ClinVar Miner

List of variants in gene MLH1 reported as pathogenic by PreventionGenetics, part of Exact Sciences

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000249.4(MLH1):c.2059C>T (p.Arg687Trp) rs63751275 0.00001
NM_000249.4(MLH1):c.1772_1775del (p.Asp591fs) rs63749868
NM_000249.4(MLH1):c.1855del (p.Ala619fs) rs63749986
NM_000249.4(MLH1):c.1989+1G>T rs267607879
NM_000249.4(MLH1):c.199G>A (p.Gly67Arg) rs63750206
NM_000249.4(MLH1):c.503dup (p.Asn168fs) rs63749959

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