ClinVar Miner

List of variants in gene MLH1 reported as likely pathogenic for colorectal neoplasm

Included ClinVar conditions (84):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 411
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000249.4(MLH1):c.1039-7_1040del rs1559551447 0.00061
NM_000249.4(MLH1):c.2038T>G (p.Cys680Gly) rs63750809 0.00007
NM_000249.4(MLH1):c.1517T>C (p.Val506Ala) rs63749909 0.00001
NM_000249.4(MLH1):c.1667G>C (p.Ser556Thr) rs63751596 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.2080G>T (p.Glu694Ter) rs147542208 0.00001
NM_000249.4(MLH1):c.244A>G (p.Thr82Ala) rs587778998 0.00001
NM_000249.4(MLH1):c.306G>A (p.Glu102=) rs63751665 0.00001
NC_000003.11:g.(37067499_37070274)_(37070424_37081676)[3]
NC_000003.11:g.(37067499_37070274)_(37070424_37081676)dup
NC_000003.11:g.(?_37038099)_(37042554_?)dup
NC_000003.11:g.(?_37045882)_(37050406_?)dup
NC_000003.11:g.(?_37053301)_(37059100_?)del
NC_000003.11:g.(?_37053301)_(37083832_?)dup
NC_000003.11:g.(?_37053305)_(37083828_?)dup
NC_000003.11:g.(?_37081667)_(37083832_?)dup
NC_000003.12:g.(?_37006985)_(37008911_?)del
NC_000003.12:g.(?_37008800)_(37008915_?)dup
NC_000003.12:g.(?_37011820)_(37017599_?)del
NC_000003.12:g.(?_37042258)_(37042341_?)dup
NC_000003.12:g.(?_37048507)_(37049027_?)dup
NM_000249.3(MLH1):c.546-?_1731+?dup
NM_000249.3:c.(306+1_307-1)_(790+1_791-1)del
NM_000249.4(MLH1):c.-27C>A rs587779001
NM_000249.4(MLH1):c.1011dup (p.Asn338fs) rs63750677
NM_000249.4(MLH1):c.101A>C (p.Glu34Ala)
NM_000249.4(MLH1):c.1032del (p.Phe344fs) rs1553648225
NM_000249.4(MLH1):c.1033_1038+13del
NM_000249.4(MLH1):c.1038+1G>A rs267607816
NM_000249.4(MLH1):c.1038+1G>C rs267607816
NM_000249.4(MLH1):c.1038+1G>T
NM_000249.4(MLH1):c.1038G>A (p.Gln346=) rs63751715
NM_000249.4(MLH1):c.1039-1G>A rs267607819
NM_000249.4(MLH1):c.1039-1G>C rs267607819
NM_000249.4(MLH1):c.1039-1G>T
NM_000249.4(MLH1):c.1039-2A>C rs267607815
NM_000249.4(MLH1):c.1039-2A>G rs267607815
NM_000249.4(MLH1):c.1039-2A>T rs267607815
NM_000249.4(MLH1):c.103A>G (p.Met35Val) rs876659691
NM_000249.4(MLH1):c.1040C>T (p.Thr347Ile)
NM_000249.4(MLH1):c.104T>A (p.Met35Lys) rs63749906
NM_000249.4(MLH1):c.104T>G (p.Met35Arg) rs63749906
NM_000249.4(MLH1):c.109G>A (p.Glu37Lys) rs63751012
NM_000249.4(MLH1):c.109G>C (p.Glu37Gln) rs63751012
NM_000249.4(MLH1):c.110A>G (p.Glu37Gly) rs876658410
NM_000249.4(MLH1):c.112A>C (p.Asn38His) rs63750580
NM_000249.4(MLH1):c.112A>T (p.Asn38Tyr) rs63750580
NM_000249.4(MLH1):c.1139_1149del (p.Ala380fs) rs2083404326
NM_000249.4(MLH1):c.114C>A (p.Asn38Lys) rs267607706
NM_000249.4(MLH1):c.114C>G (p.Asn38Lys) rs267607706
NM_000249.4(MLH1):c.116+1G>A rs267607709
NM_000249.4(MLH1):c.116+1del
NM_000249.4(MLH1):c.116+3A>G rs1553637475
NM_000249.4(MLH1):c.116+5G>C rs267607710
NM_000249.4(MLH1):c.1168del (p.Glu390fs)
NM_000249.4(MLH1):c.117-1G>A rs587779950
NM_000249.4(MLH1):c.117-1G>C
NM_000249.4(MLH1):c.117-1G>T rs587779950
NM_000249.4(MLH1):c.117-2A>G rs267607712
NM_000249.4(MLH1):c.117-2A>T
NM_000249.4(MLH1):c.117-6T>A rs2081158776
NM_000249.4(MLH1):c.117-7_121del
NM_000249.4(MLH1):c.1211del (p.Leu404fs)
NM_000249.4(MLH1):c.1219C>T (p.Gln407Ter) rs1057517541
NM_000249.4(MLH1):c.121G>A (p.Asp41Asn) rs267607713
NM_000249.4(MLH1):c.121G>T (p.Asp41Tyr)
NM_000249.4(MLH1):c.122A>G (p.Asp41Gly) rs63751094
NM_000249.4(MLH1):c.122A>T (p.Asp41Val) rs63751094
NM_000249.4(MLH1):c.1230_1232delinsTG (p.Ile411fs) rs1575536219
NM_000249.4(MLH1):c.1278_1279insTG (p.Gln427fs) rs1559553492
NM_000249.4(MLH1):c.1297G>T (p.Glu433Ter) rs63750443
NM_000249.4(MLH1):c.1322del (p.Ala441fs) rs2125885422
NM_000249.4(MLH1):c.134_136del (p.Thr45del)
NM_000249.4(MLH1):c.1355C>T (p.Thr452Ile) rs1575538276
NM_000249.4(MLH1):c.1378G>T (p.Glu460Ter) rs756843954
NM_000249.4(MLH1):c.1387G>T (p.Gly463Ter) rs1559554339
NM_000249.4(MLH1):c.1409+1G>A rs267607825
NM_000249.4(MLH1):c.1409+1G>T rs267607825
NM_000249.4(MLH1):c.1409+1_1409+6del rs1057517617
NM_000249.4(MLH1):c.1409+2T>G rs587778911
NM_000249.4(MLH1):c.1410-16_1420del
NM_000249.4(MLH1):c.1410-1G>A
NM_000249.4(MLH1):c.1410-27_1414del rs2125900759
NM_000249.4(MLH1):c.1410-2A>G rs746536721
NM_000249.4(MLH1):c.1410-2_1410-1delinsCC rs1559558071
NM_000249.4(MLH1):c.143A>C (p.Gln48Pro) rs587778914
NM_000249.4(MLH1):c.1502_1503delinsA (p.Ile501fs) rs1553653084
NM_000249.4(MLH1):c.1528_1532delinsACTAGTTTG (p.Gln510fs) rs2083718945
NM_000249.4(MLH1):c.152T>A (p.Val51Asp) rs1553638767
NM_000249.4(MLH1):c.154A>T (p.Lys52Ter)
NM_000249.4(MLH1):c.1550del (p.Gly517fs) rs2125903643
NM_000249.4(MLH1):c.1558+1G>A rs267607832
NM_000249.4(MLH1):c.1558+1G>T rs267607832
NM_000249.4(MLH1):c.1558+1del
NM_000249.4(MLH1):c.1558+1dup rs1553653237
NM_000249.4(MLH1):c.1558+2T>A rs267607831
NM_000249.4(MLH1):c.1558+2T>C rs267607831
NM_000249.4(MLH1):c.1558+2T>G rs267607831
NM_000249.4(MLH1):c.1559-1G>A rs267607837
NM_000249.4(MLH1):c.1559-1G>C rs267607837
NM_000249.4(MLH1):c.1559-2A>C rs267607836
NM_000249.4(MLH1):c.156del (p.Glu53fs) rs63750028
NM_000249.4(MLH1):c.1588_1590del (p.Phe530del) rs587778930
NM_000249.4(MLH1):c.1589_1597del (p.Phe530_Gly532del)
NM_000249.4(MLH1):c.1595G>A (p.Gly532Asp) rs2084640841
NM_000249.4(MLH1):c.1597del (p.Cys533fs) rs1559575107
NM_000249.4(MLH1):c.1612del (p.Trp538fs) rs2084643841
NM_000249.4(MLH1):c.1616C>A (p.Ala539Asp) rs267607843
NM_000249.4(MLH1):c.1616_1619del (p.Ala539fs) rs2084645057
NM_000249.4(MLH1):c.1633dup (p.Thr545fs) rs1553658104
NM_000249.4(MLH1):c.1646T>C (p.Leu549Pro) rs63750289
NM_000249.4(MLH1):c.1649T>C (p.Leu550Pro) rs63750193
NM_000249.4(MLH1):c.1658_1667+3del rs2125945833
NM_000249.4(MLH1):c.1664T>C (p.Leu555Pro) rs587778937
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+2T>G
NM_000249.4(MLH1):c.1667G>A (p.Ser556Asn) rs63751596
NM_000249.4(MLH1):c.1668-1G>A rs267607845
NM_000249.4(MLH1):c.1668-1G>T rs267607845
NM_000249.4(MLH1):c.1668-3C>A rs267607844
NM_000249.4(MLH1):c.1676T>C (p.Leu559Pro) rs63750059
NM_000249.4(MLH1):c.1676T>G (p.Leu559Arg) rs63750059
NM_000249.4(MLH1):c.1691T>G (p.Leu564Arg)
NM_000249.4(MLH1):c.1714G>A (p.Gly572Ser) rs587781796
NM_000249.4(MLH1):c.1715G>T (p.Gly572Val)
NM_000249.4(MLH1):c.1721T>C (p.Leu574Pro) rs63751608
NM_000249.4(MLH1):c.1731+1G>C rs267607853
NM_000249.4(MLH1):c.1731+1G>T rs267607853
NM_000249.4(MLH1):c.1731+2T>G rs267607856
NM_000249.4(MLH1):c.1731+2dup
NM_000249.4(MLH1):c.1731+3A>T rs267607851
NM_000249.4(MLH1):c.1731+5G>A rs267607850
NM_000249.4(MLH1):c.1731+5_1731+6delinsCC rs2125958437
NM_000249.4(MLH1):c.1732-1G>A rs267607854
NM_000249.4(MLH1):c.1732-2A>G rs267607852
NM_000249.4(MLH1):c.1732-2A>T rs267607852
NM_000249.4(MLH1):c.1740_1753del (p.Pro581fs) rs1553662622
NM_000249.4(MLH1):c.1744C>T (p.Leu582Phe) rs63751713
NM_000249.4(MLH1):c.174_175delinsT (p.Leu58fs) rs876660860
NM_000249.4(MLH1):c.1757C>A (p.Ala586Asp) rs63750587
NM_000249.4(MLH1):c.1766C>A (p.Ala589Asp) rs63750016
NM_000249.4(MLH1):c.1803del (p.Asp601fs) rs2125984944
NM_000249.4(MLH1):c.1823C>A (p.Ala608Asp) rs267607864
NM_000249.4(MLH1):c.1832TTG[1] (p.Val612del) rs63750486
NM_000249.4(MLH1):c.1841_1842del (p.Phe614fs)
NM_000249.4(MLH1):c.1844T>C (p.Leu615Pro) rs2085311497
NM_000249.4(MLH1):c.1846AAG[2] (p.Lys618del) rs63751247
NM_000249.4(MLH1):c.1855G>C (p.Ala619Pro) rs267607866
NM_000249.4(MLH1):c.1858del (p.Glu620fs) rs786203456
NM_000249.4(MLH1):c.1864del (p.Ala623fs) rs1559588540
NM_000249.4(MLH1):c.1866del (p.Ala623fs) rs587778950
NM_000249.4(MLH1):c.1874_1896+11delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT
NM_000249.4(MLH1):c.187G>A (p.Asp63Asn) rs63750850
NM_000249.4(MLH1):c.187G>C (p.Asp63His) rs63750850
NM_000249.4(MLH1):c.188A>G (p.Asp63Gly) rs1064795693
NM_000249.4(MLH1):c.188A>T (p.Asp63Val) rs1064795693
NM_000249.4(MLH1):c.1896+1G>A rs267607867
NM_000249.4(MLH1):c.1896+1G>T rs267607867
NM_000249.4(MLH1):c.1896+1del rs267607868
NM_000249.4(MLH1):c.1896+2T>C rs267607869
NM_000249.4(MLH1):c.1896G>A (p.Glu632=) rs63751632
NM_000249.4(MLH1):c.1896G>C (p.Glu632Asp)
NM_000249.4(MLH1):c.1896G>T (p.Glu632Asp)
NM_000249.4(MLH1):c.1897-28_1900delinsTCAGAAAAT
NM_000249.4(MLH1):c.1897-2A>G rs267607871
NM_000249.4(MLH1):c.1907T>C (p.Leu636Pro) rs63750825
NM_000249.4(MLH1):c.1918C>A (p.Pro640Thr) rs63749792
NM_000249.4(MLH1):c.1918C>G (p.Pro640Ala) rs63749792
NM_000249.4(MLH1):c.1918C>T (p.Pro640Ser) rs63749792
NM_000249.4(MLH1):c.1919C>G (p.Pro640Arg) rs267607875
NM_000249.4(MLH1):c.1919C>T (p.Pro640Leu) rs267607875
NM_000249.4(MLH1):c.1926dup (p.Ile643fs) rs2085415475
NM_000249.4(MLH1):c.193G>A (p.Gly65Ser) rs2081173076
NM_000249.4(MLH1):c.193G>C (p.Gly65Arg) rs2081173076
NM_000249.4(MLH1):c.193_201delinsC (p.Gly65fs)
NM_000249.4(MLH1):c.1942C>G (p.Pro648Ala) rs63750899
NM_000249.4(MLH1):c.1942C>T (p.Pro648Ser) rs63750899
NM_000249.4(MLH1):c.1943C>G (p.Pro648Arg) rs63750610
NM_000249.4(MLH1):c.1943C>T (p.Pro648Leu) rs63750610
NM_000249.4(MLH1):c.194G>A (p.Gly65Asp) rs63751465
NM_000249.4(MLH1):c.1958T>C (p.Leu653Pro) rs63751202
NM_000249.4(MLH1):c.1958T>G (p.Leu653Arg) rs63751202
NM_000249.4(MLH1):c.1976G>C (p.Arg659Pro) rs63749900
NM_000249.4(MLH1):c.1984A>C (p.Thr662Pro) rs587778964
NM_000249.4(MLH1):c.1989+1G>A rs267607879
NM_000249.4(MLH1):c.1989+1G>C rs267607879
NM_000249.4(MLH1):c.1989+1G>T rs267607879
NM_000249.4(MLH1):c.1989+1del
NM_000249.4(MLH1):c.1989+2T>C rs1553664119
NM_000249.4(MLH1):c.1989+5G>C rs267607878
NM_000249.4(MLH1):c.1989+5G>T rs267607878
NM_000249.4(MLH1):c.1989G>A (p.Glu663=) rs63751662
NM_000249.4(MLH1):c.1989G>T (p.Glu663Asp) rs63751662
NM_000249.4(MLH1):c.1989_1989+8del rs1575628928
NM_000249.4(MLH1):c.1990-16_1990-2del rs267607881
NM_000249.4(MLH1):c.1990-1G>T rs267607884
NM_000249.4(MLH1):c.1990-3_2001del rs2085459433
NM_000249.4(MLH1):c.1996T>C (p.Trp666Arg) rs267607887
NM_000249.4(MLH1):c.200G>T (p.Gly67Val) rs63749939
NM_000249.4(MLH1):c.202_207+1del
NM_000249.4(MLH1):c.2038T>C (p.Cys680Arg) rs63750809
NM_000249.4(MLH1):c.203T>A (p.Ile68Asn) rs63750281
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr) rs63750217
NM_000249.4(MLH1):c.2041G>C (p.Ala681Pro) rs63750217
NM_000249.4(MLH1):c.2041del (p.Ala681fs) rs2085472296
NM_000249.4(MLH1):c.2047T>G (p.Phe683Val)
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.2054C>T (p.Ser685Phe) rs1064796101
NM_000249.4(MLH1):c.207+1G>T rs267607718
NM_000249.4(MLH1):c.207+1_207+2del rs267607719
NM_000249.4(MLH1):c.207+2T>C rs267607722
NM_000249.4(MLH1):c.2070C>G (p.Tyr690Ter) rs550890395
NM_000249.4(MLH1):c.2070_2071insTT (p.Ile691fs) rs876659681
NM_000249.4(MLH1):c.208-1G>C
NM_000249.4(MLH1):c.208-1_208del rs587778973
NM_000249.4(MLH1):c.208-2A>C rs267607716
NM_000249.4(MLH1):c.208-2A>G rs267607716
NM_000249.4(MLH1):c.208-3C>G rs267607720
NM_000249.4(MLH1):c.208-3C>T rs267607720
NM_000249.4(MLH1):c.2084C>A (p.Ser695Ter) rs63749995
NM_000249.4(MLH1):c.2103+1G>C rs267607888
NM_000249.4(MLH1):c.2103+1G>T rs267607888
NM_000249.4(MLH1):c.2103+3A>G rs587778976
NM_000249.4(MLH1):c.2103G>A (p.Gln701=) rs63750603
NM_000249.4(MLH1):c.2104-1G>A rs587778978
NM_000249.4(MLH1):c.2104-1G>C
NM_000249.4(MLH1):c.2104-1G>T rs587778978
NM_000249.4(MLH1):c.2104-1_2104delinsTCTTATGACATCTAAT rs1553665467
NM_000249.4(MLH1):c.2104-2A>C
NM_000249.4(MLH1):c.2104-2A>G rs267607889
NM_000249.4(MLH1):c.2104-2A>T rs267607889
NM_000249.4(MLH1):c.2104-6_2104-5delinsGG
NM_000249.4(MLH1):c.2128_2131dup (p.Ser711Ter)
NM_000249.4(MLH1):c.2153A>C (p.His718Pro) rs587778983
NM_000249.4(MLH1):c.2159T>G (p.Val720Gly) rs587778985
NM_000249.4(MLH1):c.2187_2190dup (p.Pro731fs)
NM_000249.4(MLH1):c.218T>C (p.Leu73Pro) rs397514684
NM_000249.4(MLH1):c.218T>G (p.Leu73Arg) rs397514684
NM_000249.4(MLH1):c.2236_2247del (p.Leu746_Leu749del) rs1575641243
NM_000249.4(MLH1):c.2246T>C (p.Leu749Pro) rs267607894
NM_000249.4(MLH1):c.2252_2253dup (p.Val752fs) rs267607901
NM_000249.4(MLH1):c.2258_2259dup (p.Glu754fs) rs1060500698
NM_000249.4(MLH1):c.2262del (p.Arg755fs) rs267607904
NM_000249.4(MLH1):c.227T>A (p.Val76Glu) rs1434599441
NM_000249.4(MLH1):c.230G>A (p.Cys77Tyr) rs63750437
NM_000249.4(MLH1):c.238T>A (p.Phe80Ile)
NM_000249.4(MLH1):c.238T>G (p.Phe80Val) rs63749990
NM_000249.4(MLH1):c.245C>G (p.Thr82Ser) rs63750005
NM_000249.4(MLH1):c.245C>T (p.Thr82Ile) rs63750005
NM_000249.4(MLH1):c.250A>C (p.Lys84Gln)
NM_000249.4(MLH1):c.250A>G (p.Lys84Glu) rs63750641
NM_000249.4(MLH1):c.252A>C (p.Lys84Asn)
NM_000249.4(MLH1):c.275_278del (p.Ala92fs)
NM_000249.4(MLH1):c.27G>A (p.Arg9=) rs759680369
NM_000249.4(MLH1):c.283del (p.Ser95fs) rs1064795441
NM_000249.4(MLH1):c.292G>A (p.Gly98Ser) rs267607725
NM_000249.4(MLH1):c.292G>C (p.Gly98Arg) rs267607725
NM_000249.4(MLH1):c.293G>A (p.Gly98Asp) rs863225382
NM_000249.4(MLH1):c.293_304del (p.Gly98_Gly101del) rs63751691
NM_000249.4(MLH1):c.299G>C (p.Arg100Pro) rs63750266
NM_000249.4(MLH1):c.2T>C (p.Met1Thr) rs111052004
NM_000249.4(MLH1):c.301G>A (p.Gly101Ser) rs267607726
NM_000249.4(MLH1):c.301G>C (p.Gly101Arg) rs267607726
NM_000249.4(MLH1):c.302G>A (p.Gly101Asp) rs267607727
NM_000249.4(MLH1):c.304G>A (p.Glu102Lys) rs63750453
NM_000249.4(MLH1):c.306+2T>C
NM_000249.4(MLH1):c.306G>C (p.Glu102Asp) rs63751665
NM_000249.4(MLH1):c.306G>T (p.Glu102Asp) rs63751665
NM_000249.4(MLH1):c.307-1G>A
NM_000249.4(MLH1):c.307-1G>C rs267607736
NM_000249.4(MLH1):c.307-2A>C rs267607732
NM_000249.4(MLH1):c.307-2A>G rs267607732
NM_000249.4(MLH1):c.325del (p.His109fs) rs1553641273
NM_000249.4(MLH1):c.331G>A (p.Ala111Thr)
NM_000249.4(MLH1):c.332C>T (p.Ala111Val) rs63750539
NM_000249.4(MLH1):c.338T>A (p.Val113Asp) rs63750559
NM_000249.4(MLH1):c.345_349del (p.Thr116fs) rs2081714489
NM_000249.4(MLH1):c.347del (p.Thr116fs) rs876661159
NM_000249.4(MLH1):c.34_46del (p.Leu11_Asp12insTer) rs2080891193
NM_000249.4(MLH1):c.350C>G (p.Thr117Arg) rs63750781
NM_000249.4(MLH1):c.350C>T (p.Thr117Met) rs63750781
NM_000249.4(MLH1):c.355A>G (p.Thr119Ala) rs977932120
NM_000249.4(MLH1):c.366_369del (p.Lys123fs)
NM_000249.4(MLH1):c.372_380+8del
NM_000249.4(MLH1):c.373G>T (p.Ala125Ser)
NM_000249.4(MLH1):c.374C>A (p.Ala125Glu) rs1553641362
NM_000249.4(MLH1):c.380+1G>A rs267607745
NM_000249.4(MLH1):c.380+1G>C rs267607745
NM_000249.4(MLH1):c.380+1G>T rs267607745
NM_000249.4(MLH1):c.380+1del
NM_000249.4(MLH1):c.380+2T>A rs267607742
NM_000249.4(MLH1):c.380+2T>C rs267607742
NM_000249.4(MLH1):c.380G>A (p.Arg127Lys) rs63751595
NM_000249.4(MLH1):c.380G>T (p.Arg127Ile) rs63751595
NM_000249.4(MLH1):c.380_380+1insTAT
NM_000249.4(MLH1):c.381-1G>C rs267607744
NM_000249.4(MLH1):c.381-2A>G rs267607743
NM_000249.4(MLH1):c.388T>C (p.Tyr130His) rs587779010
NM_000249.4(MLH1):c.389A>G (p.Tyr130Cys) rs587779011
NM_000249.4(MLH1):c.393del (p.Asp132fs) rs2081922847
NM_000249.4(MLH1):c.3G>A (p.Met1Ile) rs72481822
NM_000249.4(MLH1):c.3G>T (p.Met1Ile) rs72481822
NM_000249.4(MLH1):c.404_407del (p.Leu135fs) rs587779014
NM_000249.4(MLH1):c.415_453+520delinsGCTTTCCCC
NM_000249.4(MLH1):c.440G>A (p.Gly147Glu) rs1060500702
NM_000249.4(MLH1):c.441dup (p.Thr148fs) rs2125773395
NM_000249.4(MLH1):c.453+1G>A rs267607750
NM_000249.4(MLH1):c.453+1G>T rs267607750
NM_000249.4(MLH1):c.453+2_453+7delinsGATC rs1575441094
NM_000249.4(MLH1):c.454-13A>G rs267607749
NM_000249.4(MLH1):c.454-1G>C rs193922370
NM_000249.4(MLH1):c.454-1G>T rs193922370
NM_000249.4(MLH1):c.454-2A>G rs267607753
NM_000249.4(MLH1):c.464T>G (p.Leu155Arg) rs63750891
NM_000249.4(MLH1):c.469dup (p.Tyr157fs) rs63751101
NM_000249.4(MLH1):c.536TTG[1] (p.Val180del) rs786201988
NM_000249.4(MLH1):c.543C>G (p.Gly181=) rs1481129490
NM_000249.4(MLH1):c.543C>T (p.Gly181=) rs1481129490
NM_000249.4(MLH1):c.545+1G>A rs267607765
NM_000249.4(MLH1):c.545+1G>T rs267607765
NM_000249.4(MLH1):c.545+4_545+5del
NM_000249.4(MLH1):c.545G>A (p.Arg182Lys) rs587779021
NM_000249.4(MLH1):c.545G>C (p.Arg182Thr) rs587779021
NM_000249.4(MLH1):c.546-1G>A rs587779022
NM_000249.4(MLH1):c.546-2A>T rs267607759
NM_000249.4(MLH1):c.554T>G (p.Val185Gly) rs63750515
NM_000249.4(MLH1):c.574_588+2del rs587779023
NM_000249.4(MLH1):c.577T>C (p.Ser193Pro) rs63751021
NM_000249.4(MLH1):c.581T>G (p.Val194Gly) rs876658962
NM_000249.4(MLH1):c.588+1del rs267607773
NM_000249.4(MLH1):c.588+2T>A rs587779024
NM_000249.4(MLH1):c.588+5G>T rs267607768
NM_000249.4(MLH1):c.589-1G>A rs587779027
NM_000249.4(MLH1):c.589-1G>T rs587779027
NM_000249.4(MLH1):c.589-2A>C rs267607767
NM_000249.4(MLH1):c.61G>C (p.Ala21Pro) rs2080897397
NM_000249.4(MLH1):c.61G>T (p.Ala21Ser) rs2080897397
NM_000249.4(MLH1):c.62C>A (p.Ala21Glu) rs63750706
NM_000249.4(MLH1):c.62C>G (p.Ala21Gly)
NM_000249.4(MLH1):c.62C>T (p.Ala21Val) rs63750706
NM_000249.4(MLH1):c.677+1G>A rs267607778
NM_000249.4(MLH1):c.677G>T (p.Arg226Leu) rs63751711
NM_000249.4(MLH1):c.677_677+1insT rs587779033
NM_000249.4(MLH1):c.678-1G>A rs267607784
NM_000249.4(MLH1):c.678-1G>C rs267607784
NM_000249.4(MLH1):c.678-1G>T rs267607784
NM_000249.4(MLH1):c.678-2A>C
NM_000249.4(MLH1):c.678-2A>G rs587779035
NM_000249.4(MLH1):c.678-3_678-1del
NM_000249.4(MLH1):c.731G>T (p.Gly244Val) rs63750303
NM_000249.4(MLH1):c.739T>C (p.Ser247Pro) rs63750948
NM_000249.4(MLH1):c.73A>T (p.Ile25Phe) rs63749838
NM_000249.4(MLH1):c.779T>A (p.Leu260His) rs63751283
NM_000249.4(MLH1):c.782TCA[1] (p.Ile262del) rs587779039
NM_000249.4(MLH1):c.789_790+4del
NM_000249.4(MLH1):c.790+1G>C rs267607789
NM_000249.4(MLH1):c.790+4A>C rs267607786
NM_000249.4(MLH1):c.790+4A>G rs267607786
NM_000249.4(MLH1):c.791-1G>C rs267607795
NM_000249.4(MLH1):c.791-1G>T rs267607795
NM_000249.4(MLH1):c.791-2A>G rs267607794
NM_000249.4(MLH1):c.791-3T>G
NM_000249.4(MLH1):c.791-7T>A rs587779042
NM_000249.4(MLH1):c.793C>A (p.Arg265Ser) rs63751194
NM_000249.4(MLH1):c.793C>G (p.Arg265Gly) 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.816del (p.Arg273fs) rs2125837110
NM_000249.4(MLH1):c.827T>G (p.Ile276Arg) rs1253275403
NM_000249.4(MLH1):c.838T>G (p.Tyr280Asp) rs587779044
NM_000249.4(MLH1):c.83C>A (p.Pro28Gln)
NM_000249.4(MLH1):c.842C>T (p.Ala281Val) rs63749950
NM_000249.4(MLH1):c.84del (p.Ala29fs) rs587779045
NM_000249.4(MLH1):c.859_885-855del
NM_000249.4(MLH1):c.860del (p.Asn287fs) rs63750034
NM_000249.4(MLH1):c.86C>G (p.Ala29Gly) rs63750216
NM_000249.4(MLH1):c.875T>C (p.Leu292Pro) rs63750517
NM_000249.4(MLH1):c.879C>G (p.Tyr293Ter)
NM_000249.4(MLH1):c.882C>T (p.Leu294=) rs63751707
NM_000249.4(MLH1):c.884+1G>A rs1553646764
NM_000249.4(MLH1):c.884+1_884+2del
NM_000249.4(MLH1):c.884+2T>C rs267607806
NM_000249.4(MLH1):c.884+3A>G rs267607803
NM_000249.4(MLH1):c.884+4A>G rs267607777
NM_000249.4(MLH1):c.884G>A (p.Ser295Asn) rs63750144
NM_000249.4(MLH1):c.884G>C (p.Ser295Thr) rs63750144
NM_000249.4(MLH1):c.885-2A>C rs267607805
NM_000249.4(MLH1):c.885-2A>G rs267607805
NM_000249.4(MLH1):c.88_108del (p.Asn30_Ile36del)
NM_000249.4(MLH1):c.910G>T (p.Asp304Tyr) rs1482654951
NM_000249.4(MLH1):c.911A>G (p.Asp304Gly) rs63750993
NM_000249.4(MLH1):c.911A>T (p.Asp304Val) rs63750993
NM_000249.4(MLH1):c.916A>G (p.Asn306Asp)
NM_000249.4(MLH1):c.917A>G (p.Asn306Ser) rs755553895
NM_000249.4(MLH1):c.918T>A (p.Asn306Lys) rs587779054
NM_000249.4(MLH1):c.923A>C (p.His308Pro) rs1559543768
NM_000249.4(MLH1):c.927dup (p.Thr310fs) rs1553647995
NM_000249.4(MLH1):c.92C>A (p.Ala31Asp)
NM_000249.4(MLH1):c.931A>G (p.Lys311Glu) rs876658657
NM_000249.4(MLH1):c.960_964dup (p.Ile322fs) rs1553648047
NM_000249.4(MLH1):c.971dup (p.Arg325fs) rs587781554
NM_000249.4(MLH1):c.978GCA[2] (p.Gln328del) rs2082985381
NM_000249.4(MLH1):c.980_983dup (p.His329fs) rs1559544297
NM_000249.4(MLH1):c.984_997del (p.His329fs) rs587782265
NM_000249.4(MLH1):c.988_990del (p.Ile330del) rs63751197
NM_000249.4(MLH1):c.997_1038+10del
NM_000249.4(MLH1):c.9_21del (p.Phe3fs) rs1064795341
NM_001354629.2(MLH1):c.208-3445_208-3433del rs1057517543

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.