ClinVar Miner

List of variants in gene MLH1 studied for Colon cancer

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000249.4(MLH1):c.1141C>T (p.His381Tyr) rs63750557 0.00001
NC_000003.12:g.36993510_36999509del
NM_000249.4(MLH1):c.1238_1239del (p.Thr413fs) rs1553651073
NM_000249.4(MLH1):c.1336_1337del (p.Ser446fs) rs1114167435
NM_000249.4(MLH1):c.1667+1G>A rs1434898623
NM_000249.4(MLH1):c.1731G>A (p.Ser577=) rs63751657
NM_000249.4(MLH1):c.350C>T (p.Thr117Met) rs63750781
NM_000249.4(MLH1):c.497dup (p.Leu166fs) rs587779018
NM_000249.4(MLH1):c.806C>G (p.Ser269Ter) rs63750691
NM_000249.4(MLH1):c.887T>G (p.Leu296Ter) rs63750547

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