ClinVar Miner

List of variants in gene MLH1 reported as pathogenic by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Gene type:
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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000249.3(MLH1):c.(?_1732)_(2271_?)del
NM_000249.4(MLH1):c.1381A>T (p.Lys461Ter) rs63750540
NM_000249.4(MLH1):c.1668-1G>A rs267607845
NM_000249.4(MLH1):c.199G>A (p.Gly67Arg) rs63750206
NM_000249.4(MLH1):c.350C>T (p.Thr117Met) rs63750781
NM_000249.4(MLH1):c.793C>T (p.Arg265Cys) rs63751194

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