ClinVar Miner

List of variants in gene MLH1 reported as pathogenic for Lynch syndrome

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 593
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HGVS dbSNP
MLH1, 1-BP DEL, 1784T
MLH1, 11.6-KB DEL
MLH1, 2-BP DEL, 593AG
MLH1, 3-BP DEL, 213AGA
MLH1, 3.5-KB DEL
MLH1, 370-BP DEL
MLH1, EPIGENETICALLY SILENCED
MLH1, EX16DEL
MLH1, EX18DEL
MLH1, HYPERMETHYLATION
MLH1:c.(?_-198)_207+?del
MLH1:c.(?_-198)_306+?del
NC_000003.11:g.(?_37038110)_(37042544_?)del
NM_000249.3(MLH1):c.(?_-198)_(*193_?)del
NM_000249.3(MLH1):c.(?_-198)_116+?del
NM_000249.3(MLH1):c.(?_-198)_1558+?del
NM_000249.3(MLH1):c.(?_-198)_545+?del
NM_000249.3(MLH1):c.(?_-198)_884+?del
NM_000249.3(MLH1):c.(?_1732)_(2271_?)del
NM_000249.3(MLH1):c.-381_207+606del
NM_000249.3(MLH1):c.-42C>T rs41285097
NM_000249.3(MLH1):c.-73960_*46597del
NM_000249.3(MLH1):c.100G>A (p.Glu34Lys) rs1559500884
NM_000249.3(MLH1):c.1024_1038+1del rs1553648201
NM_000249.3(MLH1):c.1037A>G (p.Gln346Arg) rs63751609
NM_000249.3(MLH1):c.1038G>A (p.Gln346=) rs63751715
NM_000249.3(MLH1):c.1038G>C (p.Gln346His) rs63751715
NM_000249.3(MLH1):c.1038G>T (p.Gln346His) rs63751715
NM_000249.3(MLH1):c.1039-1G>A rs267607819
NM_000249.3(MLH1):c.1039-2329_1409+827del
NM_000249.3(MLH1):c.1039-2A>G rs267607815
NM_000249.3(MLH1):c.1039-675_1409+26del
NM_000249.3(MLH1):c.1039-?_(*193_?)del
NM_000249.3(MLH1):c.1039-?_1409+?del
NM_000249.3(MLH1):c.1039-?_1558+?del
NM_000249.3(MLH1):c.104T>G (p.Met35Arg) rs63749906
NM_000249.3(MLH1):c.104_105insAA (p.Met35fs) rs587778882
NM_000249.3(MLH1):c.109G>A (p.Glu37Lys) rs63751012
NM_000249.3(MLH1):c.109G>T (p.Glu37Ter) rs63751012
NM_000249.3(MLH1):c.112A>C (p.Asn38His) rs63750580
NM_000249.3(MLH1):c.113A>C (p.Asn38Thr) rs587778888
NM_000249.3(MLH1):c.113A>G (p.Asn38Ser) rs587778888
NM_000249.3(MLH1):c.114C>G (p.Asn38Lys) rs267607706
NM_000249.3(MLH1):c.116+1G>A rs267607709
NM_000249.3(MLH1):c.116+5G>C rs267607710
NM_000249.3(MLH1):c.1163_1164ins4
NM_000249.3(MLH1):c.117-2A>G rs267607712
NM_000249.3(MLH1):c.117-691_306+1011del
NM_000249.3(MLH1):c.117-707_545+1338delinsTCCCGGGTTCAAGCGATTCT
NM_000249.3(MLH1):c.117-?_207+?del
NM_000249.3(MLH1):c.117-?_380+?del
NM_000249.3(MLH1):c.117-?_545+?del
NM_000249.3(MLH1):c.1171C>T (p.Gln391Ter) rs587778894
NM_000249.3(MLH1):c.1192C>T (p.Gln398Ter) rs63750483
NM_000249.3(MLH1):c.1219C>T (p.Gln407Ter) rs1057517541
NM_000249.3(MLH1):c.121G>C (p.Asp41His) rs267607713
NM_000249.3(MLH1):c.1225C>T (p.Gln409Ter) rs63751153
NM_000249.3(MLH1):c.122A>G (p.Asp41Gly) rs63751094
NM_000249.3(MLH1):c.1246A>T (p.Lys416Ter) rs267607823
NM_000249.3(MLH1):c.1276C>T (p.Gln426Ter) rs63750316
NM_000249.3(MLH1):c.131C>A (p.Ser44Tyr) rs63751109
NM_000249.3(MLH1):c.131C>T (p.Ser44Phe) rs63751109
NM_000249.3(MLH1):c.1325_1346del22ins5
NM_000249.3(MLH1):c.1358dup (p.Thr455fs) rs1553651429
NM_000249.3(MLH1):c.1381A>T (p.Lys461Ter) rs63750540
NM_000249.3(MLH1):c.1409+1127_1558+4255del
NM_000249.3(MLH1):c.1409+1156_1558+1385del
NM_000249.3(MLH1):c.1409+1G>C rs267607825
NM_000249.3(MLH1):c.1410-2_1410-1delinsCC rs1559558071
NM_000249.3(MLH1):c.1410-?_(*193_?)del
NM_000249.3(MLH1):c.1410-?_1558+?del
NM_000249.3(MLH1):c.1410-?_1731+?del
NM_000249.3(MLH1):c.1411_1414delAAGA rs63751592
NM_000249.3(MLH1):c.142C>T (p.Gln48Ter) rs587778913
NM_000249.3(MLH1):c.1441del (p.Met481fs) rs878853777
NM_000249.3(MLH1):c.1459C>T (p.Arg487Ter) rs63749795
NM_000249.3(MLH1):c.1462A>T (p.Lys488Ter) rs587778918
NM_000249.3(MLH1):c.146T>A (p.Val49Glu) rs63750098
NM_000249.3(MLH1):c.1528C>T (p.Gln510Ter) rs63749923
NM_000249.3(MLH1):c.1534G>T (p.Glu512Ter) rs63751472
NM_000249.3(MLH1):c.1549G>T (p.Gly517Ter) rs63751705
NM_000249.3(MLH1):c.1552_1553insT (p.His518fs) rs587778924
NM_000249.3(MLH1):c.1557_1558insT (p.Val520fs) rs587778926
NM_000249.3(MLH1):c.1558+1G>T rs267607832
NM_000249.3(MLH1):c.1558+1dup rs1553653237
NM_000249.3(MLH1):c.1559-1322_1668-391del
NM_000249.3(MLH1):c.1559-1G>T rs267607837
NM_000249.3(MLH1):c.1559-2A>G rs267607836
NM_000249.3(MLH1):c.1559-2A>T rs267607836
NM_000249.3(MLH1):c.1559-?_(*193_?)del
NM_000249.3(MLH1):c.1559-?_1667+?del
NM_000249.3(MLH1):c.1559-?_1731+?del
NM_000249.3(MLH1):c.1574T>A (p.Leu525Ter) rs587778929
NM_000249.3(MLH1):c.1609C>T (p.Gln537Ter) rs63751277
NM_000249.3(MLH1):c.1613G>A (p.Trp538Ter) rs587778933
NM_000249.3(MLH1):c.1614G>A (p.Trp538Ter) rs267607842
NM_000249.3(MLH1):c.1624C>T (p.Gln542Ter) rs63750192
NM_000249.3(MLH1):c.1640T>A (p.Leu547Ter) rs63750300
NM_000249.3(MLH1):c.1644C>G (p.Tyr548Ter) rs63751087
NM_000249.3(MLH1):c.1649T>C (p.Leu550Pro) rs63750193
NM_000249.3(MLH1):c.1664_1665insAAGT (p.Ser556_Glu557insTer) rs267607699
NM_000249.3(MLH1):c.1667+1_1667+8delinsATTT rs863223312
NM_000249.3(MLH1):c.1667+2T>C rs878853780
NM_000249.3(MLH1):c.1667+2_1667+8delinsATTT rs587778938
NM_000249.3(MLH1):c.1667G>T (p.Ser556Ile) rs63751596
NM_000249.3(MLH1):c.1668-1G>A rs267607845
NM_000249.3(MLH1):c.1668-?_1731+?del
NM_000249.3(MLH1):c.1668-?_1896+?del
NM_000249.3(MLH1):c.1669G>T (p.Glu557Ter) rs63751244
NM_000249.3(MLH1):c.1672G>T (p.Glu558Ter) rs63751081
NM_000249.3(MLH1):c.1683C>G (p.Tyr561Ter) rs63751393
NM_000249.3(MLH1):c.1684C>T (p.Gln562Ter) rs63751460
NM_000249.3(MLH1):c.1715_1716GT[1] (p.Val573fs) rs63751709
NM_000249.3(MLH1):c.1731+1G>A rs267607853
NM_000249.3(MLH1):c.1731+270_1896+73del
NM_000249.3(MLH1):c.1731+2T>C rs267607856
NM_000249.3(MLH1):c.1731+5G>A rs267607850
NM_000249.3(MLH1):c.1731+768_1897-222del
NM_000249.3(MLH1):c.1731G>A (p.Ser577=) rs63751657
NM_000249.3(MLH1):c.1732-1G>A rs267607854
NM_000249.3(MLH1):c.1732-2243_1896+404del
NM_000249.3(MLH1):c.1732-2A>T rs267607852
NM_000249.3(MLH1):c.1732-?_(*193_?)del
NM_000249.3(MLH1):c.1732-?_1896+?del
NM_000249.3(MLH1):c.1732-?_2103+?del
NM_000249.3(MLH1):c.1745T>C (p.Leu582Pro) rs63751616
NM_000249.3(MLH1):c.1769T>G (p.Leu590Ter) rs1553662753
NM_000249.3(MLH1):c.1790G>A (p.Trp597Ter) rs63750604
NM_000249.3(MLH1):c.1810A>T (p.Lys604Ter) rs63750386
NM_000249.3(MLH1):c.184C>T (p.Gln62Ter) rs63751428
NM_000249.3(MLH1):c.1852A>T (p.Lys618Ter) rs35001569
NM_000249.3(MLH1):c.1865T>A (p.Leu622His) rs63750693
NM_000249.3(MLH1):c.1865T>C (p.Leu622Pro) rs63750693
NM_000249.3(MLH1):c.1875T>G (p.Tyr625Ter) rs63751415
NM_000249.3(MLH1):c.1896G>A (p.Glu632=) rs63751632
NM_000249.3(MLH1):c.1897-?_1989+?del
NM_000249.3(MLH1):c.189C>A (p.Asp63Glu) rs587778955
NM_000249.3(MLH1):c.1912G>T (p.Gly638Ter) rs63750549
NM_000249.3(MLH1):c.1920_1921insT (p.Leu641fs) rs587778961
NM_000249.3(MLH1):c.1942C>T (p.Pro648Ser) rs63750899
NM_000249.3(MLH1):c.1961C>T (p.Pro654Leu) rs63750726
NM_000249.3(MLH1):c.1975C>T (p.Arg659Ter) rs63751310
NM_000249.3(MLH1):c.1976G>C (p.Arg659Pro) rs63749900
NM_000249.3(MLH1):c.1976G>T (p.Arg659Leu) rs63749900
NM_000249.3(MLH1):c.1979T>C (p.Leu660Pro) rs1559591546
NM_000249.3(MLH1):c.1986_1989+1delinsC rs267607873
NM_000249.3(MLH1):c.1989+1G>A rs267607879
NM_000249.3(MLH1):c.1989+1G>T rs267607879
NM_000249.3(MLH1):c.1989+5G>C rs267607878
NM_000249.3(MLH1):c.1989G>A (p.Glu663=) rs63751662
NM_000249.3(MLH1):c.1989G>T (p.Glu663Asp) rs63751662
NM_000249.3(MLH1):c.1990-1G>A rs267607884
NM_000249.3(MLH1):c.1990-2A>G rs267607883
NM_000249.3(MLH1):c.1990-?_(*193_?)del
NM_000249.3(MLH1):c.1998G>A (p.Trp666Ter) rs63750639
NM_000249.3(MLH1):c.199G>A (p.Gly67Arg) rs63750206
NM_000249.3(MLH1):c.199G>C (p.Gly67Arg) rs63750206
NM_000249.3(MLH1):c.199G>T (p.Gly67Trp) rs63750206
NM_000249.3(MLH1):c.1A>G (p.Met1Val) rs587778967
NM_000249.3(MLH1):c.200G>A (p.Gly67Glu) rs63749939
NM_000249.3(MLH1):c.2011G>T (p.Glu671Ter) rs63750663
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.2059C>T (p.Arg687Trp) rs63751275
NM_000249.3(MLH1):c.2065C>T (p.Gln689Ter) rs41542214
NM_000249.3(MLH1):c.207+1245_884+523dup
NM_000249.3(MLH1):c.207+1560_546-871del
NM_000249.3(MLH1):c.207+1G>A rs267607718
NM_000249.3(MLH1):c.207+5G>C rs587781518
NM_000249.3(MLH1):c.2078_2172del (p.Glu693fs)
NM_000249.3(MLH1):c.208-1G>A rs267607717
NM_000249.3(MLH1):c.208-1_208del rs587778973
NM_000249.3(MLH1):c.208-2A>G rs267607716
NM_000249.3(MLH1):c.208-?_306+?del
NM_000249.3(MLH1):c.208-?_453+?del
NM_000249.3(MLH1):c.208-?_545+?del
NM_000249.3(MLH1):c.208-?_790+?del
NM_000249.3(MLH1):c.2084C>A (p.Ser695Ter) rs63749995
NM_000249.3(MLH1):c.2093C>G (p.Ser698Ter) rs587778975
NM_000249.3(MLH1):c.2101C>T (p.Gln701Ter) rs63750114
NM_000249.3(MLH1):c.2103+1G>A rs267607888
NM_000249.3(MLH1):c.2103G>C (p.Gln701His) rs63750603
NM_000249.3(MLH1):c.2104-1G>A rs587778978
NM_000249.3(MLH1):c.2104-2A>T rs267607889
NM_000249.3(MLH1):c.2104-?_*(193_?)del
NM_000249.3(MLH1):c.2104_2105delAG rs63751651
NM_000249.3(MLH1):c.210_213delAGAA rs267607723
NM_000249.3(MLH1):c.211G>T (p.Glu71Ter) rs63749829
NM_000249.3(MLH1):c.2135G>A (p.Trp712Ter) rs63750561
NM_000249.3(MLH1):c.2136G>A (p.Trp712Ter) rs63750499
NM_000249.3(MLH1):c.2136del (p.Ser711_Trp712insTer) rs1060500706
NM_000249.3(MLH1):c.2141G>A (p.Trp714Ter) rs63751022
NM_000249.3(MLH1):c.2142G>A (p.Trp714Ter) rs63750978
NM_000249.3(MLH1):c.2145_2146TG[1] (p.Val716fs) rs587778981
NM_000249.3(MLH1):c.2152_2153CA[1] (p.Ile719fs) rs63750971
NM_000249.3(MLH1):c.2163T>A (p.Tyr721Ter) rs63750484
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.2221_2224delCTGCins30 (p.?)
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.2250C>G (p.Tyr750Ter) rs267607893
NM_000249.3(MLH1):c.2263A>G (p.Arg755Gly) rs267607900
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.256C>T (p.Gln86Ter) rs63751421
NM_000249.3(MLH1):c.265G>T (p.Glu89Ter) rs11541859
NM_000249.3(MLH1):c.298C>T (p.Arg100Ter) rs63751221
NM_000249.3(MLH1):c.299G>C (p.Arg100Pro) rs63750266
NM_000249.3(MLH1):c.2T>A (p.Met1Lys) rs111052004
NM_000249.3(MLH1):c.2T>C (p.Met1Thr) rs111052004
NM_000249.3(MLH1):c.2T>G (p.Met1Arg) rs111052004
NM_000249.3(MLH1):c.306+1G>A rs267607734
NM_000249.3(MLH1):c.306+2T>G rs1553640340
NM_000249.3(MLH1):c.306+2dup rs267607738
NM_000249.3(MLH1):c.306+5G>A rs267607735
NM_000249.3(MLH1):c.306G>C (p.Glu102Asp) rs63751665
NM_000249.3(MLH1):c.306G>T (p.Glu102Asp) rs63751665
NM_000249.3(MLH1):c.307-1420_380+624del
NM_000249.3(MLH1):c.307-245_454-365del
NM_000249.3(MLH1):c.307-797_677+1061del
NM_000249.3(MLH1):c.307-820_380+896del
NM_000249.3(MLH1):c.307-?_(*193_?)del
NM_000249.3(MLH1):c.307-?_1667+?dup
NM_000249.3(MLH1):c.307-?_380+?del
NM_000249.3(MLH1):c.307-?_545+?del
NM_000249.3(MLH1):c.320T>G (p.Ile107Arg) rs63750507
NM_000249.3(MLH1):c.322_335del (p.Ser108fs) rs1553641269
NM_000249.3(MLH1):c.350C>T (p.Thr117Met) rs63750781
NM_000249.3(MLH1):c.367A>T (p.Lys123Ter) rs63750542
NM_000249.3(MLH1):c.378C>G (p.Tyr126Ter) rs63751606
NM_000249.3(MLH1):c.37G>T (p.Glu13Ter) rs587779008
NM_000249.3(MLH1):c.380+1G>A rs267607745
NM_000249.3(MLH1):c.380+1G>T rs267607745
NM_000249.3(MLH1):c.380+2T>A rs267607742
NM_000249.3(MLH1):c.380G>A (p.Arg127Lys) rs63751595
NM_000249.3(MLH1):c.381-415_453+733del
NM_000249.3(MLH1):c.381-?_545+?del
NM_000249.3(MLH1):c.381-?_677+?del
NM_000249.3(MLH1):c.382G>C (p.Ala128Pro) rs63750866
NM_000249.3(MLH1):c.38_39insCCCA (p.Glu13fs) rs63750057
NM_000249.3(MLH1):c.392C>A (p.Ser131Ter) rs63749818
NM_000249.3(MLH1):c.397G>T (p.Gly133Ter) rs63751124
NM_000249.3(MLH1):c.3G>A (p.Met1Ile) rs72481822
NM_000249.3(MLH1):c.436C>T (p.Gln146Ter) rs63749820
NM_000249.3(MLH1):c.445C>T (p.Gln149Ter) rs63751302
NM_000249.3(MLH1):c.453+1G>T rs267607750
NM_000249.3(MLH1):c.453+2T>C rs267607751
NM_000249.3(MLH1):c.453+2T>G rs267607751
NM_000249.3(MLH1):c.454-1G>A rs193922370
NM_000249.3(MLH1):c.454-432_546-1030del
NM_000249.3(MLH1):c.454-466_546-1062del
NM_000249.3(MLH1):c.454-505_546-1102del
NM_000249.3(MLH1):c.454-665_545+49del rs1553642492
NM_000249.3(MLH1):c.454-?_1409+?dup
NM_000249.3(MLH1):c.454-?_545+?del
NM_000249.3(MLH1):c.456_545+2del rs1553642657
NM_000249.3(MLH1):c.464T>G (p.Leu155Arg) rs63750891
NM_000249.3(MLH1):c.497T>A (p.Leu166Ter) rs267607755
NM_000249.3(MLH1):c.512_513insAlu
NM_000249.3(MLH1):c.524_525insGA (p.Ile176fs) rs587779019
NM_000249.3(MLH1):c.543C>T (p.Gly181=) rs1481129490
NM_000249.3(MLH1):c.544A>G (p.Arg182Gly) rs63750211
NM_000249.3(MLH1):c.545+1G>A rs267607765
NM_000249.3(MLH1):c.545+3A>G rs267607760
NM_000249.3(MLH1):c.545G>A (p.Arg182Lys) rs587779021
NM_000249.3(MLH1):c.546-2A>C rs267607759
NM_000249.3(MLH1):c.546-2A>G rs267607759
NM_000249.3(MLH1):c.546-361_885-811del
NM_000249.3(MLH1):c.546-?_1409+?dup
NM_000249.3(MLH1):c.546-?_677+?del
NM_000249.3(MLH1):c.546-?_790+?del
NM_000249.3(MLH1):c.554T>G (p.Val185Gly) rs63750515
NM_000249.3(MLH1):c.55A>T (p.Ile19Phe) rs63750648
NM_000249.3(MLH1):c.578C>G (p.Ser193Ter) rs63751480
NM_000249.3(MLH1):c.586A>T (p.Lys196Ter) rs63750500
NM_000249.3(MLH1):c.588+1G>T rs267607772
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.5C>A (p.Ser2Ter) rs587779029
NM_000249.3(MLH1):c.62C>A (p.Ala21Glu) rs63750706
NM_000249.3(MLH1):c.62C>T (p.Ala21Val) rs63750706
NM_000249.3(MLH1):c.632_633insT (p.Thr212fs) rs63750908
NM_000249.3(MLH1):c.676C>T (p.Arg226Ter) rs63751615
NM_000249.3(MLH1):c.677+1G>T rs267607778
NM_000249.3(MLH1):c.677+3A>G rs267607780
NM_000249.3(MLH1):c.677G>A (p.Arg226Gln) rs63751711
NM_000249.3(MLH1):c.677G>T (p.Arg226Leu) rs63751711
NM_000249.3(MLH1):c.677_677+1delinsAT rs587779032
NM_000249.3(MLH1):c.678-1G>C rs267607784
NM_000249.3(MLH1):c.678-3_678-2del rs267607783
NM_000249.3(MLH1):c.678-9_693del rs587779036
NM_000249.3(MLH1):c.678-?_1558+?del
NM_000249.3(MLH1):c.678-?_884+?del
NM_000249.3(MLH1):c.67G>T (p.Glu23Ter) rs63750823
NM_000249.3(MLH1):c.699T>A (p.Cys233Ter) rs764085979
NM_000249.3(MLH1):c.731G>A (p.Gly244Asp) rs63750303
NM_000249.3(MLH1):c.739T>C (p.Ser247Pro) rs63750948
NM_000249.3(MLH1):c.755C>A (p.Ser252Ter) rs63750198
NM_000249.3(MLH1):c.76C>T (p.Gln26Ter) rs63749827
NM_000249.3(MLH1):c.779T>G (p.Leu260Arg) rs63751283
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+2T>C rs267607790
NM_000249.3(MLH1):c.790+2dup rs267607791
NM_000249.3(MLH1):c.790+3A>T rs267607792
NM_000249.3(MLH1):c.790+4A>G rs267607786
NM_000249.3(MLH1):c.790+5G>A rs267607771
NM_000249.3(MLH1):c.790+5G>T rs267607771
NM_000249.3(MLH1):c.791-1G>A rs267607795
NM_000249.3(MLH1):c.791-1G>C rs267607795
NM_000249.3(MLH1):c.791-4_795del rs587779041
NM_000249.3(MLH1):c.791-5T>G rs267607788
NM_000249.3(MLH1):c.791-?_1558+?del
NM_000249.3(MLH1):c.791-?_884+?del
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.806C>G (p.Ser269Ter) rs63750691
NM_000249.3(MLH1):c.827T>G (p.Ile276Arg) rs1253275403
NM_000249.3(MLH1):c.827_831del (p.Ile276fs) rs1553646669
NM_000249.3(MLH1):c.83C>T (p.Pro28Leu) rs63750792
NM_000249.3(MLH1):c.840T>A (p.Tyr280Ter) rs63750938
NM_000249.3(MLH1):c.842C>T (p.Ala281Val) rs63749950
NM_000249.3(MLH1):c.851T>A (p.Leu284Ter) rs63750889
NM_000249.3(MLH1):c.856_857insT (p.Lys286fs) rs63750212
NM_000249.3(MLH1):c.86C>G (p.Ala29Gly) rs63750216
NM_000249.3(MLH1):c.882C>T (p.Leu294=) rs63751707
NM_000249.3(MLH1):c.883A>C (p.Ser295Arg) rs63751598
NM_000249.3(MLH1):c.883A>G (p.Ser295Gly) rs63751598
NM_000249.3(MLH1):c.884+4A>G rs267607777
NM_000249.3(MLH1):c.884G>A (p.Ser295Asn) rs63750144
NM_000249.3(MLH1):c.884_884+3del rs587779050
NM_000249.3(MLH1):c.885-1G>A rs1553647894
NM_000249.3(MLH1):c.885-206_997del rs1553647795
NM_000249.3(MLH1):c.885-493_1039-372del
NM_000249.3(MLH1):c.885-594_1038+1123del
NM_000249.3(MLH1):c.885-?_(*193_?)del
NM_000249.3(MLH1):c.885-?_1038+?del
NM_000249.3(MLH1):c.885-?_1731+?del
NM_000249.3(MLH1):c.887T>G (p.Leu296Ter) rs63750547
NM_000249.3(MLH1):c.889G>T (p.Glu297Ter) rs63750736
NM_000249.3(MLH1):c.898_908del (p.Pro300fs) rs1553647928
NM_000249.3(MLH1):c.901C>T (p.Gln301Ter) rs63750489
NM_000249.3(MLH1):c.918T>A (p.Asn306Lys) rs587779054
NM_000249.3(MLH1):c.955G>T (p.Glu319Ter) rs63750796
NM_000249.3(MLH1):c.963_1014dup (p.Ser339fs) rs1553648058
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.[-27C>A;85G>T]
NM_000249.3(MLH1):c.[453+625_545+921delinsTG;545+1271_677+737delinsCA]
NM_000249.4(MLH1):c.1347_1367delinsTAAA (p.Asp450fs) rs587778905
NM_000249.4(MLH1):c.208-1714_306+641delinsACATAGTA
NM_000249.4(MLH1):c.382_402delinsT (p.Ala128fs) rs267607746
NM_001167617.2(MLH1):c.-100_-99del rs63750469
NM_001167617.2(MLH1):c.-115dup rs587778944
NM_001167617.2(MLH1):c.-129del rs63751266
NM_001167617.2(MLH1):c.-133_-130GAGG[1] rs587778932
NM_001167617.2(MLH1):c.-134del rs63750028
NM_001167617.2(MLH1):c.-134dup rs63750028
NM_001167617.2(MLH1):c.-135_-132del rs587778923
NM_001167617.2(MLH1):c.-137dup rs587778922
NM_001167617.2(MLH1):c.-140dup rs63749956
NM_001167617.2(MLH1):c.-161dup rs63750867
NM_001167617.2(MLH1):c.-162_-159dup rs63751431
NM_001167617.2(MLH1):c.-171del rs587778896
NM_001167617.2(MLH1):c.-22del rs1060500688
NM_001167617.2(MLH1):c.-29del rs267607728
NM_001167617.2(MLH1):c.-413_-412delinsAC rs121912965
NM_001167617.2(MLH1):c.-417_-416GA[1] rs63749813
NM_001167617.2(MLH1):c.-433del rs587779045
NM_001167617.2(MLH1):c.-439del rs587779040
NM_001167617.2(MLH1):c.-441del rs63749828
NM_001167617.2(MLH1):c.-444del rs63749839
NM_001167617.2(MLH1):c.-447del rs63751396
NM_001167617.2(MLH1):c.-450del rs63750822
NM_001167617.2(MLH1):c.-456del rs63750581
NM_001167617.2(MLH1):c.-465del rs63749804
NM_001167617.2(MLH1):c.-46A>G rs587778998
NM_001167617.2(MLH1):c.-46dup rs267607729
NM_001167617.2(MLH1):c.-473dup rs63751131
NM_001167617.2(MLH1):c.-479dup rs63750057
NM_001167617.2(MLH1):c.-480_-479GA[3] rs587779013
NM_001167617.2(MLH1):c.-480del rs63750081
NM_001167617.2(MLH1):c.-486del rs63749816
NM_001167617.2(MLH1):c.-492_-491delinsTA rs869312767
NM_001167617.2(MLH1):c.-495dup rs587778996
NM_001167617.2(MLH1):c.-498_-482del rs267607702
NM_001167617.2(MLH1):c.-499_-483del rs63751892
NM_001167617.2(MLH1):c.-502_-489del rs63751891
NM_001167617.2(MLH1):c.-508del rs63750745
NM_001167617.2(MLH1):c.-58del rs587778997
NM_001167617.2(MLH1):c.-61_-60TG[1] rs63750052
NM_001167617.2(MLH1):c.-80_-78AGA[1] rs63751642
NM_001167617.2(MLH1):c.-85del rs63751704
NM_001167617.2(MLH1):c.-89del rs587778968
NM_001167617.2(MLH1):c.-92dup rs587778966
NM_001167617.2(MLH1):c.-95del rs267607715
NM_001167617.2(MLH1):c.-99dup rs63751255
NM_001167617.2(MLH1):c.1016del (p.Pro339fs) rs63750748
NM_001167617.2(MLH1):c.1031_1052delinsATTTT (p.Ala344fs) rs587778903
NM_001167617.2(MLH1):c.1040del (p.Gln347fs) rs63749845
NM_001167617.2(MLH1):c.1049del (p.Glu350fs) rs63749981
NM_001167617.2(MLH1):c.1054dup (p.Asp352fs) rs587778906
NM_001167617.2(MLH1):c.1060del (p.Thr354fs) rs63750071
NM_001167617.2(MLH1):c.1068del (p.Thr357fs) rs267607821
NM_001167617.2(MLH1):c.1068dup (p.Thr357fs) rs267607821
NM_001167617.2(MLH1):c.1083del (p.Glu362fs) rs587778908
NM_001167617.2(MLH1):c.1083dup (p.Glu362fs) rs63750020
NM_001167617.2(MLH1):c.1084_1085GA[1] (p.Lys363fs) rs587778909
NM_001167617.2(MLH1):c.1104del (p.Ser369fs) rs63750713
NM_001167617.2(MLH1):c.1118dup (p.Arg374fs) rs63751677
NM_001167617.2(MLH1):c.1119_1120GA[1] (p.Arg374fs) rs281864936
NM_001167617.2(MLH1):c.1119_1122del (p.Lys373fs) rs281864936
NM_001167617.2(MLH1):c.1120dup (p.Arg374fs) rs63751468
NM_001167617.2(MLH1):c.1121_1133del (p.Arg374fs) rs587778912
NM_001167617.2(MLH1):c.1126del (p.Arg376fs) rs63750482
NM_001167617.2(MLH1):c.1155del (p.Asp386fs) rs587778915
NM_001167617.2(MLH1):c.1169del (p.Lys390fs) rs63749876
NM_001167617.2(MLH1):c.1170_1174del (p.Lys390fs) rs587778919
NM_001167617.2(MLH1):c.1195del (p.Arg399fs) rs63750855
NM_001167617.2(MLH1):c.1195dup (p.Arg399fs) rs63750855
NM_001167617.2(MLH1):c.1197del (p.Arg400fs) rs63751435
NM_001167617.2(MLH1):c.1206_1208del (p.Ile403del) rs587778920
NM_001167617.2(MLH1):c.1226del (p.Val408_Leu409insTer) rs63749916
NM_001167617.2(MLH1):c.1226dup (p.Leu409fs) rs63749916
NM_001167617.2(MLH1):c.1248dup (p.Glu417Ter) rs63750317
NM_001167617.2(MLH1):c.1258del (p.His420fs) rs587778925
NM_001167617.2(MLH1):c.1260dup (p.Glu421Ter) rs63751689
NM_001167617.2(MLH1):c.1278_1279del (p.Met426fs) rs587778928
NM_001167617.2(MLH1):c.1279_1280del (p.Leu427fs) rs63751613
NM_001167617.2(MLH1):c.1294_1296del (p.Phe432del) rs587778930
NM_001167617.2(MLH1):c.1298_1299del (p.Val433fs) rs587778931
NM_001167617.2(MLH1):c.1326_1327del (p.Leu442fs) rs63750036
NM_001167617.2(MLH1):c.1328del (p.Ala443fs) rs63750824
NM_001167617.2(MLH1):c.1345_1349dup (p.Leu451fs) rs587778934
NM_001167617.2(MLH1):c.1374del (p.Ser458fs) rs587778939
NM_001167617.2(MLH1):c.1395dup (p.Leu466fs) rs63750464
NM_001167617.2(MLH1):c.1396_1399del (p.Leu466fs) rs267607849
NM_001167617.2(MLH1):c.1431del (p.Arg477fs) rs63751685
NM_001167617.2(MLH1):c.1811_1820del (p.Ser604fs) rs587778979
NM_001167617.2(MLH1):c.1817_1823del (p.Val606fs) rs587778980
NM_001167617.2(MLH1):c.1855_1901dup (p.His635fs) rs587778982
NM_001167617.2(MLH1):c.1858_1859CA[3] (p.Ile621fs) rs63750971
NM_001167617.2(MLH1):c.1863dup (p.Val622fs) rs587778984
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.1924dup (p.Ile642fs) rs587778989
NM_001167617.2(MLH1):c.1929_1939del (p.Gln644fs) rs267607897
NM_001167617.2(MLH1):c.1930del (p.Gln644fs) rs267607896
NM_001167617.2(MLH1):c.1958_1959del (p.Lys653fs) rs267607901
NM_001167617.2(MLH1):c.1972_1975dup (p.Ter659LeuextTer?) rs267607892
NM_001167617.2(MLH1):c.1975dup (p.Ter659LeuextTer?) rs1553666143
NM_001167617.2(MLH1):c.383+1del rs267607779
NM_001167617.2(MLH1):c.807del (p.Ser270fs) rs63750715
NM_001167617.2(MLH1):c.834_835dup (p.Lys279fs) rs63750305
NM_001167617.2(MLH1):c.838_840delinsA (p.Val280fs) rs587778887
NM_001167617.2(MLH1):c.851dup (p.Met285fs) rs587778889
NM_001167617.2(MLH1):c.856del (p.Val286fs) rs63749965
NM_001167617.2(MLH1):c.896del (p.Leu299fs) rs63750749
NM_001167617.2(MLH1):c.916_917del (p.Leu306fs) rs63751015
NM_001167617.2(MLH1):c.916dup (p.Leu306fs) rs587778898
NM_001167617.2(MLH1):c.923_929dup (p.Gln311fs) rs587778899
NM_001167617.2(MLH1):c.924del (p.Gln309fs) rs587778900
NM_001167617.2(MLH1):c.942_943CA[1] (p.Thr315fs) rs1553651073
NM_001167617.2(MLH1):c.958_959del (p.Asp320fs) rs63751118
NM_001167617.2(MLH1):c.967del (p.Ser323fs) rs63750293
NM_001167618.2(MLH1):c.-120del rs1553644155
NM_001167618.2(MLH1):c.-131_-130GA[2] rs63751637
NM_001167618.2(MLH1):c.-136del rs63751653
NM_001167618.2(MLH1):c.-18_2del (p.Met1fs) rs863224480
NM_001167618.2(MLH1):c.-193_-192delinsAT rs63750903
NM_001167618.2(MLH1):c.-193_-192delinsCT rs63750903
NM_001167618.2(MLH1):c.-1_3AATG[1] (p.Asn2fs) rs267607787
NM_001167618.2(MLH1):c.-210G>T rs1559524405
NM_001167618.2(MLH1):c.-211del rs63749944
NM_001167618.2(MLH1):c.-221dup rs63749959
NM_001167618.2(MLH1):c.-222_-221del rs63749959
NM_001167618.2(MLH1):c.-227del rs587779018
NM_001167618.2(MLH1):c.-232del rs1553642698
NM_001167618.2(MLH1):c.-236del rs267607754
NM_001167618.2(MLH1):c.-256_-255del rs63751101
NM_001167618.2(MLH1):c.-296dup rs63751045
NM_001167618.2(MLH1):c.-304del rs587779015
NM_001167618.2(MLH1):c.-31del rs63750764
NM_001167618.2(MLH1):c.-320_-317del rs587779014
NM_001167618.2(MLH1):c.-335del rs587779012
NM_001167618.2(MLH1):c.-336del rs587779009
NM_001167618.2(MLH1):c.-339_-338delinsGTT rs63751710
NM_001167618.2(MLH1):c.-342del rs63750865
NM_001167618.2(MLH1):c.-346del rs63751607
NM_001167618.2(MLH1):c.-354_-353TG[1] rs587779006
NM_001167618.2(MLH1):c.-370_-369dup rs63750658
NM_001167618.2(MLH1):c.-378del rs63750906
NM_001167618.2(MLH1):c.-378dup rs267607739
NM_001167618.2(MLH1):c.-383del rs63750645
NM_001167618.2(MLH1):c.-41dup rs63751659
NM_001167618.2(MLH1):c.-51_-48del rs267607774
NM_001167618.2(MLH1):c.-52del rs587779031
NM_001167618.2(MLH1):c.-59del rs63750385
NM_001167618.2(MLH1):c.-59dup rs63750385
NM_001167618.2(MLH1):c.-75del rs63750380
NM_001258271.1(MLH1):c.1896+1231dup rs63750282
NM_001258271.1(MLH1):c.1896+1237_1896+1241del rs63750061
NM_001258271.1(MLH1):c.1896+1240_1896+1244del rs1553664353
NM_001258271.1(MLH1):c.1896+1240del rs63750740
NM_001258271.1(MLH1):c.1896+1298_1896+1304del rs63750420
NM_001258271.1(MLH1):c.1896+1307_1896+1308del rs63750769
NM_001258271.1(MLH1):c.1896+1323_1896+1324del rs63750859
NM_001258271.1(MLH1):c.1896+1330_1896+1333del rs63751652
NM_001258271.1(MLH1):c.1896+839del rs587778956
NM_001258271.1(MLH1):c.1896+841dup rs587778957
NM_001258271.1(MLH1):c.1896+850_1896+863dup rs587778958
NM_001258271.1(MLH1):c.1896+851_1896+879dup rs587778959
NM_001258271.1(MLH1):c.1896+853dup rs587778960
NM_001258271.1(MLH1):c.1896+867del rs587778962
NM_001258271.1(MLH1):c.1896+883del rs281864938
NM_001258271.1(MLH1):c.1896+890_1896+893del rs63751301
NM_001258271.1(MLH1):c.1896+908del rs63750115
NM_001258271.1(MLH1):c.1896+912_1896+913del rs63750131
NM_001258271.1(MLH1):c.1896+913_1896+914del rs63751200
NM_001258271.1(MLH1):c.1896+925del rs267607877
NM_001354621.1(MLH1):c.-103_-102dup rs63750962
NM_001354621.1(MLH1):c.-118_-117TG[1] rs1553647947
NM_001354621.1(MLH1):c.-123del rs587779052
NM_001354621.1(MLH1):c.-136del rs267607809
NM_001354621.1(MLH1):c.-137dup rs63751620
NM_001354621.1(MLH1):c.-139-2735AC[3] rs587779047
NM_001354621.1(MLH1):c.-139-2735AC[5] rs587779047
NM_001354621.1(MLH1):c.-139-2735del rs63750034
NM_001354621.1(MLH1):c.-139-2735dup rs63750034
NM_001354621.1(MLH1):c.-139-2736_-139-2735del rs63750034
NM_001354621.1(MLH1):c.-139-2769dup rs878853792
NM_001354621.1(MLH1):c.-139-2774_-139-2771dup rs63751439
NM_001354621.1(MLH1):c.-139-2784_-139-2780del rs587779043
NM_001354621.1(MLH1):c.-139-2787_-139-2784del rs267607801
NM_001354621.1(MLH1):c.-139-2802_-139-2801delinsGT rs1559539068
NM_001354621.1(MLH1):c.-139-2804_-139-2801del rs267607799
NM_001354621.1(MLH1):c.-13del rs63750677
NM_001354621.1(MLH1):c.-13dup rs63750677
NM_001354621.1(MLH1):c.-140+2386_-140+2389del rs587779037
NM_001354621.1(MLH1):c.-140+2400dup rs63750819
NM_001354621.1(MLH1):c.-140+2408_-140+2410del rs1553645256
NM_001354621.1(MLH1):c.-140+2440_-140+2442del rs587779039
NM_001354621.1(MLH1):c.-17del rs63750434
NM_001354621.1(MLH1):c.-1del rs63749837
NM_001354621.1(MLH1):c.-30del rs63750533
NM_001354621.1(MLH1):c.-65_-64AG[3] rs878853794
NM_001354621.1(MLH1):c.-70del rs63749926
NM_001354621.1(MLH1):c.-75del rs1553648029
NM_001354621.1(MLH1):c.-7del rs63750339
NM_001354621.1(MLH1):c.-85dup rs63751259
NM_001354621.1(MLH1):c.-89dup rs63750319
NM_001354621.1(MLH1):c.-96del rs587779055
NM_001354624.1(MLH1):c.-14del rs63750472
NM_001354624.1(MLH1):c.-25del rs587778883
NM_001354624.1(MLH1):c.-28dup rs1060500707
NM_001354624.1(MLH1):c.-29dup rs267607822
NM_001354624.1(MLH1):c.-32del rs1060500703
NM_001354624.1(MLH1):c.-36-5186dup rs587778881
NM_001354624.1(MLH1):c.-3_4del (p.Met1fs) rs1060500692
NM_001354624.1(MLH1):c.-3del rs587778885
NM_001354624.1(MLH1):c.-4_4del (p.Met1fs) rs587778884
NM_001354630.1(MLH1):c.1732-837del rs587778954
NM_001354630.1(MLH1):c.1732-846_1732-842del rs63751639
NM_001354630.1(MLH1):c.1732-850_1732-847del rs587778953
NM_001354630.1(MLH1):c.1732-853_1732-847del rs63751594
NM_001354630.1(MLH1):c.1732-853del rs63750152
NM_001354630.1(MLH1):c.1732-864del rs587778950
NM_001354630.1(MLH1):c.1732-875del rs63749986
NM_001354630.1(MLH1):c.1732-877delinsTTCTT rs587778949
NM_001354630.1(MLH1):c.1732-877dup rs1060500687
NM_001354630.1(MLH1):c.1732-885GAA[2] rs63751247
NM_001354630.1(MLH1):c.1732-899_1732-898del rs63750150
NM_001354630.1(MLH1):c.1732-901_1732-898dup rs587778948
NM_001354630.1(MLH1):c.1732-909dup rs587778947
NM_001354630.1(MLH1):c.1732-918dup rs63751240
NM_001354630.1(MLH1):c.1732-930_1732-912del rs587778946
NM_001354630.1(MLH1):c.1732-940_1732-939delinsATCTGGACC rs863225378
NM_001354630.1(MLH1):c.1732-951AG[2] rs63750035
NM_001354630.1(MLH1):c.1732-952_1732-951del rs63750375
NM_001354630.1(MLH1):c.1732-958_1732-955del rs63749868
NM_001354630.1(MLH1):c.1732-961del rs63749979
NM_001354630.1(MLH1):c.1732-966del rs63751486
NM_001354630.1(MLH1):c.1732-972del rs63749863
NM_001354630.1(MLH1):c.1732-972dup rs63749863
NM_001354630.1(MLH1):c.1732-981del rs63750309
NM_001354630.1(MLH1):c.1732-982_1732-981del rs63750309
NM_001354630.1(MLH1):c.1732-985del rs587778942

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