ClinVar Miner

List of variants in gene MLH1 reported as pathogenic by Ambry Genetics

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Gene type:
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Total variants: 206
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HGVS dbSNP
NM_000249.3(MLH1):c.-27C>A rs587779001
NM_000249.3(MLH1):c.1038G>A (p.Gln346=) rs63751715
NM_000249.3(MLH1):c.1051G>T (p.Gly351Ter) rs1437454428
NM_000249.3(MLH1):c.1090del (p.Thr364fs) rs876659226
NM_000249.3(MLH1):c.112A>C (p.Asn38His) rs63750580
NM_000249.3(MLH1):c.1130dup (p.Val378fs) rs1553650741
NM_000249.3(MLH1):c.117-2A>G rs267607712
NM_000249.3(MLH1):c.1246A>T (p.Lys416Ter) rs267607823
NM_000249.3(MLH1):c.1257_1273del (p.Ile419fs) rs786203893
NM_000249.3(MLH1):c.1297G>T (p.Glu433Ter) rs63750443
NM_000249.3(MLH1):c.1304_1305delinsTGCTGAAGTGGCT (p.Pro435fs) rs1553651299
NM_000249.3(MLH1):c.1315G>T (p.Glu439Ter) rs1302248679
NM_000249.3(MLH1):c.1400del (p.Ser467fs) rs1064795515
NM_000249.3(MLH1):c.1401del (p.Ser467fs) rs587781892
NM_000249.3(MLH1):c.1409+1G>A rs267607825
NM_000249.3(MLH1):c.1410-2_1410-1delinsCC rs1559558071
NM_000249.3(MLH1):c.1411_1414delAAGA rs63751592
NM_000249.3(MLH1):c.1456dup (p.Ser486fs) rs878853778
NM_000249.3(MLH1):c.1459C>T (p.Arg487Ter) rs63749795
NM_000249.3(MLH1):c.1489_1490insCG (p.Arg497fs) rs1553653037
NM_000249.3(MLH1):c.1522_1523del (p.Leu509fs) rs876658821
NM_000249.3(MLH1):c.1546C>T (p.Gln516Ter) rs1553653195
NM_000249.3(MLH1):c.1558+1G>A rs267607832
NM_000249.3(MLH1):c.1578_1579dup (p.Asn527fs) rs1553657971
NM_000249.3(MLH1):c.1591del (p.Val531fs) rs1553658009
NM_000249.3(MLH1):c.1601del (p.Val534fs) rs1559575143
NM_000249.3(MLH1):c.1613G>A (p.Trp538Ter) rs587778933
NM_000249.3(MLH1):c.1656del (p.Thr553fs) rs876660589
NM_000249.3(MLH1):c.1667+1G>A rs1434898623
NM_000249.3(MLH1):c.1680del (p.Tyr561fs) rs1553659334
NM_000249.3(MLH1):c.1683C>G (p.Tyr561Ter) rs63751393
NM_000249.3(MLH1):c.1731+1G>A rs267607853
NM_000249.3(MLH1):c.1731+4A>G rs1553659500
NM_000249.3(MLH1):c.1731G>A (p.Ser577=) rs63751657
NM_000249.3(MLH1):c.1746del (p.Phe583fs) rs876659068
NM_000249.3(MLH1):c.1790G>A (p.Trp597Ter) rs63750604
NM_000249.3(MLH1):c.1791G>A (p.Trp597Ter) rs1416171624
NM_000249.3(MLH1):c.184C>T (p.Gln62Ter) rs63751428
NM_000249.3(MLH1):c.187G>A (p.Asp63Asn) rs63750850
NM_000249.3(MLH1):c.1883T>A (p.Leu628Ter) rs1553663159
NM_000249.3(MLH1):c.1890dup (p.Asp631Ter) rs786201990
NM_000249.3(MLH1):c.1896+1G>T rs267607867
NM_000249.3(MLH1):c.1896G>A (p.Glu632=) rs63751632
NM_000249.3(MLH1):c.1918C>T (p.Pro640Ser) rs63749792
NM_000249.3(MLH1):c.1942C>T (p.Pro648Ser) rs63750899
NM_000249.3(MLH1):c.1943C>T (p.Pro648Leu) rs63750610
NM_000249.3(MLH1):c.1975C>T (p.Arg659Ter) rs63751310
NM_000249.3(MLH1):c.1976G>T (p.Arg659Leu) rs63749900
NM_000249.3(MLH1):c.1990-1G>A rs267607884
NM_000249.3(MLH1):c.1990-1G>C rs267607884
NM_000249.3(MLH1):c.200G>A (p.Gly67Glu) rs63749939
NM_000249.3(MLH1):c.2032A>T (p.Lys678Ter) rs1553664436
NM_000249.3(MLH1):c.2035G>T (p.Glu679Ter) rs587778971
NM_000249.3(MLH1):c.2038T>C (p.Cys680Arg) rs63750809
NM_000249.3(MLH1):c.2040C>A (p.Cys680Ter) rs63749867
NM_000249.3(MLH1):c.2041G>A (p.Ala681Thr) rs63750217
NM_000249.3(MLH1):c.2044_2045del (p.Met682fs) rs878853785
NM_000249.3(MLH1):c.2059C>T (p.Arg687Trp) rs63751275
NM_000249.3(MLH1):c.207+1G>A rs267607718
NM_000249.3(MLH1):c.207+2T>C rs267607722
NM_000249.3(MLH1):c.2070C>G (p.Tyr690Ter) rs550890395
NM_000249.3(MLH1):c.2070_2071insTT (p.Ile691fs) rs876659681
NM_000249.3(MLH1):c.208-2A>C rs267607716
NM_000249.3(MLH1):c.208-3C>G rs267607720
NM_000249.3(MLH1):c.2098C>T (p.Gln700Ter) rs1553664702
NM_000249.3(MLH1):c.2103G>C (p.Gln701His) rs63750603
NM_000249.3(MLH1):c.210_213delAGAA rs267607723
NM_000249.3(MLH1):c.2141G>A (p.Trp714Ter) rs63751022
NM_000249.3(MLH1):c.2148_2168del21ins5
NM_000249.3(MLH1):c.2177_2178CA[1] (p.His727fs) rs267607898
NM_000249.3(MLH1):c.2194A>T (p.Lys732Ter) rs267607906
NM_000249.3(MLH1):c.2206G>T (p.Glu736Ter) rs876659608
NM_000249.3(MLH1):c.2224C>T (p.Gln742Ter) rs587778992
NM_000249.3(MLH1):c.2236dup (p.Leu746fs) rs1553665977
NM_000249.3(MLH1):c.2246T>C (p.Leu749Pro) rs267607894
NM_000249.3(MLH1):c.229T>C (p.Cys77Arg) rs63749859
NM_000249.3(MLH1):c.230G>A (p.Cys77Tyr) rs63750437
NM_000249.3(MLH1):c.245C>T (p.Thr82Ile) rs63750005
NM_000249.3(MLH1):c.272T>G (p.Leu91Ter) rs63751137
NM_000249.3(MLH1):c.298C>T (p.Arg100Ter) rs63751221
NM_000249.3(MLH1):c.306+5G>A rs267607735
NM_000249.3(MLH1):c.306G>T (p.Glu102Asp) rs63751665
NM_000249.3(MLH1):c.307-2A>G rs267607732
NM_000249.3(MLH1):c.320T>G (p.Ile107Arg) rs63750507
NM_000249.3(MLH1):c.34dup (p.Asp12fs) rs1553637196
NM_000249.3(MLH1):c.37G>T (p.Glu13Ter) rs587779008
NM_000249.3(MLH1):c.380+1G>A rs267607745
NM_000249.3(MLH1):c.381-1G>A rs267607744
NM_000249.3(MLH1):c.3G>A (p.Met1Ile) rs72481822
NM_000249.3(MLH1):c.454-1G>C rs193922370
NM_000249.3(MLH1):c.454-2A>G rs267607753
NM_000249.3(MLH1):c.544A>G (p.Arg182Gly) rs63750211
NM_000249.3(MLH1):c.545+3A>G rs267607760
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+2T>A rs587779024
NM_000249.3(MLH1):c.588+5G>A rs267607768
NM_000249.3(MLH1):c.589-2A>G rs267607767
NM_000249.3(MLH1):c.589C>T (p.Gln197Ter) rs1553644123
NM_000249.3(MLH1):c.676C>T (p.Arg226Ter) rs63751615
NM_000249.3(MLH1):c.677+3A>G rs267607780
NM_000249.3(MLH1):c.677+5G>A rs587779034
NM_000249.3(MLH1):c.678-2A>G rs587779035
NM_000249.3(MLH1):c.731G>A (p.Gly244Asp) rs63750303
NM_000249.3(MLH1):c.755C>A (p.Ser252Ter) rs63750198
NM_000249.3(MLH1):c.790+1G>A rs267607789
NM_000249.3(MLH1):c.790+1del rs267607798
NM_000249.3(MLH1):c.790+2T>A rs267607790
NM_000249.3(MLH1):c.790+2dup rs267607791
NM_000249.3(MLH1):c.791-2A>G rs267607794
NM_000249.3(MLH1):c.791-2A>T rs267607794
NM_000249.3(MLH1):c.793C>A (p.Arg265Ser) rs63751194
NM_000249.3(MLH1):c.83C>T (p.Pro28Leu) rs63750792
NM_000249.3(MLH1):c.85G>T (p.Ala29Ser) rs63750656
NM_000249.3(MLH1):c.86C>G (p.Ala29Gly) rs63750216
NM_000249.3(MLH1):c.883A>G (p.Ser295Gly) rs63751598
NM_000249.3(MLH1):c.884+3A>G rs267607803
NM_000249.3(MLH1):c.884+4A>G rs267607777
NM_000249.3(MLH1):c.884G>A (p.Ser295Asn) rs63750144
NM_000249.3(MLH1):c.955G>T (p.Glu319Ter) rs63750796
NM_000249.3(MLH1):c.958G>T (p.Glu320Ter) rs1553648040
NM_000249.3(MLH1):c.970G>T (p.Glu324Ter) rs1553648068
NM_000249.3(MLH1):c.971dup (p.Arg325fs) rs587781554
NM_000249.3(MLH1):c.982C>T (p.Gln328Ter) rs587779058
NM_000249.3(MLH1):c.986A>C (p.His329Pro) rs63750710
NM_000249.3(MLH1):c.997_1000del (p.Lys333fs) rs1553648149
NM_000249.4(MLH1):c.1023del (p.Met342fs) rs63749837
NM_000249.4(MLH1):c.1230_1232delinsTG (p.Ile411fs) rs1575536219
NM_000249.4(MLH1):c.1233_1254dup (p.Ile419delinsCysHisArgGlyTer) rs1575536254
NM_000249.4(MLH1):c.1261_1262delinsC (p.Ser421fs) rs1575536698
NM_000249.4(MLH1):c.1276C>T (p.Gln426Ter) rs63750316
NM_000249.4(MLH1):c.1342G>T (p.Glu448Ter) rs1575537933
NM_000249.4(MLH1):c.1381A>T (p.Lys461Ter) rs63750540
NM_000249.4(MLH1):c.1423del (p.Glu475fs) rs1575552157
NM_000249.4(MLH1):c.1502_1503delinsA (p.Ile501fs) rs1553653084
NM_000249.4(MLH1):c.155_158del (p.Lys52fs) rs587778923
NM_000249.4(MLH1):c.1595del (p.Gly532fs) rs1575594377
NM_000249.4(MLH1):c.1668-1G>A rs267607845
NM_000249.4(MLH1):c.1846_1848AAG[2] (p.Lys618del) rs63751247
NM_000249.4(MLH1):c.1853del (p.Lys618fs) rs1060500687
NM_000249.4(MLH1):c.1868del (p.Ala623fs) rs1575622163
NM_000249.4(MLH1):c.1884_1888del (p.Leu628fs) rs63751639
NM_000249.4(MLH1):c.199G>A (p.Gly67Arg) rs63750206
NM_000249.4(MLH1):c.2071_2072insG (p.Ile691fs) rs1575632112
NM_000249.4(MLH1):c.2077del (p.Glu693fs) rs1575632215
NM_000249.4(MLH1):c.208-5_262del rs1575413885
NM_000249.4(MLH1):c.2148_2149del (p.Glu717fs) rs1575639851
NM_000249.4(MLH1):c.237del (p.Arg79fs) rs1575414387
NM_000249.4(MLH1):c.290dup (p.Tyr97Ter) rs1575414904
NM_000249.4(MLH1):c.350C>T (p.Thr117Met) rs63750781
NM_000249.4(MLH1):c.356_357insT (p.Ala120fs) rs1575428643
NM_000249.4(MLH1):c.453+2_453+7delinsGATC rs1575441094
NM_000249.4(MLH1):c.460del (p.Asp154fs) rs1575448385
NM_000249.4(MLH1):c.526del (p.Ile176fs) rs1575449093
NM_000249.4(MLH1):c.545+2T>C rs1575449402
NM_000249.4(MLH1):c.54del (p.Ile19fs) rs1575376414
NM_000249.4(MLH1):c.673dup (p.Ser225fs) rs1575469505
NM_000249.4(MLH1):c.677G>A (p.Arg226Gln) rs63751711
NM_000249.4(MLH1):c.677G>T (p.Arg226Leu) rs63751711
NM_000249.4(MLH1):c.688G>T (p.Glu230Ter) rs1466223609
NM_000249.4(MLH1):c.755C>G (p.Ser252Ter) rs63750198
NM_000249.4(MLH1):c.793C>T (p.Arg265Cys) rs63751194
NM_001167617.2(MLH1):c.-116_-115delinsT rs876660860
NM_001167617.2(MLH1):c.-134del rs63750028
NM_001167617.2(MLH1):c.-22del rs1060500688
NM_001167617.2(MLH1):c.-38del rs876660822
NM_001167617.2(MLH1):c.-450del rs63750822
NM_001167617.2(MLH1):c.-470_-464del rs876658923
NM_001167617.2(MLH1):c.-80_-78AGA[1] rs63751642
NM_001167617.2(MLH1):c.-89del rs587778968
NM_001167617.2(MLH1):c.1084_1085GA[1] (p.Lys363fs) rs587778909
NM_001167617.2(MLH1):c.1195del (p.Arg399fs) rs63750855
NM_001167617.2(MLH1):c.1195dup (p.Arg399fs) rs63750855
NM_001167617.2(MLH1):c.1260dup (p.Glu421Ter) rs63751689
NM_001167617.2(MLH1):c.1883_1884CA[2] (p.Ile630fs) rs267607898
NM_001167617.2(MLH1):c.1901_1904dup (p.His635fs) rs267607903
NM_001167617.2(MLH1):c.1958_1959del (p.Lys653fs) rs267607901
NM_001167617.2(MLH1):c.896del (p.Leu299fs) rs63750749
NM_001167617.2(MLH1):c.916_917del (p.Leu306fs) rs63751015
NM_001167618.2(MLH1):c.-136del rs63751653
NM_001167618.2(MLH1):c.-182del rs1553642777
NM_001167618.2(MLH1):c.-1_3AATG[1] (p.Asn2fs) rs267607787
NM_001167618.2(MLH1):c.-320_-317del rs587779014
NM_001167618.2(MLH1):c.-33del rs876658339
NM_001167618.2(MLH1):c.-385del rs1553641295
NM_001258271.1(MLH1):c.1896+1237_1896+1241del rs63750061
NM_001258271.1(MLH1):c.1896+1311dup rs1553664617
NM_001258271.1(MLH1):c.1896+860del rs1553663834
NM_001354621.1(MLH1):c.-106del rs876660214
NM_001354621.1(MLH1):c.-113del rs1553647969
NM_001354621.1(MLH1):c.-139-2801_-139-2795del rs876660458
NM_001354621.1(MLH1):c.-13dup rs63750677
NM_001354621.1(MLH1):c.-140+2410del rs1064793172
NM_001354621.1(MLH1):c.-140+2426del rs1553645301
NM_001354621.1(MLH1):c.-140+2438dup rs1553645331
NM_001354621.1(MLH1):c.-40_-27del rs587782265
NM_001354621.1(MLH1):c.-54del rs876658247
NM_001354624.1(MLH1):c.-29dup rs267607822
NM_001354624.1(MLH1):c.-36-5176del rs876659073
NM_001354630.1(MLH1):c.1732-853del rs63750152
NM_001354630.1(MLH1):c.1732-872del rs786203456
NM_001354630.1(MLH1):c.1732-875del rs63749986
NM_001354630.1(MLH1):c.1732-940_1732-939delinsATCTGGACC rs863225378
NM_001354630.1(MLH1):c.1732-951AG[2] rs63750035
NM_001354630.1(MLH1):c.1732-958_1732-955del rs63749868
NM_001354630.1(MLH1):c.1732-972dup rs63749863

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