ClinVar Miner

List of variants in gene MLH1 reported as pathogenic for Hereditary cancer-predisposing syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 152
Download table as spreadsheet
HGVS dbSNP
NM_000249.3(MLH1):c.(453+1_454-1)_(545+1_546-1)del
NM_000249.3(MLH1):c.-27C>A rs587779001
NM_000249.3(MLH1):c.1036del (p.Gln346fs) rs876659073
NM_000249.3(MLH1):c.1038G>A (p.Gln346=) rs63751715
NM_000249.3(MLH1):c.1046dup (p.Pro350fs) rs267607822
NM_000249.3(MLH1):c.1051G>T (p.Gly351Ter) rs1437454428
NM_000249.3(MLH1):c.1090del (p.Thr364fs) rs876659226
NM_000249.3(MLH1):c.1105dup (p.Ser369fs) rs1060500699
NM_000249.3(MLH1):c.112A>C (p.Asn38His) rs63750580
NM_000249.3(MLH1):c.1130dup (p.Val378fs) rs1553650741
NM_000249.3(MLH1):c.116+5G>C rs267607710
NM_000249.3(MLH1):c.117-2A>G rs267607712
NM_000249.3(MLH1):c.1190del (p.Leu397fs) rs63750749
NM_000249.3(MLH1):c.1210_1211del (p.Leu404fs) rs63751015
NM_000249.3(MLH1):c.1257_1273del (p.Ile419fs) rs786203893
NM_000249.3(MLH1):c.1276C>T (p.Gln426Ter) rs63750316
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.1362del (p.Thr455fs) rs267607821
NM_000249.3(MLH1):c.1378_1379GA[1] (p.Lys461fs) rs587778909
NM_000249.3(MLH1):c.1381A>T (p.Lys461Ter) rs63750540
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.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.1489dup (p.Arg497fs) rs63750855
NM_000249.3(MLH1):c.1522_1523del (p.Leu509fs) rs876658821
NM_000249.3(MLH1):c.1558+1G>A rs267607832
NM_000249.3(MLH1):c.1569del (p.Met524fs) rs1559574795
NM_000249.3(MLH1):c.156del (p.Glu53fs) rs63750028
NM_000249.3(MLH1):c.1578_1579dup (p.Asn527fs) rs1553657971
NM_000249.3(MLH1):c.1591del (p.Val531fs) rs1553658009
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.1668-1G>A rs267607845
NM_000249.3(MLH1):c.1680del (p.Tyr561fs) rs1553659334
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.174_175delinsT (p.Leu58fs) rs876660860
NM_000249.3(MLH1):c.1758dup (p.Met587fs) rs63749863
NM_000249.3(MLH1):c.1769T>G (p.Leu590Ter) rs1553662753
NM_000249.3(MLH1):c.1772_1775del (p.Asp591fs) rs63749868
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.1791G>A (p.Trp597Ter) rs1416171624
NM_000249.3(MLH1):c.1846_1848AAG[2] (p.Lys618del) rs63751247
NM_000249.3(MLH1):c.184C>T (p.Gln62Ter) rs63751428
NM_000249.3(MLH1):c.1855del (p.Ala619fs) rs63749986
NM_000249.3(MLH1):c.1858del (p.Glu620fs) rs786203456
NM_000249.3(MLH1):c.1877del (p.Phe626fs) rs63750152
NM_000249.3(MLH1):c.1883T>A (p.Leu628Ter) rs1553663159
NM_000249.3(MLH1):c.1890dup (p.Asp631Ter) rs786201990
NM_000249.3(MLH1):c.1923del (p.Leu641_Leu642insTer) rs1553663834
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.199G>A (p.Gly67Arg) rs63750206
NM_000249.3(MLH1):c.2006_2010del (p.Glu669fs) rs63750061
NM_000249.3(MLH1):c.200G>A (p.Gly67Glu) rs63749939
NM_000249.3(MLH1):c.201del (p.Ile68fs) rs587778968
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.2070_2071insTT (p.Ile691fs) rs876659681
NM_000249.3(MLH1):c.208-2A>C rs267607716
NM_000249.3(MLH1):c.2080dup (p.Glu694fs) rs1553664617
NM_000249.3(MLH1):c.2098C>T (p.Gln700Ter) rs1553664702
NM_000249.3(MLH1):c.2103+1G>T 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.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.2177_2178CA[2] (p.Ile728fs) rs267607898
NM_000249.3(MLH1):c.2194A>T (p.Lys732Ter) rs267607906
NM_000249.3(MLH1):c.2195_2198dup (p.His733fs) rs267607903
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.2246T>C (p.Leu749Pro) rs267607894
NM_000249.3(MLH1):c.2252_2253del (p.Lys751fs) rs267607901
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.252del (p.Lys84fs) rs876660822
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.306G>T (p.Glu102Asp) rs63751665
NM_000249.3(MLH1):c.307-2A>G rs267607732
NM_000249.3(MLH1):c.339del (p.Thr114fs) rs1553641295
NM_000249.3(MLH1):c.34dup (p.Asp12fs) rs1553637196
NM_000249.3(MLH1):c.350C>T (p.Thr117Met) rs63750781
NM_000249.3(MLH1):c.37G>T (p.Glu13Ter) rs587779008
NM_000249.3(MLH1):c.393_396del (p.Asp132fs) rs1559521039
NM_000249.3(MLH1):c.3G>A (p.Met1Ile) rs72481822
NM_000249.3(MLH1):c.454-1G>C rs193922370
NM_000249.3(MLH1):c.469dup (p.Tyr157fs) rs63751101
NM_000249.3(MLH1):c.47_53del (p.Val16fs) rs876658923
NM_000249.3(MLH1):c.497_498delinsC (p.Leu166fs) rs1553642718
NM_000249.3(MLH1):c.503del (p.Asn168fs) rs63749959
NM_000249.3(MLH1):c.542del (p.Gly181fs) rs1553642777
NM_000249.3(MLH1):c.544A>G (p.Arg182Gly) rs63750211
NM_000249.3(MLH1):c.545+3A>G rs267607760
NM_000249.3(MLH1):c.583A>T (p.Lys195Ter) rs863225383
NM_000249.3(MLH1):c.588+5G>A rs267607768
NM_000249.3(MLH1):c.588del (p.Lys196fs) rs63751653
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.677G>A (p.Arg226Gln) rs63751711
NM_000249.3(MLH1):c.678-2A>G rs587779035
NM_000249.3(MLH1):c.67G>T (p.Glu23Ter) rs63750823
NM_000249.3(MLH1):c.67del (p.Glu23fs) rs63750822
NM_000249.3(MLH1):c.691del (p.Ile231fs) rs876658339
NM_000249.3(MLH1):c.699T>A (p.Cys233Ter) rs764085979
NM_000249.3(MLH1):c.723_726AATG[1] (p.Asn243fs) rs267607787
NM_000249.3(MLH1):c.755C>A (p.Ser252Ter) rs63750198
NM_000249.3(MLH1):c.771del (p.Phe258fs) rs1553645301
NM_000249.3(MLH1):c.783dup (p.Ile262fs) rs1553645331
NM_000249.3(MLH1):c.790+1G>A rs267607789
NM_000249.3(MLH1):c.790+1delG rs267607798
NM_000249.3(MLH1):c.790+2dupT rs267607791
NM_000249.3(MLH1):c.791-2A>G rs267607794
NM_000249.3(MLH1):c.793C>A (p.Arg265Ser) rs63751194
NM_000249.3(MLH1):c.793C>T (p.Arg265Cys) rs63751194
NM_000249.3(MLH1):c.794_800del (p.Arg265fs) rs876660458
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.884G>A (p.Ser295Asn) rs63750144
NM_000249.3(MLH1):c.911del (p.Asp304fs) rs1553647969
NM_000249.3(MLH1):c.918del (p.Asn306fs) rs876660214
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.970del (p.Glu324fs) rs876658247
NM_000249.3(MLH1):c.971dup (p.Arg325fs) rs587781554
NM_000249.3(MLH1):c.982C>T (p.Gln328Ter) rs587779058
NM_000249.3(MLH1):c.984_997del (p.His329fs) rs587782265
NM_000249.3(MLH1):c.986A>C (p.His329Pro) rs63750710
NM_000249.3(MLH1):c.997_1000del (p.Lys333fs) rs1553648149

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.