ClinVar Miner

List of variants in gene MLH1 reported as likely pathogenic by Constitutional Genetics Lab, Leon Berard Cancer Center

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000249.4(MLH1):c.152T>A (p.Val51Asp) rs1553638767
NM_000249.4(MLH1):c.1667G>A (p.Ser556Asn) rs63751596
NM_000249.4(MLH1):c.1668T>G (p.Ser556Arg) rs1323236841
NM_000249.4(MLH1):c.647T>A (p.Ile216Asn) rs267607776
NM_000249.4(MLH1):c.677G>T (p.Arg226Leu) rs63751711
NM_000249.4(MLH1):c.790+4A>C rs267607786
NM_000249.4(MLH1):c.911A>T (p.Asp304Val) rs63750993

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