ClinVar Miner

List of variants in gene MLH1 reported by GeneKor MSA

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_000249.4(MLH1):c.1964T>C (p.Ile655Thr) rs63751225 0.00010
NM_000249.4(MLH1):c.1360G>C (p.Gly454Arg) rs63750527 0.00006
NM_000249.4(MLH1):c.2174G>A (p.Arg725His) rs566928243 0.00006
NM_000249.4(MLH1):c.438A>G (p.Gln146=) rs377279035 0.00005
NM_000249.4(MLH1):c.306+4A>G rs267607733 0.00001
NM_000249.3(MLH1):c.(453+1_454-1)_(545+1_546-1)del
NM_000249.4(MLH1):c.1409+1G>A rs267607825
NM_000249.4(MLH1):c.199G>A (p.Gly67Arg) rs63750206
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr) rs63750217
NM_000249.4(MLH1):c.479C>T (p.Ala160Val) rs63749924
NM_000249.4(MLH1):c.677G>T (p.Arg226Leu) rs63751711
NM_000249.4(MLH1):c.91_92delinsTG (p.Ala31Cys) rs63749994
NM_000249.4(MLH1):c.94A>T (p.Ile32Phe) rs2020872
NM_000249.4(MLH1):c.96C>G (p.Ile32Met) rs1553637356

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