ClinVar Miner

List of variants in gene MLH1 reported as pathogenic for Breast and/or ovarian cancer

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000249.4(MLH1):c.142C>T (p.Gln48Ter) rs587778913
NM_000249.4(MLH1):c.1489dup (p.Arg497fs) rs63750855
NM_000249.4(MLH1):c.1731G>A (p.Ser577=) rs63751657
NM_000249.4(MLH1):c.2103+1dup rs2085487528
NM_000249.4(MLH1):c.381-75_454-739delinsTAAATC
NM_000249.4(MLH1):c.676C>T (p.Arg226Ter) rs63751615

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