ClinVar Miner

List of variants in gene MLH1 reported as likely pathogenic by Mayo Clinic Genetic Testing Laboratories,Mayo Clinic

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Gene type:
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Total variants: 12
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NM_000249.3(MLH1):c.1032delC (p.Phe344Leufs) rs1553648225
NM_000249.3(MLH1):c.1258delT (p.Ser420Leufs) rs863225373
NM_000249.3(MLH1):c.156delA (p.Glu53Argfs) rs63750028
NM_000249.3(MLH1):c.1719delT (p.Leu574Serfs) rs863225377
NM_000249.3(MLH1):c.1834_1847delGTTGAGTTTCTGAAinsT (p.Val612Terfs) rs863225379
NM_000249.3(MLH1):c.1860dupG (p.Met621Aspfs) rs863225380
NM_000249.3(MLH1):c.1913_1926dupGATTACCCCTTCTG (p.Ile643Aspfs) rs587778958
NM_000249.3(MLH1):c.1990-2A>G rs267607883
NM_000249.3(MLH1):c.2059delC (p.Arg687Glyfs) rs863225381
NM_000249.3(MLH1):c.207+1G>A rs267607718
NM_000249.3(MLH1):c.2252_2253delAA (p.Lys751Serfs) rs267607901
NM_000249.3(MLH1):c.583A>T (p.Lys195Ter) rs863225383

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