ClinVar Miner

List of variants in gene MLH1 reported as uncertain significance for Lynch syndrome

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 245
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HGVS dbSNP
NM_000249.3(MLH1):c.*32C>T rs200903126
NM_000249.3(MLH1):c.*3A>G rs587778880
NM_000249.3(MLH1):c.-101C>G rs772482820
NM_000249.3(MLH1):c.-114T>C rs886058380
NM_000249.3(MLH1):c.-117G>T rs565891017
NM_000249.3(MLH1):c.-22C>T rs771060933
NM_000249.3(MLH1):c.-27C>T rs587779001
NM_000249.3(MLH1):c.-28A>G rs56198082
NM_000249.3(MLH1):c.-42C>T rs41285097
NM_000249.3(MLH1):c.-86G>A rs558051715
NM_000249.3(MLH1):c.-93G>A rs1800734
NM_000249.3(MLH1):c.1007G>A (p.Gly336Asp) rs587781750
NM_000249.3(MLH1):c.1010C>G (p.Ser337Cys) rs763847201
NM_000249.3(MLH1):c.1013A>G (p.Asn338Ser) rs63751467
NM_000249.3(MLH1):c.1026G>A (p.Met342Ile) rs1060500704
NM_000249.3(MLH1):c.1038+15C>T rs886058382
NM_000249.3(MLH1):c.1038+4A>C rs1251478879
NM_000249.3(MLH1):c.1038+8C>T rs751872237
NM_000249.3(MLH1):c.1039-3C>G rs730881737
NM_000249.3(MLH1):c.1039-8T>A rs193922367
NM_000249.3(MLH1):c.1039-8_1039-7insTTTTAA rs535965616
NM_000249.3(MLH1):c.1078G>T (p.Val360Phe) rs878853775
NM_000249.3(MLH1):c.1090A>G (p.Thr364Ala) rs63749864
NM_000249.3(MLH1):c.1103C>T (p.Ser368Leu) rs201673334
NM_000249.3(MLH1):c.1104G>A (p.Ser368=) rs769364808
NM_000249.3(MLH1):c.1111A>T (p.Thr371Ser) rs762426947
NM_000249.3(MLH1):c.1117G>A (p.Gly373Arg) rs766904735
NM_000249.3(MLH1):c.1118G>A (p.Gly373Glu) rs774878513
NM_000249.3(MLH1):c.111G>T (p.Glu37Asp) rs864622485
NM_000249.3(MLH1):c.1122T>G (p.Ser374Arg) rs759868546
NM_000249.3(MLH1):c.1136A>G (p.Tyr379Cys) rs143009528
NM_000249.3(MLH1):c.1146G>C (p.Gln382His) rs876658801
NM_000249.3(MLH1):c.1148T>C (p.Met383Thr) rs141344760
NM_000249.3(MLH1):c.1153C>T (p.Arg385Cys) rs63750760
NM_000249.3(MLH1):c.1154G>A (p.Arg385His) rs63750430
NM_000249.3(MLH1):c.116+5G>A rs267607710
NM_000249.3(MLH1):c.1165C>T (p.Arg389Trp) rs61751644
NM_000249.3(MLH1):c.1166G>A (p.Arg389Gln) rs63750361
NM_000249.3(MLH1):c.116G>A (p.Cys39Tyr) rs63751701
NM_000249.3(MLH1):c.116G>T (p.Cys39Phe) rs63751701
NM_000249.3(MLH1):c.1175A>G (p.Lys392Arg) rs587780678
NM_000249.3(MLH1):c.1202G>A (p.Ser401Asn) rs587779951
NM_000249.3(MLH1):c.1216A>G (p.Ser406Gly) rs864622687
NM_000249.3(MLH1):c.1232T>G (p.Ile411Ser) rs786201951
NM_000249.3(MLH1):c.1243G>A (p.Asp415Asn) rs373767220
NM_000249.3(MLH1):c.1253A>G (p.Asp418Gly) rs754898711
NM_000249.3(MLH1):c.125C>T (p.Ala42Val) rs587778901
NM_000249.3(MLH1):c.1261A>G (p.Ser421Gly) rs755898663
NM_000249.3(MLH1):c.1268G>A (p.Arg423Lys) rs370687064
NM_000249.3(MLH1):c.1269G>A (p.Arg423=) rs373076967
NM_000249.3(MLH1):c.1270G>A (p.Ala424Thr) rs377433038
NM_000249.3(MLH1):c.1297G>C (p.Glu433Gln) rs63750443
NM_000249.3(MLH1):c.12G>A (p.Val4=) rs864622700
NM_000249.3(MLH1):c.1318G>A (p.Val440Met) rs864622250
NM_000249.3(MLH1):c.1321G>A (p.Ala441Thr) rs63750365
NM_000249.3(MLH1):c.1327A>C (p.Lys443Gln) rs34213726
NM_000249.3(MLH1):c.133A>G (p.Thr45Ala) rs876658416
NM_000249.3(MLH1):c.1344G>T (p.Glu448Asp) rs587779952
NM_000249.3(MLH1):c.1344_1349del (p.Glu448_Gly449del) rs1060500705
NM_000249.3(MLH1):c.1351A>G (p.Thr451Ala) rs864622145
NM_000249.3(MLH1):c.1379A>C (p.Glu460Ala) rs202038499
NM_000249.3(MLH1):c.1392T>C (p.Pro464=) rs63750201
NM_000249.3(MLH1):c.139A>G (p.Ile47Val) rs1559505924
NM_000249.3(MLH1):c.1410-8C>T rs1057521668
NM_000249.3(MLH1):c.1420C>G (p.Arg474Gly) rs147939838
NM_000249.3(MLH1):c.1420C>T (p.Arg474Trp) rs147939838
NM_000249.3(MLH1):c.1421G>A (p.Arg474Gln) rs63751083
NM_000249.3(MLH1):c.144A>C (p.Gln48His) rs147342421
NM_000249.3(MLH1):c.1450G>T (p.Asp484Tyr) rs730881741
NM_000249.3(MLH1):c.1453G>T (p.Asp485Tyr) rs63750314
NM_000249.3(MLH1):c.1460G>T (p.Arg487Leu) rs587778917
NM_000249.3(MLH1):c.1470G>C (p.Met490Ile) rs1060500708
NM_000249.3(MLH1):c.1487C>G (p.Pro496Arg) rs63750226
NM_000249.3(MLH1):c.1487C>T (p.Pro496Leu) rs63750226
NM_000249.3(MLH1):c.1502T>G (p.Ile501Ser) rs587780679
NM_000249.3(MLH1):c.1514G>A (p.Ser505Asn) rs771044689
NM_000249.3(MLH1):c.1521G>C (p.Leu507Phe) rs863224633
NM_000249.3(MLH1):c.1524T>G (p.Ser508Arg) rs886058383
NM_000249.3(MLH1):c.1541A>G (p.Asn514Ser) rs772245091
NM_000249.3(MLH1):c.1558+14G>A rs41562513
NM_000249.3(MLH1):c.1558+4C>T rs531873434
NM_000249.3(MLH1):c.1558+5G>A rs199935667
NM_000249.3(MLH1):c.1559-11T>C rs730881750
NM_000249.3(MLH1):c.1564C>T (p.Arg522Trp) rs63751703
NM_000249.3(MLH1):c.1565G>A (p.Arg522Gln) rs63751630
NM_000249.3(MLH1):c.1572G>T (p.Met524Ile) rs587779953
NM_000249.3(MLH1):c.1591G>A (p.Val531Met) rs764663152
NM_000249.3(MLH1):c.1612T>G (p.Trp538Gly) rs1559575214
NM_000249.3(MLH1):c.1615G>T (p.Ala539Ser) rs1559575256
NM_000249.3(MLH1):c.1628A>G (p.His543Arg) rs730881742
NM_000249.3(MLH1):c.1633A>G (p.Thr545Ala) rs267607840
NM_000249.3(MLH1):c.1636A>G (p.Lys546Glu) rs1046979393
NM_000249.3(MLH1):c.1637A>G (p.Lys546Arg) rs587779954
NM_000249.3(MLH1):c.1668-5T>G rs1559578408
NM_000249.3(MLH1):c.1668-?_2103+?dup
NM_000249.3(MLH1):c.1676T>G (p.Leu559Arg) rs63750059
NM_000249.3(MLH1):c.1682A>G (p.Tyr561Cys) rs1289807424
NM_000249.3(MLH1):c.1685A>C (p.Gln562Pro) rs1553659377
NM_000249.3(MLH1):c.1690C>T (p.Leu564Phe) rs786202693
NM_000249.3(MLH1):c.1698T>C (p.Tyr566=) rs876658915
NM_000249.3(MLH1):c.1709A>G (p.Asn570Ser) rs375853155
NM_000249.3(MLH1):c.1730C>T (p.Ser577Leu) rs56185292
NM_000249.3(MLH1):c.1731+11A>T rs886058384
NM_000249.3(MLH1):c.1731+1G>C rs267607853
NM_000249.3(MLH1):c.1731+5G>A rs267607850
NM_000249.3(MLH1):c.1731+6T>G rs587778940
NM_000249.3(MLH1):c.1732-?_*193dup733
NM_000249.3(MLH1):c.1733A>G (p.Glu578Gly) rs63751612
NM_000249.3(MLH1):c.1738G>C (p.Ala580Pro) rs864622530
NM_000249.3(MLH1):c.1763T>C (p.Leu588Pro) rs63750575
NM_000249.3(MLH1):c.176T>A (p.Ile59Asn) rs1559506199
NM_000249.3(MLH1):c.1775G>A (p.Ser592Asn) rs587782621
NM_000249.3(MLH1):c.1775G>C (p.Ser592Thr) rs587782621
NM_000249.3(MLH1):c.1823C>A (p.Ala608Asp) rs267607864
NM_000249.3(MLH1):c.1853A>T (p.Lys618Met) rs63750449
NM_000249.3(MLH1):c.1865T>C (p.Leu622Pro) rs63750693
NM_000249.3(MLH1):c.186A>G (p.Gln62=) rs1559506261
NM_000249.3(MLH1):c.1876T>C (p.Phe626Leu) rs377241633
NM_000249.3(MLH1):c.1889T>A (p.Ile630Asn) rs1559588836
NM_000249.3(MLH1):c.1896+17T>C rs193922368
NM_000249.3(MLH1):c.1896+5G>A rs759870594
NM_000249.3(MLH1):c.1897-7C>T rs373078652
NM_000249.3(MLH1):c.1906C>G (p.Leu636Val) rs864622673
NM_000249.3(MLH1):c.191A>G (p.Asn64Ser) rs63750952
NM_000249.3(MLH1):c.1925T>A (p.Leu642Gln) rs1559590916
NM_000249.3(MLH1):c.1937A>C (p.Tyr646Ser) rs35045067
NM_000249.3(MLH1):c.1937A>G (p.Tyr646Cys) rs35045067
NM_000249.3(MLH1):c.194G>A (p.Gly65Asp) rs63751465
NM_000249.3(MLH1):c.194G>T (p.Gly65Val) rs63751465
NM_000249.3(MLH1):c.1964T>C (p.Ile655Thr) rs63751225
NM_000249.3(MLH1):c.1988A>C (p.Glu663Ala) rs63751682
NM_000249.3(MLH1):c.1990-6G>A rs117221851
NM_000249.3(MLH1):c.1997G>C (p.Trp666Ser) rs886039424
NM_000249.3(MLH1):c.2024G>T (p.Ser675Ile) rs781637991
NM_000249.3(MLH1):c.2027T>C (p.Leu676Pro) rs63750242
NM_000249.3(MLH1):c.2030G>A (p.Ser677Asn) rs587778970
NM_000249.3(MLH1):c.2040C>T (p.Cys680=) rs63749867
NM_000249.3(MLH1):c.2042C>T (p.Ala681Val) rs63750864
NM_000249.3(MLH1):c.2045T>C (p.Met682Thr) rs1060500693
NM_000249.3(MLH1):c.204C>G (p.Ile68Met) rs780141938
NM_000249.3(MLH1):c.2051A>G (p.Tyr684Cys) rs267607886
NM_000249.3(MLH1):c.2054C>A (p.Ser685Tyr) rs1064796101
NM_000249.3(MLH1):c.2065C>A (p.Gln689Lys) rs41542214
NM_000249.3(MLH1):c.2066A>G (p.Gln689Arg) rs63750702
NM_000249.3(MLH1):c.2070C>T (p.Tyr690=) rs550890395
NM_000249.3(MLH1):c.2101C>A (p.Gln701Lys) rs63750114
NM_000249.3(MLH1):c.2103G>A (p.Gln701=) rs63750603
NM_000249.3(MLH1):c.2104_2105delAG rs63751651
NM_000249.3(MLH1):c.2107G>A (p.Glu703Lys) rs747727493
NM_000249.3(MLH1):c.2111T>G (p.Val704Gly) rs587780682
NM_000249.3(MLH1):c.2135G>T (p.Trp712Leu) rs63750561
NM_000249.3(MLH1):c.2138A>C (p.Lys713Thr) rs878853786
NM_000249.3(MLH1):c.2152C>T (p.His718Tyr) rs2020873
NM_000249.3(MLH1):c.2162A>G (p.Tyr721Cys) rs587778986
NM_000249.3(MLH1):c.2173C>G (p.Arg725Gly) rs138584384
NM_000249.3(MLH1):c.2174G>A (p.Arg725His) rs566928243
NM_000249.3(MLH1):c.218T>G (p.Leu73Arg) rs397514684
NM_000249.3(MLH1):c.2213G>A (p.Gly738Glu) rs148317871
NM_000249.3(MLH1):c.223A>T (p.Ile75Phe) rs1060500701
NM_000249.3(MLH1):c.2250C>A (p.Tyr750Ter) rs267607893
NM_000249.3(MLH1):c.2250C>G (p.Tyr750Ter) rs267607893
NM_000249.3(MLH1):c.2252_2253dup (p.Val752fs) rs267607901
NM_000249.3(MLH1):c.2260G>A (p.Glu754Lys) rs864622445
NM_000249.3(MLH1):c.2262del (p.Arg755fs) rs267607904
NM_000249.3(MLH1):c.2265G>C (p.Arg755Ser) rs267607895
NM_000249.3(MLH1):c.2269T>A (p.Ter757Lys) rs587778995
NM_000249.3(MLH1):c.226G>A (p.Val76Ile) rs878853788
NM_000249.3(MLH1):c.250A>G (p.Lys84Glu) rs63750641
NM_000249.3(MLH1):c.277A>G (p.Ser93Gly) rs41295282
NM_000249.3(MLH1):c.283T>G (p.Ser95Ala) rs63751070
NM_000249.3(MLH1):c.290A>G (p.Tyr97Cys) rs773647920
NM_000249.3(MLH1):c.299G>A (p.Arg100Gln) rs63750266
NM_000249.3(MLH1):c.306+4A>G rs267607733
NM_000249.3(MLH1):c.306+6C>T rs746641892
NM_000249.3(MLH1):c.306G>A (p.Glu102=) rs63751665
NM_000249.3(MLH1):c.306G>T (p.Glu102Asp) rs63751665
NM_000249.3(MLH1):c.347C>A (p.Thr116Lys) rs63750465
NM_000249.3(MLH1):c.376T>A (p.Tyr126Asn) rs200076893
NM_000249.3(MLH1):c.37G>A (p.Glu13Lys) rs587779008
NM_000249.3(MLH1):c.415C>G (p.Pro139Ala) rs779562531
NM_000249.3(MLH1):c.438A>G (p.Gln146=) rs377279035
NM_000249.3(MLH1):c.440G>C (p.Gly147Ala) rs1060500702
NM_000249.3(MLH1):c.453G>A (p.Thr151=) rs369521379
NM_000249.3(MLH1):c.482C>T (p.Thr161Met) rs763992299
NM_000249.3(MLH1):c.52C>T (p.Arg18Cys) rs367654552
NM_000249.3(MLH1):c.539T>G (p.Val180Gly) rs63750102
NM_000249.3(MLH1):c.546-5del rs1553643965
NM_000249.3(MLH1):c.557A>C (p.His186Pro) rs1060500712
NM_000249.3(MLH1):c.588+5G>C rs267607768
NM_000249.3(MLH1):c.589-6T>G rs781244266
NM_000249.3(MLH1):c.595G>C (p.Glu199Gln) rs63749887
NM_000249.3(MLH1):c.5C>T (p.Ser2Leu) rs587779029
NM_000249.3(MLH1):c.601G>C (p.Val201Leu) rs534184145
NM_000249.3(MLH1):c.626A>G (p.Asn209Ser) rs150478207
NM_000249.3(MLH1):c.644A>G (p.Asn215Ser) rs267607775
NM_000249.3(MLH1):c.649C>T (p.Arg217Cys) rs4986984
NM_000249.3(MLH1):c.652T>C (p.Ser218Pro) rs750650349
NM_000249.3(MLH1):c.65G>C (p.Gly22Ala) rs41295280
NM_000249.3(MLH1):c.682C>A (p.Leu228Met) rs751628735
NM_000249.3(MLH1):c.69A>T (p.Glu23Asp) rs63750555
NM_000249.3(MLH1):c.721A>G (p.Lys241Glu) rs587778447
NM_000249.3(MLH1):c.731G>T (p.Gly244Val) rs63750303
NM_000249.3(MLH1):c.736A>T (p.Ile246Leu) rs750253749
NM_000249.3(MLH1):c.743A>G (p.Asn248Ser) rs587782800
NM_000249.3(MLH1):c.776T>C (p.Leu259Ser) rs56250509
NM_000249.3(MLH1):c.779T>A (p.Leu260His) rs63751283
NM_000249.3(MLH1):c.790+4A>T rs267607786
NM_000249.3(MLH1):c.794G>A (p.Arg265His) rs63751448
NM_000249.3(MLH1):c.808A>G (p.Thr270Ala) rs371302926
NM_000249.3(MLH1):c.80G>A (p.Arg27Gln) rs138705565
NM_000249.3(MLH1):c.80G>C (p.Arg27Pro) rs138705565
NM_000249.3(MLH1):c.814T>G (p.Leu272Val) rs63751252
NM_000249.3(MLH1):c.81G>A (p.Arg27=) rs878853791
NM_000249.3(MLH1):c.821A>G (p.Lys274Arg) rs769958855
NM_000249.3(MLH1):c.835G>C (p.Val279Leu) rs1559539382
NM_000249.3(MLH1):c.844G>A (p.Ala282Thr) rs774689817
NM_000249.3(MLH1):c.85G>T (p.Ala29Ser) rs63750656
NM_000249.3(MLH1):c.884+39G>A rs370283452
NM_000249.3(MLH1):c.884G>C (p.Ser295Thr) rs63750144
NM_000249.3(MLH1):c.885-21TC[2] rs267607804
NM_000249.3(MLH1):c.887T>C (p.Leu296Ser) rs63750547
NM_000249.3(MLH1):c.90T>G (p.Asn30Lys) rs863224637
NM_000249.3(MLH1):c.91G>A (p.Ala31Thr) rs749671520
NM_000249.3(MLH1):c.920T>C (p.Val307Ala) rs863224638
NM_000249.3(MLH1):c.92C>G (p.Ala31Gly) rs730882127
NM_000249.3(MLH1):c.940G>T (p.Val314Phe) rs863224639
NM_000249.3(MLH1):c.945C>G (p.His315Gln) rs587779959
NM_000249.3(MLH1):c.94A>G (p.Ile32Val) rs2020872
NM_000249.3(MLH1):c.955G>A (p.Glu319Lys) rs63750796
NM_000249.3(MLH1):c.977T>C (p.Val326Ala) rs63751049
NM_000249.3(MLH1):c.979C>G (p.Gln327Glu) rs587782087
NM_000249.3(MLH1):c.97A>G (p.Lys33Glu) rs878853795
NM_000249.4(MLH1):c.1039-7_1040del
NM_000249.4(MLH1):c.200G>T (p.Gly67Val)
NM_000249.4(MLH1):c.2038T>G rs63750809
NM_000249.4(MLH1):c.884+6G>A
NM_000249.4(MLH1):c.946_954del (p.Phe316_His318del)
NM_001167617.2(MLH1):c.-426_-425delinsTG rs63749994
NM_001167617.2(MLH1):c.1066G>C (p.Gly356Arg) rs63750527
NM_001167617.2(MLH1):c.1206_1208del (p.Ile403del) rs587778920
NM_001167617.2(MLH1):c.794_796CAA[1] (p.Thr266del) rs876660192
NM_001354621.1(MLH1):c.-112_-101del rs1064792918
NM_001354630.1(MLH1):c.1732-878_1732-877delinsGC rs35502531
NM_001354630.1(MLH1):c.1732-895_1732-893del rs63750486
NM_001354630.1(MLH1):c.1732-939G>T rs1416171624

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