ClinVar Miner

List of variants in gene MLH1 reported as pathogenic for not provided

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Gene type:
ClinVar version:
Total variants: 254
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HGVS dbSNP gnomAD frequency
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.298C>T (p.Arg100Ter) rs63751221 0.00001
NM_000249.4(MLH1):c.306G>A (p.Glu102=) rs63751665 0.00001
NM_000249.3(MLH1):c.1732-?_(*193_?)del
NM_000249.3(MLH1):c.1732-?_1896+?del
NM_000249.3(MLH1):c.209_215del rs730881734
NM_000249.3(MLH1):c.307-?_380+?del
NM_000249.3(MLH1):c.589-?_677+?del
NM_000249.4(MLH1):c.-27C>A rs587779001
NM_000249.4(MLH1):c.-2_116+1del rs2125693258
NM_000249.4(MLH1):c.1004del (p.Leu335fs) rs1064793469
NM_000249.4(MLH1):c.100G>T (p.Glu34Ter)
NM_000249.4(MLH1):c.1011dup (p.Asn338fs) rs63750677
NM_000249.4(MLH1):c.1029del (p.Phe344fs) rs876661059
NM_000249.4(MLH1):c.1038G>A (p.Gln346=) rs63751715
NM_000249.4(MLH1):c.1039-1G>A rs267607819
NM_000249.4(MLH1):c.1047dup (p.Pro350fs) rs1060500707
NM_000249.4(MLH1):c.104T>G (p.Met35Arg) rs63749906
NM_000249.4(MLH1):c.1050del (p.Gly351fs) rs587778883
NM_000249.4(MLH1):c.1079_1087delinsC (p.Val360fs) rs1064793173
NM_000249.4(MLH1):c.1103C>A (p.Ser368Ter)
NM_000249.4(MLH1):c.1105dup (p.Ser369fs) rs1060500699
NM_000249.4(MLH1):c.1144C>T (p.Gln382Ter)
NM_000249.4(MLH1):c.116+1G>A rs267607709
NM_000249.4(MLH1):c.116+5G>C rs267607710
NM_000249.4(MLH1):c.1168G>T (p.Glu390Ter) rs886039423
NM_000249.4(MLH1):c.116G>A (p.Cys39Tyr) rs63751701
NM_000249.4(MLH1):c.117-1G>A rs587779950
NM_000249.4(MLH1):c.117-2A>G rs267607712
NM_000249.4(MLH1):c.1182del (p.Asp394fs) rs1064794353
NM_000249.4(MLH1):c.1210_1211del (p.Leu404fs) rs63751015
NM_000249.4(MLH1):c.1212del (p.Ser405fs) rs1575535938
NM_000249.4(MLH1):c.1219C>T (p.Gln407Ter) rs1057517541
NM_000249.4(MLH1):c.121G>C (p.Asp41His) rs267607713
NM_000249.4(MLH1):c.1225C>T (p.Gln409Ter) rs63751153
NM_000249.4(MLH1):c.1246A>T (p.Lys416Ter) rs267607823
NM_000249.4(MLH1):c.1252_1253del (p.Asp418fs) rs63751118
NM_000249.4(MLH1):c.1275dup (p.Gln426fs) rs2125884574
NM_000249.4(MLH1):c.1279C>T (p.Gln427Ter) rs1559553501
NM_000249.4(MLH1):c.1297G>T (p.Glu433Ter) rs63750443
NM_000249.4(MLH1):c.131C>T (p.Ser44Phe) rs63751109
NM_000249.4(MLH1):c.1349del (p.Asp450fs) rs2083448445
NM_000249.4(MLH1):c.1376C>A (p.Ser459Ter) rs2083454135
NM_000249.4(MLH1):c.1381A>T (p.Lys461Ter) rs63750540
NM_000249.4(MLH1):c.1382_1386del (p.Lys461fs) rs1064794612
NM_000249.4(MLH1):c.1398del (p.Ser467fs) rs63750713
NM_000249.4(MLH1):c.1400del (p.Ser467fs) rs1064795515
NM_000249.4(MLH1):c.1407dup (p.Arg470fs) rs869244899
NM_000249.4(MLH1):c.1409+1G>A rs267607825
NM_000249.4(MLH1):c.1409+1G>T rs267607825
NM_000249.4(MLH1):c.1410-2A>G rs746536721
NM_000249.4(MLH1):c.1410-2_1410-1delinsCC rs1559558071
NM_000249.4(MLH1):c.1411_1414del (p.Lys471Aspfs) rs63751592
NM_000249.4(MLH1):c.1416dup (p.His473fs) rs1553652883
NM_000249.4(MLH1):c.142C>T (p.Gln48Ter) rs587778913
NM_000249.4(MLH1):c.1459C>T (p.Arg487Ter) rs63749795
NM_000249.4(MLH1):c.1489dup (p.Arg497fs) rs63750855
NM_000249.4(MLH1):c.1491dup (p.Arg498fs) rs63751435
NM_000249.4(MLH1):c.150_153del (p.Val51fs) rs1064794348
NM_000249.4(MLH1):c.1516_1517del (p.Val506fs) rs1553653115
NM_000249.4(MLH1):c.1522_1523del (p.Leu509fs) rs876658821
NM_000249.4(MLH1):c.152T>A (p.Val51Asp) rs1553638767
NM_000249.4(MLH1):c.1534G>T (p.Glu512Ter) rs63751472
NM_000249.4(MLH1):c.1539_1542del (p.Ile513fs) rs2083719845
NM_000249.4(MLH1):c.1546C>T (p.Gln516Ter) rs1553653195
NM_000249.4(MLH1):c.1554dup (p.Glu519Ter) rs63751689
NM_000249.4(MLH1):c.1558+1G>A rs267607832
NM_000249.4(MLH1):c.1559-1G>T rs267607837
NM_000249.4(MLH1):c.1559-2A>G rs267607836
NM_000249.4(MLH1):c.155_156del (p.Lys52fs) rs63750028
NM_000249.4(MLH1):c.1601del (p.Val534fs) rs1559575143
NM_000249.4(MLH1):c.1609C>T (p.Gln537Ter) rs63751277
NM_000249.4(MLH1):c.1624C>T (p.Gln542Ter) rs63750192
NM_000249.4(MLH1):c.1637_1641dup (p.Tyr548fs) rs1064794267
NM_000249.4(MLH1):c.1640T>G (p.Leu547Ter) rs63750300
NM_000249.4(MLH1):c.1667+2T>C rs878853780
NM_000249.4(MLH1):c.1667+2_1667+8delinsATTT rs587778938
NM_000249.4(MLH1):c.1668-1G>C
NM_000249.4(MLH1):c.1688_1689del (p.Ile563fs) rs863225376
NM_000249.4(MLH1):c.1690del (p.Leu564fs)
NM_000249.4(MLH1):c.1698T>A (p.Tyr566Ter) rs876658915
NM_000249.4(MLH1):c.1713del (p.Phe571fs) rs2125957913
NM_000249.4(MLH1):c.1731+1G>A rs267607853
NM_000249.4(MLH1):c.1731G>A (p.Ser577=) rs63751657
NM_000249.4(MLH1):c.1732-2_1896+1del rs2125984067
NM_000249.4(MLH1):c.1736_1737insGT (p.Pro579_Ala580insTer) rs1064793823
NM_000249.4(MLH1):c.1740_1753del (p.Pro581fs) rs1553662622
NM_000249.4(MLH1):c.1748_1749del (p.Leu582_Phe583insTer) rs63750309
NM_000249.4(MLH1):c.1757C>A (p.Ala586Asp) rs63750587
NM_000249.4(MLH1):c.1772_1775del (p.Asp591fs) rs63749868
NM_000249.4(MLH1):c.1778_1779del (p.Pro593fs) rs63750375
NM_000249.4(MLH1):c.1783_1784del (p.Ser595fs) rs63750035
NM_000249.4(MLH1):c.1790G>A (p.Trp597Ter) rs63750604
NM_000249.4(MLH1):c.1790_1791delinsATCTGGACC (p.Trp597fs) rs863225378
NM_000249.4(MLH1):c.1791G>A (p.Trp597Ter) rs1416171624
NM_000249.4(MLH1):c.1810A>T (p.Lys604Ter) rs63750386
NM_000249.4(MLH1):c.1812dup (p.Glu605fs) rs63751240
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.1855del (p.Ala619fs) rs63749986
NM_000249.4(MLH1):c.1858del (p.Glu620fs) rs786203456
NM_000249.4(MLH1):c.1865T>A (p.Leu622His) rs63750693
NM_000249.4(MLH1):c.1884_1888del (p.Leu628fs) rs63751639
NM_000249.4(MLH1):c.1896G>A (p.Glu632=) rs63751632
NM_000249.4(MLH1):c.1897G>T (p.Glu633Ter) rs1057520627
NM_000249.4(MLH1):c.1902del (p.Asn635fs) rs587778956
NM_000249.4(MLH1):c.1918C>T (p.Pro640Ser) rs63749792
NM_000249.4(MLH1):c.1942C>T (p.Pro648Ser) rs63750899
NM_000249.4(MLH1):c.1943C>T (p.Pro648Leu) rs63750610
NM_000249.4(MLH1):c.1961C>T (p.Pro654Leu) rs63750726
NM_000249.4(MLH1):c.1975C>T (p.Arg659Ter) rs63751310
NM_000249.4(MLH1):c.1976G>C (p.Arg659Pro) rs63749900
NM_000249.4(MLH1):c.1989+1G>T rs267607879
NM_000249.4(MLH1):c.1989G>T (p.Glu663Asp) rs63751662
NM_000249.4(MLH1):c.1990-1G>A rs267607884
NM_000249.4(MLH1):c.1990-1G>C rs267607884
NM_000249.4(MLH1):c.1990-3C>G rs267607882
NM_000249.4(MLH1):c.1997G>A (p.Trp666Ter) rs886039424
NM_000249.4(MLH1):c.1998G>A (p.Trp666Ter) rs63750639
NM_000249.4(MLH1):c.199G>A (p.Gly67Arg) rs63750206
NM_000249.4(MLH1):c.1A>G (p.Met1Val) rs587778967
NM_000249.4(MLH1):c.2009_2013del (p.Lys670fs) rs1553664353
NM_000249.4(MLH1):c.200G>A (p.Gly67Glu) rs63749939
NM_000249.4(MLH1):c.201dup (p.Ile68fs) rs587778968
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.2044_2045del (p.Met682fs) rs878853785
NM_000249.4(MLH1):c.2065C>T (p.Gln689Ter) rs41542214
NM_000249.4(MLH1):c.2070C>A (p.Tyr690Ter) rs550890395
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.2089del (p.Leu697fs) rs1064793177
NM_000249.4(MLH1):c.2092_2093del (p.Ser698fs) rs63750859
NM_000249.4(MLH1):c.2098C>T (p.Gln700Ter) rs1553664702
NM_000249.4(MLH1):c.2103+1G>A rs267607888
NM_000249.4(MLH1):c.2103G>C (p.Gln701His) rs63750603
NM_000249.4(MLH1):c.210AGA[1] (p.Glu71del) rs63751642
NM_000249.4(MLH1):c.210_213del rs267607723
NM_000249.4(MLH1):c.2110dup (p.Val704fs) rs1553665514
NM_000249.4(MLH1):c.2135G>A (p.Trp712Ter) rs63750561
NM_000249.4(MLH1):c.2136G>A (p.Trp712Ter) rs63750499
NM_000249.4(MLH1):c.2141G>A (p.Trp714Ter) rs63751022
NM_000249.4(MLH1):c.2142G>A (p.Trp714Ter) rs63750978
NM_000249.4(MLH1):c.2155del (p.Ile719fs) rs2148523379
NM_000249.4(MLH1):c.2179_2182del (p.His727fs) rs267607898
NM_000249.4(MLH1):c.2195_2198dup (p.His733fs) rs267607903
NM_000249.4(MLH1):c.2206G>T (p.Glu736Ter) rs876659608
NM_000249.4(MLH1):c.2218dup (p.Ile740fs) rs587778989
NM_000249.4(MLH1):c.2246T>C (p.Leu749Pro) rs267607894
NM_000249.4(MLH1):c.2252_2253del (p.Lys751fs) rs267607901
NM_000249.4(MLH1):c.2266_2269dup (p.Ter757LeuextTer?) rs267607892
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.232_243delinsATGTAAGG (p.Glu78_Thr81delinsMetTer) rs1575414321
NM_000249.4(MLH1):c.238T>G (p.Phe80Val) rs63749990
NM_000249.4(MLH1):c.245C>T (p.Thr82Ile) rs63750005
NM_000249.4(MLH1):c.256C>T (p.Gln86Ter) rs63751421
NM_000249.4(MLH1):c.264dup (p.Glu89Ter)
NM_000249.4(MLH1):c.272T>G (p.Leu91Ter) rs63751137
NM_000249.4(MLH1):c.283del (p.Ser95fs) rs1064795441
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.306+1G>A rs267607734
NM_000249.4(MLH1):c.306+5G>A rs267607735
NM_000249.4(MLH1):c.306G>T (p.Glu102Asp) rs63751665
NM_000249.4(MLH1):c.307-1G>C rs267607736
NM_000249.4(MLH1):c.320T>G (p.Ile107Arg) rs63750507
NM_000249.4(MLH1):c.347del (p.Thr116fs) rs876661159
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.367A>T (p.Lys123Ter) rs63750542
NM_000249.4(MLH1):c.372_373del (p.Ala125fs) rs587779006
NM_000249.4(MLH1):c.380+1G>A rs267607745
NM_000249.4(MLH1):c.380+2T>C rs267607742
NM_000249.4(MLH1):c.381-1G>A rs267607744
NM_000249.4(MLH1):c.38_39insCCCA (p.Glu13fs) rs63750057
NM_000249.4(MLH1):c.392C>G (p.Ser131Ter) rs63749818
NM_000249.4(MLH1):c.393_396del (p.Asp132fs) rs1559521039
NM_000249.4(MLH1):c.3G>A (p.Met1Ile) rs72481822
NM_000249.4(MLH1):c.453+1G>A rs267607750
NM_000249.4(MLH1):c.454-13A>G rs267607749
NM_000249.4(MLH1):c.454-1G>A rs193922370
NM_000249.4(MLH1):c.47_53del (p.Val16fs) rs876658923
NM_000249.4(MLH1):c.493del (p.Ala165fs) rs1553642707
NM_000249.4(MLH1):c.503del (p.Asn168fs) rs63749959
NM_000249.4(MLH1):c.503dup (p.Asn168fs) rs63749959
NM_000249.4(MLH1):c.52del (p.Arg18fs) rs63749804
NM_000249.4(MLH1):c.531_532delinsAT (p.Glu178Ter) rs63750903
NM_000249.4(MLH1):c.545+1G>T rs267607765
NM_000249.4(MLH1):c.545+2T>C rs1575449402
NM_000249.4(MLH1):c.545+3A>G rs267607760
NM_000249.4(MLH1):c.546-1G>A rs587779022
NM_000249.4(MLH1):c.546-2A>G rs267607759
NM_000249.4(MLH1):c.554T>G (p.Val185Gly) rs63750515
NM_000249.4(MLH1):c.567del (p.Ile190fs) rs1553644024
NM_000249.4(MLH1):c.578C>G (p.Ser193Ter) rs63751480
NM_000249.4(MLH1):c.583A>T (p.Lys195Ter) rs863225383
NM_000249.4(MLH1):c.588+5G>A rs267607768
NM_000249.4(MLH1):c.589-2A>G rs267607767
NM_000249.4(MLH1):c.589C>T (p.Gln197Ter) rs1553644123
NM_000249.4(MLH1):c.5C>A (p.Ser2Ter) rs587779029
NM_000249.4(MLH1):c.62C>T (p.Ala21Val) rs63750706
NM_000249.4(MLH1):c.640del (p.Asp214fs) rs1553644194
NM_000249.4(MLH1):c.646_647del (p.Ile216fs)
NM_000249.4(MLH1):c.673_676del (p.Ser225fs) rs267607774
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.677+5G>A rs587779034
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.678-1G>A rs267607784
NM_000249.4(MLH1):c.67G>T (p.Glu23Ter) rs63750823
NM_000249.4(MLH1):c.67del (p.Glu23fs) rs63750822
NM_000249.4(MLH1):c.67dup (p.Glu23fs) rs63750822
NM_000249.4(MLH1):c.717del (p.Phe240fs) rs1064794373
NM_000249.4(MLH1):c.71_75del (p.Val24fs) rs1553637293
NM_000249.4(MLH1):c.731G>A (p.Gly244Asp) rs63750303
NM_000249.4(MLH1):c.735C>G (p.Tyr245Ter) rs1553645226
NM_000249.4(MLH1):c.753C>G (p.Tyr251Ter) rs63750310
NM_000249.4(MLH1):c.755del (p.Tyr251_Ser252insTer) rs1064793172
NM_000249.4(MLH1):c.76C>T (p.Gln26Ter) rs63749827
NM_000249.4(MLH1):c.790+1G>A rs267607789
NM_000249.4(MLH1):c.790+2dup rs267607791
NM_000249.4(MLH1):c.791-1G>C rs267607795
NM_000249.4(MLH1):c.791-2A>G rs267607794
NM_000249.4(MLH1):c.791-2A>T rs267607794
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.793del (p.Arg265fs) rs863225384
NM_000249.4(MLH1):c.806C>G (p.Ser269Ter) rs63750691
NM_000249.4(MLH1):c.832del (p.Thr278fs) rs1064794122
NM_000249.4(MLH1):c.83C>T (p.Pro28Leu) rs63750792
NM_000249.4(MLH1):c.843dup (p.Ala282fs) rs2082749588
NM_000249.4(MLH1):c.860dup (p.Asn287fs) rs63750034
NM_000249.4(MLH1):c.884+1G>A rs1553646764
NM_000249.4(MLH1):c.884+4A>G rs267607777
NM_000249.4(MLH1):c.884+679_1410-1251del
NM_000249.4(MLH1):c.885-2A>G rs267607805
NM_000249.4(MLH1):c.887T>G (p.Leu296Ter) rs63750547
NM_000249.4(MLH1):c.901C>T (p.Gln301Ter) rs63750489
NM_000249.4(MLH1):c.908_909del (p.Val303fs) rs1553647947
NM_000249.4(MLH1):c.940del (p.Val314fs) rs1553648023
NM_000249.4(MLH1):c.949del (p.Leu317fs) rs1553648029
NM_000249.4(MLH1):c.94del (p.Ile32fs) rs1064793607
NM_000249.4(MLH1):c.955G>T (p.Glu319Ter) rs63750796
NM_000249.4(MLH1):c.971dup (p.Arg325fs) rs587781554
NM_000249.4(MLH1):c.995_996insA (p.Ser332fs) rs2125854201
NM_000249.4(MLH1):c.997_1000del (p.Lys333fs) rs1553648149
NM_000249.4(MLH1):c.9_21del (p.Phe3fs) rs1064795341
NM_000249.4:c.1559_1667del
NM_000249.4:c.208_306del

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