ClinVar Miner

List of variants in gene MLH1 reported as pathogenic by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

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Gene type:
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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_000249.4(MLH1):c.2059C>T (p.Arg687Trp) rs63751275 0.00001
NM_000249.4(MLH1):c.298C>T (p.Arg100Ter) rs63751221 0.00001
NM_000249.4(MLH1):c.1459C>T (p.Arg487Ter) rs63749795
NM_000249.4(MLH1):c.1731+1G>A rs267607853
NM_000249.4(MLH1):c.1896G>A (p.Glu632=) rs63751632
NM_000249.4(MLH1):c.1975C>T (p.Arg659Ter) rs63751310
NM_000249.4(MLH1):c.1990-3C>G rs267607882
NM_000249.4(MLH1):c.199G>A (p.Gly67Arg) rs63750206
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr) rs63750217
NM_000249.4(MLH1):c.2070C>A (p.Tyr690Ter) rs550890395
NM_000249.4(MLH1):c.256C>T (p.Gln86Ter) rs63751421
NM_000249.4(MLH1):c.350C>T (p.Thr117Met) rs63750781
NM_000249.4(MLH1):c.454-13A>G rs267607749
NM_000249.4(MLH1):c.454-1G>A rs193922370
NM_000249.4(MLH1):c.545+3A>G rs267607760
NM_000249.4(MLH1):c.676C>T (p.Arg226Ter) rs63751615
NM_000249.4(MLH1):c.678-1G>A rs267607784
NM_000249.4(MLH1):c.76C>T (p.Gln26Ter) rs63749827
NM_000249.4(MLH1):c.790+1G>A rs267607789
NM_000249.4(MLH1):c.791-1G>C rs267607795
NM_000249.4(MLH1):c.793C>T (p.Arg265Cys) rs63751194
NM_000249.4(MLH1):c.806C>G (p.Ser269Ter) rs63750691

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