ClinVar Miner

List of variants in gene MLH1 studied for Lynch syndrome I

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Total variants: 68
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HGVS dbSNP
NM_000249.3(MLH1):c.1038+51C>T rs55986674
NM_000249.3(MLH1):c.1039-8T>A rs193922367
NM_000249.3(MLH1):c.114C>A (p.Asn38Lys)
NM_000249.3(MLH1):c.1151T>A (p.Val384Asp) rs63750447
NM_000249.3(MLH1):c.1153C>T (p.Arg385Cys) rs63750760
NM_000249.3(MLH1):c.115T>C (p.Cys39Arg) rs587778890
NM_000249.3(MLH1):c.116G>A (p.Cys39Tyr) rs63751701
NM_000249.3(MLH1):c.116G>T (p.Cys39Phe) rs63751701
NM_000249.3(MLH1):c.117-1G>T
NM_000249.3(MLH1):c.1178T>C (p.Leu393Pro) rs786203413
NM_000249.3(MLH1):c.121G>C (p.Asp41His) rs267607713
NM_000249.3(MLH1):c.1321G>A (p.Ala441Thr) rs63750365
NM_000249.3(MLH1):c.1327A>C (p.Lys443Gln) rs34213726
NM_000249.3(MLH1):c.1558+14G>A rs41562513
NM_000249.3(MLH1):c.1649T>C (p.Leu550Pro) rs63750193
NM_000249.3(MLH1):c.1676T>G (p.Leu559Arg) rs63750059
NM_000249.3(MLH1):c.1823C>A (p.Ala608Asp) rs267607864
NM_000249.3(MLH1):c.1852_1853delinsGC (p.Lys618Ala) rs35502531
NM_000249.3(MLH1):c.1853A>C (p.Lys618Thr) rs63750449
NM_000249.3(MLH1):c.191A>G (p.Asn64Ser) rs63750952
NM_000249.3(MLH1):c.1943C>T (p.Pro648Leu) rs63750610
NM_000249.3(MLH1):c.1958T>G (p.Leu653Arg) rs63751202
NM_000249.3(MLH1):c.1959G>T (p.Leu653=) rs1800146
NM_000249.3(MLH1):c.1988A>C (p.Glu663Ala) rs63751682
NM_000249.3(MLH1):c.1989G>A (p.Glu663=) rs63751662
NM_000249.3(MLH1):c.1A>G (p.Met1Val) rs587778967
NM_000249.3(MLH1):c.2074T>C (p.Ser692Pro) rs587779957
NM_000249.3(MLH1):c.2103G>A (p.Gln701=) rs63750603
NM_000249.3(MLH1):c.2141G>A (p.Trp714Ter) rs63751022
NM_000249.3(MLH1):c.2152C>T (p.His718Tyr) rs2020873
NM_000249.3(MLH1):c.2152_2153CA[3] (p.Ile719fs) rs63750971
NM_000249.3(MLH1):c.2197C>T (p.His733Tyr) rs1553665846
NM_000249.3(MLH1):c.2236_2247del (p.Leu746_Leu749del)
NM_000249.3(MLH1):c.2252_2253del (p.Lys751fs) rs267607901
NM_000249.3(MLH1):c.2263A>G (p.Arg755Gly) rs267607900
NM_000249.3(MLH1):c.2265G>C (p.Arg755Ser) rs267607895
NM_000249.3(MLH1):c.238T>G (p.Phe80Val) rs63749990
NM_000249.3(MLH1):c.244A>G (p.Thr82Ala) rs587778998
NM_000249.3(MLH1):c.299G>C (p.Arg100Pro) rs63750266
NM_000249.3(MLH1):c.2T>C (p.Met1Thr) rs111052004
NM_000249.3(MLH1):c.2T>G (p.Met1Arg) rs111052004
NM_000249.3(MLH1):c.302G>A (p.Gly101Asp) rs267607727
NM_000249.3(MLH1):c.304G>A (p.Glu102Lys) rs63750453
NM_000249.3(MLH1):c.306+1G>A rs267607734
NM_000249.3(MLH1):c.306+2dup rs267607738
NM_000249.3(MLH1):c.306G>A (p.Glu102=) rs63751665
NM_000249.3(MLH1):c.350C>G (p.Thr117Arg) rs63750781
NM_000249.3(MLH1):c.350C>T (p.Thr117Met) rs63750781
NM_000249.3(MLH1):c.37G>A (p.Glu13Lys) rs587779008
NM_000249.3(MLH1):c.3G>A (p.Met1Ile) rs72481822
NM_000249.3(MLH1):c.453G>A (p.Thr151=) rs369521379
NM_000249.3(MLH1):c.474C>T (p.Asn158=) rs4647256
NM_000249.3(MLH1):c.55A>T (p.Ile19Phe) rs63750648
NM_000249.3(MLH1):c.588+11G>C rs4647258
NM_000249.3(MLH1):c.62C>T (p.Ala21Val) rs63750706
NM_000249.3(MLH1):c.655A>G (p.Ile219Val) rs1799977
NM_000249.3(MLH1):c.678-4A>G rs766711342
NM_000249.3(MLH1):c.790+5G>T rs267607771
NM_000249.3(MLH1):c.794G>C (p.Arg265Pro) rs63751448
NM_000249.3(MLH1):c.799_800delinsAG (p.Val267Arg) rs1085308058
NM_000249.3(MLH1):c.827T>G (p.Ile276Arg) rs1253275403
NM_000249.3(MLH1):c.923A>C (p.His308Pro) rs1559543768
NM_000249.3(MLH1):c.931A>G (p.Lys311Glu) rs876658657
NM_000249.3(MLH1):c.955G>A (p.Glu319Lys) rs63750796
NM_000249.3(MLH1):c.977T>C (p.Val326Ala) rs63751049
NM_000249.3(MLH1):c.988_990del (p.Ile330del) rs63751197
NM_000249.3(MLH1):c.[-27C>A;85G>T]
NM_000249.3:c.512_513insAlu

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