ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 98
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HGVS dbSNP
NM_000249.3(MLH1):c.1038+1G>C rs267607816
NM_000249.3(MLH1):c.1039-2A>G rs267607815
NM_000249.3(MLH1):c.1039-2A>T rs267607815
NM_000249.3(MLH1):c.114C>A (p.Asn38Lys)
NM_000249.3(MLH1):c.116+1G>A rs267607709
NM_000249.3(MLH1):c.117-1G>T
NM_000249.3(MLH1):c.1409+1G>A rs267607825
NM_000249.3(MLH1):c.1409+2T>G rs587778911
NM_000249.3(MLH1):c.143A>C (p.Gln48Pro) rs587778914
NM_000249.3(MLH1):c.1558+2T>G rs267607831
NM_000249.3(MLH1):c.1559-1G>A rs267607837
NM_000249.3(MLH1):c.1559-1G>C rs267607837
NM_000249.3(MLH1):c.1559-2A>C rs267607836
NM_000249.3(MLH1):c.1664T>C (p.Leu555Pro) rs587778937
NM_000249.3(MLH1):c.1668-1G>A rs267607845
NM_000249.3(MLH1):c.1668-1G>T rs267607845
NM_000249.3(MLH1):c.1668-3C>A rs267607844
NM_000249.3(MLH1):c.1676T>C (p.Leu559Pro) rs63750059
NM_000249.3(MLH1):c.1721T>C (p.Leu574Pro) rs63751608
NM_000249.3(MLH1):c.1731+1G>C rs267607853
NM_000249.3(MLH1):c.1731+1G>T rs267607853
NM_000249.3(MLH1):c.1731+2T>G rs267607856
NM_000249.3(MLH1):c.1731+3A>T rs267607851
NM_000249.3(MLH1):c.1732-2A>G rs267607852
NM_000249.3(MLH1):c.1766C>A (p.Ala589Asp) rs63750016
NM_000249.3(MLH1):c.1832_1834TTG[1] (p.Val612del) rs63750486
NM_000249.3(MLH1):c.1855G>C (p.Ala619Pro) rs267607866
NM_000249.3(MLH1):c.1896+1G>A rs267607867
NM_000249.3(MLH1):c.1896+1G>T rs267607867
NM_000249.3(MLH1):c.1896+2T>C rs267607869
NM_000249.3(MLH1):c.1897-2A>G rs267607871
NM_000249.3(MLH1):c.1918C>T (p.Pro640Ser) rs63749792
NM_000249.3(MLH1):c.1943C>T (p.Pro648Leu) rs63750610
NM_000249.3(MLH1):c.194G>A (p.Gly65Asp) rs63751465
NM_000249.3(MLH1):c.1958T>G (p.Leu653Arg) rs63751202
NM_000249.3(MLH1):c.1984A>C (p.Thr662Pro) rs587778964
NM_000249.3(MLH1):c.1989+1G>C rs267607879
NM_000249.3(MLH1):c.1990-16_1990-2del rs267607881
NM_000249.3(MLH1):c.1990-1G>T rs267607884
NM_000249.3(MLH1):c.203T>A (p.Ile68Asn) rs63750281
NM_000249.3(MLH1):c.2048T>C (p.Phe683Ser) rs587778972
NM_000249.3(MLH1):c.207+1G>A rs267607718
NM_000249.3(MLH1):c.207+1G>T rs267607718
NM_000249.3(MLH1):c.207+1_207+2del rs267607719
NM_000249.3(MLH1):c.207+2T>C rs267607722
NM_000249.3(MLH1):c.208-3C>G rs267607720
NM_000249.3(MLH1):c.2103+1G>C rs267607888
NM_000249.3(MLH1):c.2103+1G>T rs267607888
NM_000249.3(MLH1):c.2104-1G>T rs587778978
NM_000249.3(MLH1):c.2104-2A>G rs267607889
NM_000249.3(MLH1):c.2153A>C (p.His718Pro) rs587778983
NM_000249.3(MLH1):c.238T>G (p.Phe80Val) rs63749990
NM_000249.3(MLH1):c.244A>G (p.Thr82Ala) rs587778998
NM_000249.3(MLH1):c.250A>G (p.Lys84Glu) rs63750641
NM_000249.3(MLH1):c.293_304del (p.Gly98_Gly101del) rs63751691
NM_000249.3(MLH1):c.301G>A (p.Gly101Ser) rs267607726
NM_000249.3(MLH1):c.302G>A (p.Gly101Asp) rs267607727
NM_000249.3(MLH1):c.304G>A (p.Glu102Lys) rs63750453
NM_000249.3(MLH1):c.306G>T (p.Glu102Asp) rs63751665
NM_000249.3(MLH1):c.307-1G>C rs267607736
NM_000249.3(MLH1):c.307-2A>C rs267607732
NM_000249.3(MLH1):c.332C>T (p.Ala111Val) rs63750539
NM_000249.3(MLH1):c.350C>G (p.Thr117Arg) rs63750781
NM_000249.3(MLH1):c.380+1G>A rs267607745
NM_000249.3(MLH1):c.380+2T>C rs267607742
NM_000249.3(MLH1):c.381-2A>G rs267607743
NM_000249.3(MLH1):c.440G>A (p.Gly147Glu)
NM_000249.3(MLH1):c.453+1G>T rs267607750
NM_000249.3(MLH1):c.454-13A>G rs267607749
NM_000249.3(MLH1):c.454-1G>T rs193922370
NM_000249.3(MLH1):c.454-2A>G rs267607753
NM_000249.3(MLH1):c.543C>G (p.Gly181=) rs1481129490
NM_000249.3(MLH1):c.545+1G>A rs267607765
NM_000249.3(MLH1):c.546-1G>A rs587779022
NM_000249.3(MLH1):c.574_588+2del rs587779023
NM_000249.3(MLH1):c.588+2T>A rs587779024
NM_000249.3(MLH1):c.589-1G>T rs587779027
NM_000249.3(MLH1):c.677+1G>A rs267607778
NM_000249.3(MLH1):c.677G>T (p.Arg226Leu) rs63751711
NM_000249.3(MLH1):c.677_677+1insT rs587779033
NM_000249.3(MLH1):c.678-1G>T rs267607784
NM_000249.3(MLH1):c.678-2A>G rs587779035
NM_000249.3(MLH1):c.73A>T (p.Ile25Phe) rs63749838
NM_000249.3(MLH1):c.790+1G>C rs267607789
NM_000249.3(MLH1):c.790+2T>A rs267607790
NM_000249.3(MLH1):c.791-1G>T rs267607795
NM_000249.3(MLH1):c.791-2A>G rs267607794
NM_000249.3(MLH1):c.791-7T>A rs587779042
NM_000249.3(MLH1):c.794G>C (p.Arg265Pro) rs63751448
NM_000249.3(MLH1):c.884+2T>C rs267607806
NM_000249.3(MLH1):c.884G>C (p.Ser295Thr) rs63750144
NM_000249.3(MLH1):c.885-2A>G rs267607805
NM_000249.3(MLH1):c.911A>T (p.Asp304Val) rs63750993
NM_000249.3(MLH1):c.923A>C (p.His308Pro) rs1559543768
NM_000249.3(MLH1):c.931A>G (p.Lys311Glu) rs876658657
NM_000249.3(MLH1):c.988_990del (p.Ile330del) rs63751197
NM_001167617.2(MLH1):c.1602+1del rs267607868
NM_001167617.2(MLH1):c.294+1del rs267607773

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