ClinVar Miner

List of variants in gene MLH1 reported by Mayo Clinic Genetic Testing Laboratories,Mayo Clinic

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Gene type:
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Total variants: 110
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HGVS dbSNP
NM_000249.3(MLH1):c.*35_*37delCTT rs193922366
NM_000249.3(MLH1):c.-27C>A rs587779001
NM_000249.3(MLH1):c.-28A>G rs56198082
NM_000249.3(MLH1):c.-7C>T rs104894994
NM_000249.3(MLH1):c.1032del (p.Phe344fs) rs1553648225
NM_000249.3(MLH1):c.1039-23T>A rs749926534
NM_000249.3(MLH1):c.1039-24T>A rs1285179213
NM_000249.3(MLH1):c.1039-25T>A rs764852270
NM_000249.3(MLH1):c.1039-26T>A rs1360955428
NM_000249.3(MLH1):c.1039-27T>A rs9862158
NM_000249.3(MLH1):c.1039-29del rs746933807
NM_000249.3(MLH1):c.1039-78A>G rs11129748
NM_000249.3(MLH1):c.1039-8T>A rs193922367
NM_000249.3(MLH1):c.1039-8del rs57509953
NM_000249.3(MLH1):c.1153C>T (p.Arg385Cys) rs63750760
NM_000249.3(MLH1):c.116+5G>A rs267607710
NM_000249.3(MLH1):c.1165C>T (p.Arg389Trp) rs61751644
NM_000249.3(MLH1):c.116G>A (p.Cys39Tyr) rs63751701
NM_000249.3(MLH1):c.1172A>G (p.Gln391Arg) rs587782884
NM_000249.3(MLH1):c.1217G>A (p.Ser406Asn) rs41294980
NM_000249.3(MLH1):c.1258del (p.Ser420fs) rs863225373
NM_000249.3(MLH1):c.1321G>A (p.Ala441Thr) rs63750365
NM_000249.3(MLH1):c.1381A>T (p.Lys461Ter) rs63750540
NM_000249.3(MLH1):c.1459C>T (p.Arg487Ter) rs63749795
NM_000249.3(MLH1):c.1489dup (p.Arg497fs) rs63750855
NM_000249.3(MLH1):c.1558+14G>A rs41562513
NM_000249.3(MLH1):c.1558+22C>T rs863225374
NM_000249.3(MLH1):c.156del (p.Glu53fs) rs63750028
NM_000249.3(MLH1):c.1633A>G (p.Thr545Ala) rs267607840
NM_000249.3(MLH1):c.1668-139dup rs863225375
NM_000249.3(MLH1):c.1668-185T>C rs9858264
NM_000249.3(MLH1):c.1668-19A>G rs9876116
NM_000249.3(MLH1):c.1688_1689del (p.Ile563fs) rs863225376
NM_000249.3(MLH1):c.1719del (p.Leu574fs) rs863225377
NM_000249.3(MLH1):c.1731G>A (p.Ser577=) rs63751657
NM_000249.3(MLH1):c.1732-19T>A rs77120160
NM_000249.3(MLH1):c.1732-?_(*193_?)del
NM_000249.3(MLH1):c.1732-?_1896+?del
NM_000249.3(MLH1):c.1772_1775del (p.Asp591fs) rs63749868
NM_000249.3(MLH1):c.1778_1779del (p.Pro593fs) rs63750375
NM_000249.3(MLH1):c.1790G>A (p.Trp597Ter) rs63750604
NM_000249.3(MLH1):c.1790_1791delinsATCTGGACC (p.Trp597fs) rs863225378
NM_000249.3(MLH1):c.1820T>A (p.Leu607His) rs41295284
NM_000249.3(MLH1):c.1834_1847delinsT (p.Ile611_Val612insTer) rs863225379
NM_000249.3(MLH1):c.1846_1848AAG[2] (p.Lys618del) rs63751247
NM_000249.3(MLH1):c.1852A>G (p.Lys618Glu) rs35001569
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.1860dup (p.Met621fs) rs863225380
NM_000249.3(MLH1):c.1913_1926dup (p.Ile643delinsAspTyrProPheTer) rs587778958
NM_000249.3(MLH1):c.1918C>A (p.Pro640Thr) rs63749792
NM_000249.3(MLH1):c.194G>T (p.Gly65Val) rs63751465
NM_000249.3(MLH1):c.1959G>T (p.Leu653=) rs1800146
NM_000249.3(MLH1):c.1963A>G (p.Ile655Val) rs55907433
NM_000249.3(MLH1):c.1975C>T (p.Arg659Ter) rs63751310
NM_000249.3(MLH1):c.198C>T (p.Thr66=) rs61751642
NM_000249.3(MLH1):c.1990-121C>T rs2241031
NM_000249.3(MLH1):c.1990-2A>G rs267607883
NM_000249.3(MLH1):c.199G>A (p.Gly67Arg) rs63750206
NM_000249.3(MLH1):c.200G>A (p.Gly67Glu) rs63749939
NM_000249.3(MLH1):c.2041G>A (p.Ala681Thr) rs63750217
NM_000249.3(MLH1):c.2059del (p.Arg687fs) rs863225381
NM_000249.3(MLH1):c.207+1G>A rs267607718
NM_000249.3(MLH1):c.2091C>T (p.Leu697=) rs536488280
NM_000249.3(MLH1):c.2103+1G>A rs267607888
NM_000249.3(MLH1):c.210_212AGA[1] (p.Glu71del) rs63751642
NM_000249.3(MLH1):c.2135G>A (p.Trp712Ter) rs63750561
NM_000249.3(MLH1):c.2146G>A (p.Val716Met) rs35831931
NM_000249.3(MLH1):c.2152C>T (p.His718Tyr) rs2020873
NM_000249.3(MLH1):c.2177_2178CA[1] (p.His727fs) rs267607898
NM_000249.3(MLH1):c.2195_2198dup (p.His733fs) rs267607903
NM_000249.3(MLH1):c.2252_2253del (p.Lys751fs) rs267607901
NM_000249.3(MLH1):c.2266_2269dup (p.Ter757LeuextTer?) rs267607892
NM_000249.3(MLH1):c.277A>G (p.Ser93Gly) rs41295282
NM_000249.3(MLH1):c.293G>A (p.Gly98Asp) rs863225382
NM_000249.3(MLH1):c.298C>T (p.Arg100Ter) rs63751221
NM_000249.3(MLH1):c.304G>A (p.Glu102Lys) rs63750453
NM_000249.3(MLH1):c.306+5G>A rs267607735
NM_000249.3(MLH1):c.307-29C>A rs139620056
NM_000249.3(MLH1):c.307-?_380+?del
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.375A>G (p.Ala125=) rs1800144
NM_000249.3(MLH1):c.394G>C (p.Asp132His) rs28930073
NM_000249.3(MLH1):c.453+25A>G rs4647246
NM_000249.3(MLH1):c.453+79A>G rs4234259
NM_000249.3(MLH1):c.454-51T>C rs4647255
NM_000249.3(MLH1):c.474C>T (p.Asn158=) rs4647256
NM_000249.3(MLH1):c.503dup (p.Asn168fs) rs63749959
NM_000249.3(MLH1):c.545+20A>T rs121909453
NM_000249.3(MLH1):c.546-2A>G rs267607759
NM_000249.3(MLH1):c.583A>T (p.Lys195Ter) rs863225383
NM_000249.3(MLH1):c.588+11G>C rs4647258
NM_000249.3(MLH1):c.588+7T>C rs1553644066
NM_000249.3(MLH1):c.589-15C>T rs55658850
NM_000249.3(MLH1):c.589-?_677+?del
NM_000249.3(MLH1):c.637G>A (p.Val213Met) rs2308317
NM_000249.3(MLH1):c.655A>G (p.Ile219Val) rs1799977
NM_000249.3(MLH1):c.676C>T (p.Arg226Ter) rs63751615
NM_000249.3(MLH1):c.677+3A>G rs267607780
NM_000249.3(MLH1):c.677G>A (p.Arg226Gln) rs63751711
NM_000249.3(MLH1):c.682C>A (p.Leu228Met) rs751628735
NM_000249.3(MLH1):c.702G>A (p.Glu234=) rs35908749
NM_000249.3(MLH1):c.790+10A>G rs182733777
NM_000249.3(MLH1):c.793C>A (p.Arg265Ser) rs63751194
NM_000249.3(MLH1):c.793del (p.Arg265fs) rs863225384
NM_000249.3(MLH1):c.843A>C (p.Ala281=) rs146796765
NM_000249.3(MLH1):c.85G>T (p.Ala29Ser) rs63750656
NM_000249.3(MLH1):c.885-24T>A rs201594027
NM_000249.3(MLH1):c.977T>C (p.Val326Ala) rs63751049

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