ClinVar Miner

List of variants in gene MLH1 reported as likely pathogenic by Color Diagnostics, LLC DBA Color Health

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Gene type:
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Total variants: 55
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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.1667G>C (p.Ser556Thr) rs63751596 0.00001
NM_000249.4(MLH1):c.207+1G>A rs267607718 0.00001
NM_000249.4(MLH1):c.-15_28del (p.Met1fs) rs2125693080
NM_000249.4(MLH1):c.114C>G (p.Asn38Lys) rs267607706
NM_000249.4(MLH1):c.1409+1G>A rs267607825
NM_000249.4(MLH1):c.1409+1G>T rs267607825
NM_000249.4(MLH1):c.1409+2T>C rs587778911
NM_000249.4(MLH1):c.1410-2A>G rs746536721
NM_000249.4(MLH1):c.152T>A (p.Val51Asp) rs1553638767
NM_000249.4(MLH1):c.1559-1G>C rs267607837
NM_000249.4(MLH1):c.1667+1G>A rs1434898623
NM_000249.4(MLH1):c.1668-2A>C rs1559578422
NM_000249.4(MLH1):c.1731+5_1731+6delinsCC rs2125958437
NM_000249.4(MLH1):c.1732-264A>T rs2085261656
NM_000249.4(MLH1):c.1757C>A (p.Ala586Asp) rs63750587
NM_000249.4(MLH1):c.187G>A (p.Asp63Asn) rs63750850
NM_000249.4(MLH1):c.188A>T (p.Asp63Val) rs1064795693
NM_000249.4(MLH1):c.1943C>T (p.Pro648Leu) rs63750610
NM_000249.4(MLH1):c.1976G>T (p.Arg659Leu) rs63749900
NM_000249.4(MLH1):c.1989+1G>T rs267607879
NM_000249.4(MLH1):c.1989+5G>A rs267607878
NM_000249.4(MLH1):c.1989G>A (p.Glu663=) rs63751662
NM_000249.4(MLH1):c.1990-1G>C rs267607884
NM_000249.4(MLH1):c.1990-2del
NM_000249.4(MLH1):c.1A>C (p.Met1Leu) rs587778967
NM_000249.4(MLH1):c.2041G>C (p.Ala681Pro) rs63750217
NM_000249.4(MLH1):c.207+5G>A rs587781518
NM_000249.4(MLH1):c.207+5G>C rs587781518
NM_000249.4(MLH1):c.2103+3A>G rs587778976
NM_000249.4(MLH1):c.2104-2_2114del
NM_000249.4(MLH1):c.2252_2253dup (p.Val752fs) rs267607901
NM_000249.4(MLH1):c.245C>T (p.Thr82Ile) rs63750005
NM_000249.4(MLH1):c.304G>A (p.Glu102Lys) rs63750453
NM_000249.4(MLH1):c.306G>T (p.Glu102Asp) rs63751665
NM_000249.4(MLH1):c.350C>G (p.Thr117Arg) rs63750781
NM_000249.4(MLH1):c.381-1G>C rs267607744
NM_000249.4(MLH1):c.388T>C (p.Tyr130His) rs587779010
NM_000249.4(MLH1):c.3G>A (p.Met1Ile) rs72481822
NM_000249.4(MLH1):c.454-13A>G rs267607749
NM_000249.4(MLH1):c.543C>T (p.Gly181=) rs1481129490
NM_000249.4(MLH1):c.677+1G>A rs267607778
NM_000249.4(MLH1):c.677+1G>C rs267607778
NM_000249.4(MLH1):c.677+2T>G rs1553644277
NM_000249.4(MLH1):c.677+5G>A rs587779034
NM_000249.4(MLH1):c.678-2A>G rs587779035
NM_000249.4(MLH1):c.779T>G (p.Leu260Arg) rs63751283
NM_000249.4(MLH1):c.791-5T>G rs267607788
NM_000249.4(MLH1):c.882C>T (p.Leu294=) rs63751707
NM_000249.4(MLH1):c.883A>C (p.Ser295Arg) rs63751598
NM_000249.4(MLH1):c.884+1G>A rs1553646764
NM_000249.4(MLH1):c.884+3A>G rs267607803
NM_000249.4(MLH1):c.885-1G>C rs1553647894
NM_000249.4(MLH1):c.885-2A>G rs267607805
NM_000249.4(MLH1):c.977T>A (p.Val326Glu) rs63751049

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