ClinVar Miner

List of variants in gene MLH1 reported by St. Jude Molecular Pathology, St. Jude Children's Research Hospital

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_000249.4(MLH1):c.1166G>A (p.Arg389Gln) rs63750361 0.00020
NM_000249.4(MLH1):c.626A>G (p.Asn209Ser) rs150478207 0.00011
NM_000249.4(MLH1):c.453G>A (p.Thr151=) rs369521379 0.00006
NM_000249.4(MLH1):c.1154G>A (p.Arg385His) rs63750430 0.00005
NM_000249.4(MLH1):c.1633A>G (p.Thr545Ala) rs267607840 0.00004
NM_000249.4(MLH1):c.9C>G (p.Phe3Leu) rs779759678 0.00004
NM_000249.4(MLH1):c.1165C>T (p.Arg389Trp) rs61751644 0.00003
NM_000249.4(MLH1):c.925C>T (p.Pro309Ser) rs267607808 0.00002
NM_000249.4(MLH1):c.2059C>T (p.Arg687Trp) rs63751275 0.00001
NM_000249.4(MLH1):c.2060G>A (p.Arg687Gln) rs587781310 0.00001
NM_000249.4(MLH1):c.2242G>C (p.Asp748His) rs374380262 0.00001
NM_000249.4(MLH1):c.1129A>G (p.Lys377Glu) rs2083402714
NM_000249.4(MLH1):c.1381A>T (p.Lys461Ter) rs63750540
NM_000249.4(MLH1):c.1420C>G (p.Arg474Gly) rs147939838
NM_000249.4(MLH1):c.1667+4A>G rs983986337
NM_000249.4(MLH1):c.1852_1853delinsGC (p.Lys618Ala) rs35502531
NM_000249.4(MLH1):c.2087C>T (p.Thr696Ile) rs868502951

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