ClinVar Miner

List of variants in gene MLH1 reported by Department of Pathology and Laboratory Medicine, Sinai Health System

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 264
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000249.4(MLH1):c.1668-19A>G rs9876116 0.41821
NM_000249.4(MLH1):c.655A>G (p.Ile219Val) rs1799977 0.23048
NM_000249.4(MLH1):c.1558+14G>A rs41562513 0.05554
NM_000249.4(MLH1):c.2152C>T (p.His718Tyr) rs2020873 0.02345
NM_000249.4(MLH1):c.474C>T (p.Asn158=) rs4647256 0.01161
NM_000249.4(MLH1):c.1039-8T>A rs193922367 0.01153
NM_000249.4(MLH1):c.588+11G>C rs4647258 0.00993
NM_000249.4(MLH1):c.1959G>T (p.Leu653=) rs1800146 0.00913
NM_000249.4(MLH1):c.637G>A (p.Val213Met) rs2308317 0.00818
NM_000249.4(MLH1):c.589-15C>T rs55658850 0.00582
NM_000249.4(MLH1):c.1852A>G (p.Lys618Glu) rs35001569 0.00399
NM_000249.4(MLH1):c.307-29C>A rs139620056 0.00398
NM_000249.4(MLH1):c.1963A>G (p.Ile655Val) rs55907433 0.00297
NM_000249.4(MLH1):c.790+10A>G rs182733777 0.00188
NM_000249.4(MLH1):c.2146G>A (p.Val716Met) rs35831931 0.00143
NM_000249.4(MLH1):c.-7C>T rs104894994 0.00115
NM_000249.4(MLH1):c.-28A>G rs56198082 0.00110
NM_000249.4(MLH1):c.1217G>A (p.Ser406Asn) rs41294980 0.00087
NM_000249.4(MLH1):c.1151T>A (p.Val384Asp) rs63750447 0.00077
NM_000249.4(MLH1):c.375A>G (p.Ala125=) rs1800144 0.00062
NM_000249.4(MLH1):c.702G>A (p.Glu234=) rs35908749 0.00041
NM_000249.4(MLH1):c.198C>T (p.Thr66=) rs61751642 0.00040
NM_000249.4(MLH1):c.1166G>A (p.Arg389Gln) rs63750361 0.00020
NM_000249.4(MLH1):c.394G>C (p.Asp132His) rs28930073 0.00019
NM_000249.4(MLH1):c.2101C>A (p.Gln701Lys) rs63750114 0.00016
NM_000249.4(MLH1):c.65G>C (p.Gly22Ala) rs41295280 0.00016
NM_000249.4(MLH1):c.1820T>A (p.Leu607His) rs41295284 0.00015
NM_000249.4(MLH1):c.2001C>T (p.Asp667=) rs63750014 0.00014
NM_000249.4(MLH1):c.803A>G (p.Glu268Gly) rs63750650 0.00014
NM_000249.4(MLH1):c.843A>C (p.Ala281=) rs146796765 0.00012
NM_000249.3(MLH1):c.-42C>T rs41285097 0.00009
NM_000249.4(MLH1):c.1808C>G (p.Pro603Arg) rs63750876 0.00009
NM_000249.4(MLH1):c.1379A>C (p.Glu460Ala) rs202038499 0.00007
NM_000249.4(MLH1):c.277A>G (p.Ser93Gly) rs41295282 0.00007
NM_000249.4(MLH1):c.42A>C (p.Thr14=) rs369737664 0.00007
NM_000249.4(MLH1):c.649C>T (p.Arg217Cys) rs4986984 0.00007
NM_000249.4(MLH1):c.1013A>G (p.Asn338Ser) rs63751467 0.00006
NM_000249.4(MLH1):c.2174G>A (p.Arg725His) rs566928243 0.00006
NM_000249.4(MLH1):c.69A>G (p.Glu23=) rs63750555 0.00006
NM_000249.4(MLH1):c.955G>A (p.Glu319Lys) rs63750796 0.00006
NM_000249.4(MLH1):c.1128T>C (p.Asp376=) rs267607824 0.00005
NM_000249.4(MLH1):c.1153C>T (p.Arg385Cys) rs63750760 0.00005
NM_000249.4(MLH1):c.1937A>G (p.Tyr646Cys) rs35045067 0.00005
NM_000249.4(MLH1):c.438A>G (p.Gln146=) rs377279035 0.00005
NM_000249.4(MLH1):c.1565G>A (p.Arg522Gln) rs63751630 0.00004
NM_000249.4(MLH1):c.1628A>G (p.His543Arg) rs730881742 0.00004
NM_000249.4(MLH1):c.2252A>G (p.Lys751Arg) rs140195825 0.00004
NM_000249.4(MLH1):c.299G>A (p.Arg100Gln) rs63750266 0.00004
NM_000249.4(MLH1):c.52C>T (p.Arg18Cys) rs367654552 0.00004
NM_000249.4(MLH1):c.579A>G (p.Ser193=) rs587781038 0.00004
NM_000249.4(MLH1):c.794G>A (p.Arg265His) rs63751448 0.00004
NM_000249.4(MLH1):c.116+5G>A rs267607710 0.00003
NM_000249.4(MLH1):c.1730C>T (p.Ser577Leu) rs56185292 0.00003
NM_000249.4(MLH1):c.226G>A (p.Val76Ile) rs878853788 0.00002
NM_000249.4(MLH1):c.303T>G (p.Gly101=) rs4647220 0.00002
NM_000249.4(MLH1):c.-11C>T rs776898290 0.00001
NM_000249.4(MLH1):c.1103C>T (p.Ser368Leu) rs201673334 0.00001
NM_000249.4(MLH1):c.1118G>A (p.Gly373Glu) rs774878513 0.00001
NM_000249.4(MLH1):c.116+14C>G rs773103242 0.00001
NM_000249.4(MLH1):c.1401C>T (p.Ser467=) rs587778910 0.00001
NM_000249.4(MLH1):c.1460G>A (p.Arg487Gln) rs587778917 0.00001
NM_000249.4(MLH1):c.1637A>G (p.Lys546Arg) rs587779954 0.00001
NM_000249.4(MLH1):c.1652A>G (p.Asn551Ser) rs63750271 0.00001
NM_000249.4(MLH1):c.1693A>T (p.Ile565Phe) rs63750062 0.00001
NM_000249.4(MLH1):c.1989+12A>G rs755976424 0.00001
NM_000249.4(MLH1):c.2059C>T (p.Arg687Trp) rs63751275 0.00001
NM_000249.4(MLH1):c.207+1G>A rs267607718 0.00001
NM_000249.4(MLH1):c.2103+6G>T rs1057521607 0.00001
NM_000249.4(MLH1):c.244A>G (p.Thr82Ala) rs587778998 0.00001
NM_000249.4(MLH1):c.298C>T (p.Arg100Ter) rs63751221 0.00001
NM_000249.4(MLH1):c.30G>T (p.Arg10=) rs876660759 0.00001
NM_000249.4(MLH1):c.380+5A>G rs1267759029 0.00001
NM_000249.4(MLH1):c.545+10A>C rs781569222 0.00001
NM_000249.4(MLH1):c.650G>A (p.Arg217His) rs762099920 0.00001
NM_000249.4(MLH1):c.885-5G>T rs267607802 0.00001
NM_000249.4(MLH1):c.963_1014dup (p.Ser339fs) rs1553648058 0.00001
NM_000249.3(MLH1):c.1039-?_1558+?del
NM_000249.3(MLH1):c.1732-?_1896+?del
NM_000249.3(MLH1):c.307-?_1667+?dup
NM_000249.3(MLH1):c.381-?_677+?del
NM_000249.3(MLH1):c.546-?_1731+?dup
NM_000249.4(MLH1):c.*32CTT[1] rs193922366
NM_000249.4(MLH1):c.-11C>A rs776898290
NM_000249.4(MLH1):c.-2_116+1del rs2125693258
NM_000249.4(MLH1):c.1011del (p.Asn338fs) rs63750677
NM_000249.4(MLH1):c.1039-11_1039-8dup rs57509953
NM_000249.4(MLH1):c.1039-2_1409+150del rs2125879653
NM_000249.4(MLH1):c.1039-2_1409+1del rs2125879720
NM_000249.4(MLH1):c.1039-6dup rs1553650466
NM_000249.4(MLH1):c.1039-8_1039-7insTTTA rs535965616
NM_000249.4(MLH1):c.1039-8_1039-7insTTTTTA rs535965616
NM_000249.4(MLH1):c.1039-8_1039-7insTTTTTTTA rs535965616
NM_000249.4(MLH1):c.1039-9_1039-8del rs57509953
NM_000249.4(MLH1):c.104T>G (p.Met35Arg) rs63749906
NM_000249.4(MLH1):c.1050del (p.Gly351fs) rs587778883
NM_000249.4(MLH1):c.1082A>T (p.Lys361Ile) rs2125880713
NM_000249.4(MLH1):c.109G>A (p.Glu37Lys) rs63751012
NM_000249.4(MLH1):c.116+3A>G rs1553637475
NM_000249.4(MLH1):c.116+5G>C rs267607710
NM_000249.4(MLH1):c.117-2_207+1del rs2125710594
NM_000249.4(MLH1):c.1178T>C (p.Leu393Pro) rs786203413
NM_000249.4(MLH1):c.1190del (p.Leu397fs) rs63750749
NM_000249.4(MLH1):c.1196C>T (p.Pro399Leu) rs1553650970
NM_000249.4(MLH1):c.1203C>G (p.Ser401Arg) rs2125883242
NM_000249.4(MLH1):c.1217_1223dup (p.Gln409fs) rs587778899
NM_000249.4(MLH1):c.1219C>T (p.Gln407Ter) rs1057517541
NM_000249.4(MLH1):c.1238_1239del (p.Thr413fs) rs1553651073
NM_000249.4(MLH1):c.1253A>G (p.Asp418Gly) rs754898711
NM_000249.4(MLH1):c.1266C>T (p.Gly422=) rs63750791
NM_000249.4(MLH1):c.126A>G (p.Ala42=) rs1385176857
NM_000249.4(MLH1):c.1270del (p.Ala424fs) rs2125884473
NM_000249.4(MLH1):c.1275dup (p.Gln426fs) rs2125884574
NM_000249.4(MLH1):c.131_132delinsTT (p.Ser44Phe) rs2125710774
NM_000249.4(MLH1):c.1325_1346delinsATTTT (p.Ala442fs) rs587778903
NM_000249.4(MLH1):c.1355C>T (p.Thr452Ile) rs1575538276
NM_000249.4(MLH1):c.1358dup (p.Thr455fs) rs1553651429
NM_000249.4(MLH1):c.1367del (p.Thr455_Ser456insTer) rs2125886267
NM_000249.4(MLH1):c.1410-2_1558+1del rs2125901101
NM_000249.4(MLH1):c.1420C>T (p.Arg474Trp) rs147939838
NM_000249.4(MLH1):c.1453G>T (p.Asp485Tyr) rs63750314
NM_000249.4(MLH1):c.1459C>T (p.Arg487Ter) rs63749795
NM_000249.4(MLH1):c.1489dup (p.Arg497fs) rs63750855
NM_000249.4(MLH1):c.1504A>G (p.Asn502Asp) rs2125902825
NM_000249.4(MLH1):c.1558+1dup rs1553653237
NM_000249.4(MLH1):c.1559-1G>A rs267607837
NM_000249.4(MLH1):c.1559-1G>T rs267607837
NM_000249.4(MLH1):c.1559-2A>G rs267607836
NM_000249.4(MLH1):c.1559-2_1667+1del rs2125943381
NM_000249.4(MLH1):c.1559-4_1667+63del rs2125943327
NM_000249.4(MLH1):c.1571T>G (p.Met524Arg) rs2125943700
NM_000249.4(MLH1):c.1572G>C (p.Met524Ile) rs587779953
NM_000249.4(MLH1):c.1573T>C (p.Leu525=) rs63750137
NM_000249.4(MLH1):c.1609C>T (p.Gln537Ter) rs63751277
NM_000249.4(MLH1):c.1615G>A (p.Ala539Thr) rs1559575256
NM_000249.4(MLH1):c.1664T>G (p.Leu555Arg) rs587778937
NM_000249.4(MLH1):c.1667+2T>C rs878853780
NM_000249.4(MLH1):c.1667+4A>G rs983986337
NM_000249.4(MLH1):c.1667+8A>C rs1553658260
NM_000249.4(MLH1):c.1668-1G>A rs267607845
NM_000249.4(MLH1):c.1668-3C>A rs267607844
NM_000249.4(MLH1):c.1714G>A (p.Gly572Ser) rs587781796
NM_000249.4(MLH1):c.1731G>A (p.Ser577=) rs63751657
NM_000249.4(MLH1):c.1732-1G>A rs267607854
NM_000249.4(MLH1):c.1732-2_1896+1del rs2125984067
NM_000249.4(MLH1):c.1769T>G (p.Leu590Ter) rs1553662753
NM_000249.4(MLH1):c.1770_1772delinsC (p.Leu590fs) rs2125984594
NM_000249.4(MLH1):c.1790G>A (p.Trp597Ter) rs63750604
NM_000249.4(MLH1):c.1816G>C (p.Gly606Arg) rs2125985111
NM_000249.4(MLH1):c.1831_1832del (p.Ile611fs) rs63750150
NM_000249.4(MLH1):c.1846AAG[2] (p.Lys618del) rs63751247
NM_000249.4(MLH1):c.184C>T (p.Gln62Ter) rs63751428
NM_000249.4(MLH1):c.1852_1853delinsGC (p.Lys618Ala) rs35502531
NM_000249.4(MLH1):c.1853A>C (p.Lys618Thr) rs63750449
NM_000249.4(MLH1):c.1853A>T (p.Lys618Met) rs63750449
NM_000249.4(MLH1):c.1896+1G>C rs267607867
NM_000249.4(MLH1):c.1896G>A (p.Glu632=) rs63751632
NM_000249.4(MLH1):c.1918C>T (p.Pro640Ser) rs63749792
NM_000249.4(MLH1):c.1919C>T (p.Pro640Leu) rs267607875
NM_000249.4(MLH1):c.1922_1932del (p.Leu641fs) rs2125990289
NM_000249.4(MLH1):c.1923del (p.Leu641_Leu642insTer) rs1553663834
NM_000249.4(MLH1):c.194G>T (p.Gly65Val) rs63751465
NM_000249.4(MLH1):c.1952A>T (p.Glu651Val) rs2125990704
NM_000249.4(MLH1):c.195C>T (p.Gly65=) rs2125711645
NM_000249.4(MLH1):c.1975C>T (p.Arg659Ter) rs63751310
NM_000249.4(MLH1):c.1989G>T (p.Glu663Asp) rs63751662
NM_000249.4(MLH1):c.1999del (p.Asp667fs) rs2125992965
NM_000249.4(MLH1):c.199G>A (p.Gly67Arg) rs63750206
NM_000249.4(MLH1):c.2009_2013del (p.Lys670fs) rs1553664353
NM_000249.4(MLH1):c.2020G>A (p.Glu674Lys) rs755577490
NM_000249.4(MLH1):c.2031del (p.Ser677fs) rs2125993448
NM_000249.4(MLH1):c.2035G>T (p.Glu679Ter) rs587778971
NM_000249.4(MLH1):c.2038T>C (p.Cys680Arg) rs63750809
NM_000249.4(MLH1):c.2040C>A (p.Cys680Ter) rs63749867
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr) rs63750217
NM_000249.4(MLH1):c.2048T>C (p.Phe683Ser) rs587778972
NM_000249.4(MLH1):c.2048_2050del (p.Phe683del) rs1553664506
NM_000249.4(MLH1):c.2050_2071delinsATTTT (p.Tyr684fs) rs2125993807
NM_000249.4(MLH1):c.2061G>A (p.Arg687=) rs1553664545
NM_000249.4(MLH1):c.208-3C>T rs267607720
NM_000249.4(MLH1):c.2084C>T (p.Ser695Leu) rs63749995
NM_000249.4(MLH1):c.2091C>T (p.Leu697=) rs536488280
NM_000249.4(MLH1):c.2103+1G>A rs267607888
NM_000249.4(MLH1):c.2126C>T (p.Pro709Leu) rs2085619841
NM_000249.4(MLH1):c.2131dup (p.Ser711fs) rs2148522538
NM_000249.4(MLH1):c.2170T>C (p.Leu724=) rs63749875
NM_000249.4(MLH1):c.2190del (p.Pro731fs) rs587780683
NM_000249.4(MLH1):c.2194A>T (p.Lys732Ter) rs267607906
NM_000249.4(MLH1):c.2246T>C (p.Leu749Pro) rs267607894
NM_000249.4(MLH1):c.2247A>G (p.Leu749=) rs786202209
NM_000249.4(MLH1):c.2250C>G (p.Tyr750Ter) rs267607893
NM_000249.4(MLH1):c.2252_2253del (p.Lys751fs) rs267607901
NM_000249.4(MLH1):c.2258_2259dup (p.Glu754fs) rs1060500698
NM_000249.4(MLH1):c.229T>C (p.Cys77Arg) rs63749859
NM_000249.4(MLH1):c.230G>A (p.Cys77Tyr) rs63750437
NM_000249.4(MLH1):c.250A>G (p.Lys84Glu) rs63750641
NM_000249.4(MLH1):c.290A>G (p.Tyr97Cys) rs773647920
NM_000249.4(MLH1):c.292_293delinsTT (p.Gly98Phe) rs1553640314
NM_000249.4(MLH1):c.293G>A (p.Gly98Asp) rs863225382
NM_000249.4(MLH1):c.301G>A (p.Gly101Ser) rs267607726
NM_000249.4(MLH1):c.304G>A (p.Glu102Lys) rs63750453
NM_000249.4(MLH1):c.306+2T>G rs1553640340
NM_000249.4(MLH1):c.306G>T (p.Glu102Asp) rs63751665
NM_000249.4(MLH1):c.319A>G (p.Ile107Val) rs572906317
NM_000249.4(MLH1):c.322_335del (p.Ser108fs) rs1553641269
NM_000249.4(MLH1):c.332C>T (p.Ala111Val) rs63750539
NM_000249.4(MLH1):c.346del (p.Thr116fs) rs63750906
NM_000249.4(MLH1):c.350C>T (p.Thr117Met) rs63750781
NM_000249.4(MLH1):c.365del (p.Gly122fs) rs2125757477
NM_000249.4(MLH1):c.374C>A (p.Ala125Glu) rs1553641362
NM_000249.4(MLH1):c.37G>A (p.Glu13Lys) rs587779008
NM_000249.4(MLH1):c.380+1G>A rs267607745
NM_000249.4(MLH1):c.380+2T>C rs267607742
NM_000249.4(MLH1):c.38_39insCCCA (p.Glu13fs) rs63750057
NM_000249.4(MLH1):c.3G>A (p.Met1Ile) rs72481822
NM_000249.4(MLH1):c.453+1G>T rs267607750
NM_000249.4(MLH1):c.454-13A>G rs267607749
NM_000249.4(MLH1):c.456_545+2del rs1553642657
NM_000249.4(MLH1):c.460del (p.Asp154fs) rs1575448385
NM_000249.4(MLH1):c.492del (p.Ala165fs) rs1553642698
NM_000249.4(MLH1):c.497T>G (p.Leu166Ter) rs267607755
NM_000249.4(MLH1):c.544A>G (p.Arg182Gly) rs63750211
NM_000249.4(MLH1):c.546-2_589-59del rs2125805231
NM_000249.4(MLH1):c.55A>T (p.Ile19Phe) rs63750648
NM_000249.4(MLH1):c.588+1G>C rs267607772
NM_000249.4(MLH1):c.588+5G>A rs267607768
NM_000249.4(MLH1):c.588del (p.Lys196fs) rs63751653
NM_000249.4(MLH1):c.589C>T (p.Gln197Ter) rs1553644123
NM_000249.4(MLH1):c.604del (p.Ala202fs) rs1553644155
NM_000249.4(MLH1):c.631_632del (p.Ser211fs) rs2125808812
NM_000249.4(MLH1):c.665del (p.Asn222fs) rs63750385
NM_000249.4(MLH1):c.676C>T (p.Arg226Ter) rs63751615
NM_000249.4(MLH1):c.677+1G>T rs267607778
NM_000249.4(MLH1):c.677+3A>G rs267607780
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.67del (p.Glu23fs) rs63750822
NM_000249.4(MLH1):c.694G>A (p.Gly232Arg) rs1553645131
NM_000249.4(MLH1):c.696_698del (p.Cys233del) rs1575480253
NM_000249.4(MLH1):c.70del (p.Val24fs) rs63751396
NM_000249.4(MLH1):c.731G>A (p.Gly244Asp) rs63750303
NM_000249.4(MLH1):c.753_755del (p.Tyr251_Ser252delinsTer) rs1553645256
NM_000249.4(MLH1):c.754T>C (p.Ser252Pro) rs876661260
NM_000249.4(MLH1):c.772T>C (p.Phe258Leu) rs2125823165
NM_000249.4(MLH1):c.790+1G>A rs267607789
NM_000249.4(MLH1):c.790+2T>C rs267607790
NM_000249.4(MLH1):c.790+4A>G rs267607786
NM_000249.4(MLH1):c.791-1G>A rs267607795
NM_000249.4(MLH1):c.793C>A (p.Arg265Ser) rs63751194
NM_000249.4(MLH1):c.793C>T (p.Arg265Cys) rs63751194
NM_000249.4(MLH1):c.794G>C (p.Arg265Pro) rs63751448
NM_000249.4(MLH1):c.827_831del (p.Ile276fs) rs1553646669
NM_000249.4(MLH1):c.844G>A (p.Ala282Thr) rs774689817
NM_000249.4(MLH1):c.864A>C (p.Thr288=) rs1457205659
NM_000249.4(MLH1):c.883A>C (p.Ser295Arg) rs63751598
NM_000249.4(MLH1):c.883A>G (p.Ser295Gly) rs63751598
NM_000249.4(MLH1):c.884+3A>G rs267607803
NM_000249.4(MLH1):c.885-21TC[2] rs267607804
NM_000249.4(MLH1):c.898_908del (p.Pro300fs) rs1553647928
NM_000249.4(MLH1):c.908T>G (p.Val303Gly) rs267607813
NM_000249.4(MLH1):c.908_909del (p.Val303fs) rs1553647947
NM_000249.4(MLH1):c.927C>T (p.Pro309=) rs63749896
NM_000249.4(MLH1):c.949del (p.Leu317fs) rs1553648029
NM_000249.4(MLH1):c.970G>T (p.Glu324Ter) rs1553648068
NM_000249.4(MLH1):c.995_996insA (p.Ser332fs) rs2125854201

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.