ClinVar Miner

List of variants in gene MLH1 reported as uncertain significance by University of Washington Department of Laboratory Medicine, University of Washington

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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_000249.4(MLH1):c.1558+5G>A rs199935667 0.00008
NM_000249.4(MLH1):c.1379A>C (p.Glu460Ala) rs202038499 0.00007
NM_000249.4(MLH1):c.2213G>A (p.Gly738Glu) rs148317871 0.00007
NM_000249.4(MLH1):c.2174G>A (p.Arg725His) rs566928243 0.00006
NM_000249.4(MLH1):c.453G>A (p.Thr151=) rs369521379 0.00006
NM_000249.4(MLH1):c.955G>A (p.Glu319Lys) rs63750796 0.00006
NM_000249.4(MLH1):c.1153C>T (p.Arg385Cys) rs63750760 0.00005
NM_000249.4(MLH1):c.299G>A (p.Arg100Gln) rs63750266 0.00004
NM_000249.4(MLH1):c.945C>G (p.His315Gln) rs587779959 0.00004
NM_000249.4(MLH1):c.1165C>T (p.Arg389Trp) rs61751644 0.00003
NM_000249.4(MLH1):c.482C>T (p.Thr161Met) rs763992299 0.00002
NM_000249.4(MLH1):c.1103C>T (p.Ser368Leu) rs201673334 0.00001
NM_000249.4(MLH1):c.1558+4C>T rs531873434 0.00001
NM_000249.4(MLH1):c.1897-7C>T rs373078652 0.00001
NM_000249.3(MLH1):c.1668-?_2103+?dup
NM_000249.3(MLH1):c.2104_2105delAG rs63751651
NM_000249.4(MLH1):c.139A>G (p.Ile47Val) rs1559505924
NM_000249.4(MLH1):c.1420C>T (p.Arg474Trp) rs147939838
NM_000249.4(MLH1):c.1668-5T>G rs1559578408
NM_000249.4(MLH1):c.1731+1G>C rs267607853
NM_000249.4(MLH1):c.176T>A (p.Ile59Asn) rs1559506199
NM_000249.4(MLH1):c.1889T>A (p.Ile630Asn) rs1559588836
NM_000249.4(MLH1):c.1925T>A (p.Leu642Gln) rs1559590916
NM_000249.4(MLH1):c.1997G>C (p.Trp666Ser) rs886039424
NM_000249.4(MLH1):c.2040C>T (p.Cys680=) rs63749867
NM_000249.4(MLH1):c.2054C>A (p.Ser685Tyr) rs1064796101
NM_000249.4(MLH1):c.415C>G (p.Pro139Ala) rs779562531
NM_000249.4(MLH1):c.731G>T (p.Gly244Val) rs63750303
NM_000249.4(MLH1):c.790+4A>T rs267607786
NM_000249.4(MLH1):c.835G>C (p.Val279Leu) rs1559539382

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