ClinVar Miner

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

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Gene type:
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Total variants: 82
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HGVS dbSNP gnomAD frequency
NM_000249.4(MLH1):c.791-559C>T rs4647275 0.01654
NM_000249.4(MLH1):c.1558+4253G>A rs115873903 0.01478
NM_000249.4(MLH1):c.1558+4248C>T rs71328164 0.00978
NM_000249.4(MLH1):c.791-1322T>A rs4647271 0.00852
NM_000249.4(MLH1):c.380+164A>G rs4647235 0.00553
NM_000249.4(MLH1):c.307-29C>A rs139620056 0.00398
NM_000249.4(MLH1):c.677+603G>T rs188174578 0.00277
NM_000249.4(MLH1):c.885-24T>A rs201594027 0.00164
NM_000249.4(MLH1):c.2103+713A>G rs145314934 0.00139
NM_000249.4(MLH1):c.1558+4410G>A rs183870059 0.00021
NM_000249.4(MLH1):c.117-824A>C rs572499444 0.00013
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.1558+4409C>T rs869312591 0.00006
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.791-608T>G rs869312592 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.1474G>A (p.Ala492Thr) rs63751145 0.00004
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.117-1371A>G rs535861849 0.00003
NM_000249.4(MLH1):c.1668-354G>T rs564073036 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.1732-?_(*193_?)del
NM_000249.3(MLH1):c.2104_2105delAG rs63751651
NM_000249.4(MLH1):c.100G>A (p.Glu34Lys) rs1559500884
NM_000249.4(MLH1):c.1039-2A>G rs267607815
NM_000249.4(MLH1):c.109G>A (p.Glu37Lys) rs63751012
NM_000249.4(MLH1):c.109G>C (p.Glu37Gln) rs63751012
NM_000249.4(MLH1):c.113A>C (p.Asn38Thr) rs587778888
NM_000249.4(MLH1):c.1267A>G (p.Arg423Gly) rs1392665848
NM_000249.4(MLH1):c.131C>A (p.Ser44Tyr) rs63751109
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.1558+1857G>C rs549331368
NM_000249.4(MLH1):c.1558+4045G>C rs141842561
NM_000249.4(MLH1):c.1668-1G>A rs267607845
NM_000249.4(MLH1):c.1668-5T>G rs1559578408
NM_000249.4(MLH1):c.1721T>C (p.Leu574Pro) rs63751608
NM_000249.4(MLH1):c.1731+1G>C rs267607853
NM_000249.4(MLH1):c.1731+2T>C rs267607856
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.1960C>T (p.Pro654Ser) rs1559591314
NM_000249.4(MLH1):c.1979T>C (p.Leu660Pro) rs1559591546
NM_000249.4(MLH1):c.1989+5G>C rs267607878
NM_000249.4(MLH1):c.1997G>C (p.Trp666Ser) rs886039424
NM_000249.4(MLH1):c.199G>A (p.Gly67Arg) rs63750206
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.207+5G>C rs587781518
NM_000249.4(MLH1):c.208-3C>G rs267607720
NM_000249.4(MLH1):c.2104-1G>A rs587778978
NM_000249.4(MLH1):c.25_26delinsTA (p.Arg9Ter) rs869312767
NM_000249.4(MLH1):c.350C>T (p.Thr117Met) rs63750781
NM_000249.4(MLH1):c.380+1G>T rs267607745
NM_000249.4(MLH1):c.3G>T (p.Met1Ile) rs72481822
NM_000249.4(MLH1):c.415C>G (p.Pro139Ala) rs779562531
NM_000249.4(MLH1):c.453+2T>G rs267607751
NM_000249.4(MLH1):c.545G>C (p.Arg182Thr) rs587779021
NM_000249.4(MLH1):c.546-40_546-39insC rs869312874
NM_000249.4(MLH1):c.589-2A>C rs267607767
NM_000249.4(MLH1):c.678-1G>A rs267607784
NM_000249.4(MLH1):c.716C>T (p.Ala239Val) rs1559534371
NM_000249.4(MLH1):c.731G>T (p.Gly244Val) rs63750303
NM_000249.4(MLH1):c.790+32C>G rs767546883
NM_000249.4(MLH1):c.790+3A>T rs267607792
NM_000249.4(MLH1):c.790+4A>T rs267607786
NM_000249.4(MLH1):c.790+5G>A rs267607771
NM_000249.4(MLH1):c.793C>A (p.Arg265Ser) rs63751194
NM_000249.4(MLH1):c.793_794delinsGT (p.Arg265Val) rs1559539068
NM_000249.4(MLH1):c.835G>C (p.Val279Leu) rs1559539382
NM_000249.4(MLH1):c.836T>G (p.Val279Gly) rs1553646683

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