ClinVar Miner

List of variants in gene MLH1 reported as pathogenic by A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center

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Gene type:
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Total variants: 12
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HGVS dbSNP
NM_000249.3(MLH1):c.1276C>T (p.Gln426Ter) rs63750316
NM_000249.3(MLH1):c.1459C>T (p.Arg487Ter) rs63749795
NM_000249.3(MLH1):c.1639_1643dupTTATA (p.Leu549Tyrfs) rs587778934
NM_000249.3(MLH1):c.1853delAinsTTCTT (p.Lys618Ilefs) rs587778949
NM_000249.3(MLH1):c.1975C>T (p.Arg659Ter) rs63751310
NM_000249.3(MLH1):c.2041G>A (p.Ala681Thr) rs63750217
NM_000249.3(MLH1):c.2224C>T (p.Gln742Ter) rs587778992
NM_000249.3(MLH1):c.545+3A>G rs267607760
NM_000249.3(MLH1):c.677G>A (p.Arg226Gln) rs63751711
NM_000249.3(MLH1):c.779T>G (p.Leu260Arg) rs63751283
NM_000249.3(MLH1):c.791-4_795del rs587779041
NM_000249.3(MLH1):c.83C>T (p.Pro28Leu) rs63750792

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