ClinVar Miner

List of variants in gene MLH1 reported as pathogenic by Counsyl

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Total variants: 17
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HGVS dbSNP
NM_000249.3(MLH1):c.1011dupC (p.Asn338Glnfs) rs63750677
NM_000249.3(MLH1):c.1246A>T (p.Lys416Ter) rs267607823
NM_000249.3(MLH1):c.1459C>T (p.Arg487Ter) rs63749795
NM_000249.3(MLH1):c.1489dupC (p.Arg497Profs) rs63750855
NM_000249.3(MLH1):c.1559-2A>G rs267607836
NM_000249.3(MLH1):c.1731G>A (p.Ser577=) rs63751657
NM_000249.3(MLH1):c.1852_1854delAAG (p.Lys618del) rs587782285
NM_000249.3(MLH1):c.199G>A (p.Gly67Arg) rs63750206
NM_000249.3(MLH1):c.2041G>A (p.Ala681Thr) rs63750217
NM_000249.3(MLH1):c.2059C>T (p.Arg687Trp) rs63751275
NM_000249.3(MLH1):c.2252_2253delAA (p.Lys751Serfs) rs267607901
NM_000249.3(MLH1):c.298C>T (p.Arg100Ter) rs63751221
NM_000249.3(MLH1):c.453+1G>T rs267607750
NM_000249.3(MLH1):c.589-2A>G rs267607767
NM_000249.3(MLH1):c.676C>T (p.Arg226Ter) rs63751615
NM_000249.3(MLH1):c.677G>A (p.Arg226Gln) rs63751711
NM_000249.3(MLH1):c.793C>T (p.Arg265Cys) rs63751194

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