ClinVar Miner

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

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Total variants: 69
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HGVS dbSNP
NM_000249.3(MLH1):c.1024_1038+1del rs1553648201
NM_000249.3(MLH1):c.109G>C (p.Glu37Gln) rs63751012
NM_000249.3(MLH1):c.115T>C (p.Cys39Arg) rs587778890
NM_000249.3(MLH1):c.116+5G>A rs267607710
NM_000249.3(MLH1):c.116G>A (p.Cys39Tyr) rs63751701
NM_000249.3(MLH1):c.117T>G (p.Cys39Trp) rs1305605404
NM_000249.3(MLH1):c.122A>T (p.Asp41Val) rs63751094
NM_000249.3(MLH1):c.1410-2A>G rs746536721
NM_000249.3(MLH1):c.1517T>C (p.Val506Ala) rs63749909
NM_000249.3(MLH1):c.1559-1G>C rs267607837
NM_000249.3(MLH1):c.1649T>C (p.Leu550Pro) rs63750193
NM_000249.3(MLH1):c.1652A>C (p.Asn551Thr) rs63750271
NM_000249.3(MLH1):c.1667+1del rs1553658246
NM_000249.3(MLH1):c.1667+2T>C rs878853780
NM_000249.3(MLH1):c.1667G>A (p.Ser556Asn) rs63751596
NM_000249.3(MLH1):c.1667G>C (p.Ser556Thr) rs63751596
NM_000249.3(MLH1):c.1731+5G>A rs267607850
NM_000249.3(MLH1):c.1855G>C (p.Ala619Pro) rs267607866
NM_000249.3(MLH1):c.188A>G (p.Asp63Gly) rs1064795693
NM_000249.3(MLH1):c.1943C>G (p.Pro648Arg) rs63750610
NM_000249.3(MLH1):c.194G>A (p.Gly65Asp) rs63751465
NM_000249.3(MLH1):c.1984A>C (p.Thr662Pro) rs587778964
NM_000249.3(MLH1):c.1989+2T>C rs1553664119
NM_000249.3(MLH1):c.2041G>C (p.Ala681Pro) rs63750217
NM_000249.3(MLH1):c.2048T>C (p.Phe683Ser) rs587778972
NM_000249.3(MLH1):c.207+5G>C rs587781518
NM_000249.3(MLH1):c.2103+3A>G rs587778976
NM_000249.3(MLH1):c.2162del (p.Tyr721fs) rs786202767
NM_000249.3(MLH1):c.218T>G (p.Leu73Arg) rs397514684
NM_000249.3(MLH1):c.2253del (p.Val752fs) rs267607901
NM_000249.3(MLH1):c.2259del (p.Phe753fs) rs1060500698
NM_000249.3(MLH1):c.292G>C (p.Gly98Arg) rs267607725
NM_000249.3(MLH1):c.292_293delinsTT (p.Gly98Phe) rs1553640314
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.305A>C (p.Glu102Ala) rs1553640334
NM_000249.3(MLH1):c.306G>A (p.Glu102=) rs63751665
NM_000249.3(MLH1):c.344T>A (p.Ile115Asn) rs764120517
NM_000249.3(MLH1):c.350C>G (p.Thr117Arg) rs63750781
NM_000249.3(MLH1):c.380G>A (p.Arg127Lys) rs63751595
NM_000249.3(MLH1):c.380G>T (p.Arg127Ile) rs63751595
NM_000249.3(MLH1):c.453+1G>T rs267607750
NM_000249.3(MLH1):c.454-13A>G rs267607749
NM_000249.3(MLH1):c.543C>T (p.Gly181=) rs1481129490
NM_000249.3(MLH1):c.55A>T (p.Ile19Phe) rs63750648
NM_000249.3(MLH1):c.581T>G (p.Val194Gly) rs876658962
NM_000249.3(MLH1):c.677+3A>T rs267607780
NM_000249.3(MLH1):c.678-3T>A rs267607785
NM_000249.3(MLH1):c.69A>T (p.Glu23Asp) rs63750555
NM_000249.3(MLH1):c.790+1G>T rs267607789
NM_000249.3(MLH1):c.790+4A>C rs267607786
NM_000249.3(MLH1):c.790+4A>G rs267607786
NM_000249.3(MLH1):c.794G>C (p.Arg265Pro) rs63751448
NM_000249.3(MLH1):c.882C>T (p.Leu294=) rs63751707
NM_000249.3(MLH1):c.885-2A>G rs267607805
NM_000249.3(MLH1):c.977T>A (p.Val326Glu) rs63751049
NM_000249.4(MLH1):c.1558+2T>C rs267607831
NM_000249.4(MLH1):c.1558_1558+1delinsAA rs1575554246
NM_000249.4(MLH1):c.203T>G (p.Ile68Ser) rs63750281
NM_000249.4(MLH1):c.2219del (p.Ile740fs) rs1575640960
NM_000249.4(MLH1):c.244A>G (p.Thr82Ala) rs587778998
NM_000249.4(MLH1):c.380G>C (p.Arg127Thr) rs63751595
NM_000249.4(MLH1):c.95T>A (p.Ile32Asn) rs1575377175
NM_001167617.2(MLH1):c.-48_-46CTA[1] rs786202328
NM_001167617.2(MLH1):c.1294_1296del (p.Phe432del) rs587778930
NM_001167617.2(MLH1):c.1952_1953TA[1] (p.Tyr652fs) rs786202326
NM_001167617.2(MLH1):c.1958_1959dup (p.Val654fs) rs267607901
NM_001258271.1(MLH1):c.1896+1279_1896+1281del rs1553664506
NM_001354630.1(MLH1):c.1732-895_1732-893del rs63750486

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