ClinVar Miner

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

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Gene type:
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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_000249.4(MLH1):c.207+1G>A rs267607718 0.00001
NM_000249.4(MLH1):c.1032del (p.Phe344fs) rs1553648225
NM_000249.4(MLH1):c.112A>T (p.Asn38Tyr) rs63750580
NM_000249.4(MLH1):c.1258del (p.Ser420fs) rs863225373
NM_000249.4(MLH1):c.1558+1G>A rs267607832
NM_000249.4(MLH1):c.156del (p.Glu53fs) rs63750028
NM_000249.4(MLH1):c.1719del (p.Leu574fs) rs863225377
NM_000249.4(MLH1):c.1834_1847delinsT (p.Ile611_Val612insTer) rs863225379
NM_000249.4(MLH1):c.1860dup (p.Met621fs) rs863225380
NM_000249.4(MLH1):c.1913_1926dup (p.Ile643delinsAspTyrProPheTer) rs587778958
NM_000249.4(MLH1):c.1990-2A>G rs267607883
NM_000249.4(MLH1):c.2059del (p.Arg687fs) rs863225381
NM_000249.4(MLH1):c.2101C>T (p.Gln701Ter) rs63750114
NM_000249.4(MLH1):c.2252_2253del (p.Lys751fs) rs267607901
NM_000249.4(MLH1):c.583A>T (p.Lys195Ter) rs863225383
NM_000249.4(MLH1):c.673dup (p.Ser225fs) rs1575469505

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