ClinVar Miner

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

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Total variants: 13
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NM_000179.3(MSH6):c.1372C>A (p.His458Asn)
NM_000179.3(MSH6):c.1615C>T rs1553412999
NM_000179.3(MSH6):c.1730G>A (p.Arg577His) rs376220212
NM_000179.3(MSH6):c.2555AGA[2] (p.Lys854del) rs587782858
NM_000249.3(MLH1):c.1667G>A (p.Ser556Asn) rs63751596
NM_000249.3(MLH1):c.790+4A>C rs267607786
NM_000249.3(MLH1):c.911A>T (p.Asp304Val) rs63750993
NM_000249.4(MLH1):c.152T>A (p.Val51Asp)
NM_000249.4(MLH1):c.1668T>G (p.Ser556Arg)
NM_000249.4(MLH1):c.647T>A (p.Ile216Asn)
NM_000249.4(MLH1):c.677G>T (p.Arg226Leu) rs63751711
NM_000251.2(MSH2):c.1076G>C (p.Arg359Thr) rs63751604
NM_000251.3(MSH2):c.2228C>T rs63751155

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