ClinVar Miner

List of variants in gene MLH1 studied for Turcot syndrome

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Total variants: 8
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HGVS dbSNP
MLH1, 2-BP DEL, 593AG
MLH1, EX16DEL
NM_000249.3(MLH1):c.104_105delinsAC (p.Met35Asn) rs121912965
NM_000249.3(MLH1):c.1846_1848AAG[2] (p.Lys618del) rs63751247
NM_000249.3(MLH1):c.1942C>T (p.Pro648Ser) rs63750899
NM_000249.3(MLH1):c.199G>T (p.Gly67Trp) rs63750206
NM_000249.3(MLH1):c.218T>G (p.Leu73Arg) rs397514684
NM_000249.3(MLH1):c.676C>T (p.Arg226Ter) rs63751615

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