ClinVar Miner

List of variants in gene MLH1 reported as uncertain significance by Genetic Services Laboratory, University of Chicago

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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_000249.4(MLH1):c.-7C>T rs104894994 0.00115
NM_000249.4(MLH1):c.-28A>G rs56198082 0.00110
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.1964T>C (p.Ile655Thr) rs63751225 0.00010
NM_000249.4(MLH1):c.*4T>C rs750794400 0.00007
NM_000249.4(MLH1):c.1013A>G (p.Asn338Ser) rs63751467 0.00006
NM_000249.4(MLH1):c.207+12C>T rs121909450 0.00006
NM_000249.4(MLH1):c.2174G>A (p.Arg725His) rs566928243 0.00006
NM_000249.4(MLH1):c.52C>T (p.Arg18Cys) rs367654552 0.00004
NM_000249.4(MLH1):c.808A>G (p.Thr270Ala) rs371302926 0.00004
NM_000249.4(MLH1):c.9C>G (p.Phe3Leu) rs779759678 0.00004
NM_000249.4(MLH1):c.991G>A (p.Glu331Lys) rs550914672 0.00003
NM_000249.4(MLH1):c.116+8G>A rs904872305 0.00001
NM_000249.4(MLH1):c.1016C>T (p.Ser339Phe) rs2125854561
NM_000249.4(MLH1):c.1088CAA[1] (p.Thr364del) rs876660192
NM_000249.4(MLH1):c.1486C>T (p.Pro496Ser) rs2083708398
NM_000249.4(MLH1):c.1489C>G (p.Arg497Gly) rs200830026
NM_000249.4(MLH1):c.1559-11T>C rs730881750
NM_000249.4(MLH1):c.1832TTG[1] (p.Val612del) rs63750486
NM_000249.4(MLH1):c.2084C>T (p.Ser695Leu) rs63749995
NM_000249.4(MLH1):c.2110G>A (p.Val704Met) rs587781811
NM_000249.4(MLH1):c.2191C>T (p.Pro731Ser) rs876661188
NM_000249.4(MLH1):c.36C>G (p.Asp12Glu) rs587782181
NM_000249.4(MLH1):c.37G>A (p.Glu13Lys) rs587779008
NM_000249.4(MLH1):c.424T>C (p.Cys142Arg) rs780232692
NM_000249.4(MLH1):c.46G>C (p.Val16Leu) rs776643257
NM_000249.4(MLH1):c.489A>G (p.Arg163=) rs2125784050
NM_000249.4(MLH1):c.59C>T (p.Ala20Val) rs1391455682
NM_000249.4(MLH1):c.884+9G>C rs1559539862

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