ClinVar Miner

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

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Gene type:
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Total variants: 45
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HGVS dbSNP
NM_000249.3(MLH1):c.109G>C (p.Glu37Gln) rs63751012
NM_000249.3(MLH1):c.116+5G>A rs267607710
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.1517T>C (p.Val506Ala) rs63749909
NM_000249.3(MLH1):c.1588_1590delTTC (p.Phe530del) rs587778930
NM_000249.3(MLH1):c.1649T>C (p.Leu550Pro) rs63750193
NM_000249.3(MLH1):c.1667+1delG rs1553658246
NM_000249.3(MLH1):c.1667G>C (p.Ser556Thr) rs63751596
NM_000249.3(MLH1):c.1835_1837delTTG (p.Val612del) rs63750486
NM_000249.3(MLH1):c.1855G>C (p.Ala619Pro) rs267607866
NM_000249.3(MLH1):c.187G>A (p.Asp63Asn) rs63750850
NM_000249.3(MLH1):c.188A>G (p.Asp63Gly) rs1064795693
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>G (p.Pro648Arg) rs63750610
NM_000249.3(MLH1):c.194G>A (p.Gly65Asp) rs63751465
NM_000249.3(MLH1):c.1989+2T>C rs1553664119
NM_000249.3(MLH1):c.2041G>C (p.Ala681Pro) rs63750217
NM_000249.3(MLH1):c.2048_2050delTCT (p.Phe683del) rs1553664506
NM_000249.3(MLH1):c.208-3C>G rs267607720
NM_000249.3(MLH1):c.2103+3A>G rs587778976
NM_000249.3(MLH1):c.2162delA (p.Tyr721Leufs) rs786202767
NM_000249.3(MLH1):c.218T>G (p.Leu73Arg) rs397514684
NM_000249.3(MLH1):c.2236dup (p.Leu746Profs) rs1553665977
NM_000249.3(MLH1):c.2248_2249delTA (p.Tyr750Glnfs) rs786202326
NM_000249.3(MLH1):c.244A>G (p.Thr82Ala) rs587778998
NM_000249.3(MLH1):c.245_247delCTA (p.Thr82del) rs786202328
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.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.454-13A>G rs267607749
NM_000249.3(MLH1):c.454-2A>G rs267607753
NM_000249.3(MLH1):c.55A>T (p.Ile19Phe) rs63750648
NM_000249.3(MLH1):c.677+3A>T rs267607780
NM_000249.3(MLH1):c.731G>A (p.Gly244Asp) rs63750303
NM_000249.3(MLH1):c.790+1G>T rs267607789
NM_000249.3(MLH1):c.790+4A>C rs267607786
NM_000249.3(MLH1):c.791-2A>T rs267607794
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

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