.4(MLH1):c.1731+1G>C rs267607853
NM_000249.4(MLH1):c.1731+1G>T rs267607853
NM_000249.4(MLH1):c.1731+2T>G rs267607856
NM_000249.4(MLH1):c.1731+3A>T rs267607851
NM_000249.4(MLH1):c.1732-2A>G rs267607852
NM_000249.4(MLH1):c.174_175delinsT (p.Leu58fs) rs876660860
NM_000249.4(MLH1):c.1766C>A (p.Ala589Asp) rs63750016
NM_000249.4(MLH1):c.1832TTG[1] (p.Val612del) rs63750486
NM_000249.4(MLH1):c.1855G>C (p.Ala619Pro) rs267607866
NM_000249.4(MLH1):c.187G>A (p.Asp63Asn) rs63750850
NM_000249.4(MLH1):c.1896+1G>A rs267607867
NM_000249.4(MLH1):c.1896+1G>T rs267607867
NM_000249.4(MLH1):c.1896+1del rs267607868
NM_000249.4(MLH1):c.1896+2T>C rs267607869
NM_000249.4(MLH1):c.1897-2A>G rs267607871
NM_000249.4(MLH1):c.1918C>T (p.Pro640Ser) rs63749792
NM_000249.4(MLH1):c.1919C>T (p.Pro640Leu) rs267607875
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.1984A>C (p.Thr662Pro) rs587778964
NM_000249.4(MLH1):c.1989+1G>C rs267607879
NM_000249.4(MLH1):c.1989+1G>T rs267607879
NM_000249.4(MLH1):c.1989+2T>C rs1553664119
NM_000249.4(MLH1):c.1989G>C (p.Glu663Asp) rs63751662
NM_000249.4(MLH1):c.1990-16_1990-2del rs267607881
NM_000249.4(MLH1):c.1990-1G>T rs267607884
NM_000249.4(MLH1):c.2038T>C (p.Cys680Arg) rs63750809
NM_000249.4(MLH1):c.203T>A (p.Ile68Asn) rs63750281
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.207+1G>T rs267607718
NM_000249.4(MLH1):c.207+1_207+2del rs267607719
NM_000249.4(MLH1):c.207+2T>C rs267607722
NM_000249.4(MLH1):c.208-3C>G rs267607720
NM_000249.4(MLH1):c.2103+1G>C rs267607888
NM_000249.4(MLH1):c.2103+1G>T rs267607888
NM_000249.4(MLH1):c.2103+2T>C
NM_000249.4(MLH1):c.2104-1G>T rs587778978
NM_000249.4(MLH1):c.2104-2A>G rs267607889
NM_000249.4(MLH1):c.2153A>C (p.His718Pro) rs587778983
NM_000249.4(MLH1):c.2262del (p.Arg755fs) rs267607904
NM_000249.4(MLH1):c.250A>G (p.Lys84Glu) rs63750641
NM_000249.4(MLH1):c.293_304del (p.Gly98_Gly101del) rs63751691
NM_000249.4(MLH1):c.301G>A (p.Gly101Ser) rs267607726
NM_000249.4(MLH1):c.307-1G>C rs267607736
NM_000249.4(MLH1):c.307-2A>C rs267607732
NM_000249.4(MLH1):c.332C>T (p.Ala111Val) rs63750539
NM_000249.4(MLH1):c.347del (p.Thr116fs) rs876661159
NM_000249.4(MLH1):c.380+1G>A rs267607745
NM_000249.4(MLH1):c.380+2T>C rs267607742
NM_000249.4(MLH1):c.381-2A>G rs267607743
NM_000249.4(MLH1):c.3G>T (p.Met1Ile) rs72481822
NM_000249.4(MLH1):c.440G>A (p.Gly147Glu) rs1060500702
NM_000249.4(MLH1):c.453+1G>T rs267607750
NM_000249.4(MLH1):c.454-13A>G rs267607749
NM_000249.4(MLH1):c.454-1G>C rs193922370
NM_000249.4(MLH1):c.454-1G>T rs193922370
NM_000249.4(MLH1):c.454-2A>G rs267607753
NM_000249.4(MLH1):c.469dup (p.Tyr157fs) rs63751101
NM_000249.4(MLH1):c.543C>G (p.Gly181=) rs1481129490
NM_000249.4(MLH1):c.545+1G>A rs267607765
NM_000249.4(MLH1):c.545G>C (p.Arg182Thr) rs587779021
NM_000249.4(MLH1):c.546-1G>A rs587779022
NM_000249.4(MLH1):c.574_588+2del rs587779023
NM_000249.4(MLH1):c.583A>T (p.Lys195Ter) rs863225383
NM_000249.4(MLH1):c.588+1del rs267607773
NM_000249.4(MLH1):c.588+2T>A rs587779024
NM_000249.4(MLH1):c.589-1G>T rs587779027
NM_000249.4(MLH1):c.589-2A>C rs267607767
NM_000249.4(MLH1):c.677+1G>A rs267607778
NM_000249.4(MLH1):c.677G>T (p.Arg226Leu) rs63751711
NM_000249.4(MLH1):c.677_677+1insT rs587779033
NM_000249.4(MLH1):c.678-1G>A rs267607784
NM_000249.4(MLH1):c.678-1G>T rs267607784
NM_000249.4(MLH1):c.678-2A>G rs587779035
NM_000249.4(MLH1):c.73A>T (p.Ile25Phe) rs63749838
NM_000249.4(MLH1):c.765_766insA (p.Cys256fs)
NM_000249.4(MLH1):c.790+1G>C rs267607789
NM_000249.4(MLH1):c.791-1G>T rs267607795
NM_000249.4(MLH1):c.791-2A>G rs267607794
NM_000249.4(MLH1):c.791-7T>A rs587779042
NM_000249.4(MLH1):c.793C>A (p.Arg265Ser) rs63751194
NM_000249.4(MLH1):c.827T>G (p.Ile276Arg) rs1253275403
NM_000249.4(MLH1):c.83del (p.Pro28fs)
NM_000249.4(MLH1):c.860del (p.Asn287fs) rs63750034
NM_000249.4(MLH1):c.875T>C (p.Leu292Pro) rs63750517
NM_000249.4(MLH1):c.884+2T>C rs267607806
NM_000249.4(MLH1):c.885-1G>T
NM_000249.4(MLH1):c.885-2A>G rs267607805
NM_000249.4(MLH1):c.911A>T (p.Asp304Val) rs63750993
NM_000249.4(MLH1):c.927dup (p.Thr310fs) rs1553647995
NM_000249.4(MLH1):c.960_964dup (p.Ile322fs) rs1553648047
NM_000249.4(MLH1):c.971dup (p.Arg325fs) rs587781554
NM_000249.4(MLH1):c.980_983dup (p.His329fs) rs1559544297

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