ClinVar Miner

List of variants in gene MLH1 reported as pathogenic by Invitae

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Gene type:
ClinVar version:
Total variants: 226
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HGVS dbSNP
NC_000003.11:g.(?_37038100)_(37042554_?)del
NC_000003.11:g.(?_37038100)_(37092154_?)del
NC_000003.11:g.(?_37038104)_(37092150_?)del
NC_000003.11:g.(?_37038110)_(37042544_?)del
NC_000003.11:g.(?_37045882)_(37056045_?)del
NC_000003.11:g.(?_37053301)_(37056045_?)del
NC_000003.11:g.(?_37055917)_(37070429_?)del
NC_000003.11:g.(?_37061791)_(37092154_?)del
NC_000003.11:g.(?_37081667)_(37092154_?)del
NC_000003.11:g.(?_37081671)_(37092150_?)del
NC_000003.11:g.(?_37089000)_(37089184_?)del
NC_000003.11:g.(?_37089000)_(37092154_?)del
NC_000003.11:g.(?_37089004)_(37089180_?)del
NC_000003.11:g.(?_37089998)_(37092154_?)del
NC_000003.11:g.(?_37091971)_(37092150_?)del
NM_000249.3(MLH1):c.(?_-198)_116+?del
NM_000249.3(MLH1):c.(?_-198)_1558+?del
NM_000249.3(MLH1):c.-27C>A rs587779001
NM_000249.3(MLH1):c.1011_1014delinsAATGTGCA (p.Asn338fs) rs1553648195
NM_000249.3(MLH1):c.1011dup (p.Asn338fs) rs63750677
NM_000249.3(MLH1):c.1017del (p.Ser340fs) rs63750339
NM_000249.3(MLH1):c.1039-?_1409+?del
NM_000249.3(MLH1):c.1043del (p.Leu348fs) rs1060500703
NM_000249.3(MLH1):c.1046dup (p.Pro350fs) rs267607822
NM_000249.3(MLH1):c.1047_1049delinsT (p.Pro350fs) rs1559551570
NM_000249.3(MLH1):c.1047dup (p.Pro350fs) rs1060500707
NM_000249.3(MLH1):c.1072_1078del (p.Glu358fs) rs1060500692
NM_000249.3(MLH1):c.1105dup (p.Ser369fs) rs1060500699
NM_000249.3(MLH1):c.112A>C (p.Asn38His) rs63750580
NM_000249.3(MLH1):c.113A>G (p.Asn38Ser) rs587778888
NM_000249.3(MLH1):c.116+5G>C rs267607710
NM_000249.3(MLH1):c.117-2A>G rs267607712
NM_000249.3(MLH1):c.1171C>T (p.Gln391Ter) rs587778894
NM_000249.3(MLH1):c.1190del (p.Leu397fs) rs63750749
NM_000249.3(MLH1):c.119del (p.Cys39_Leu40insTer) rs587778896
NM_000249.3(MLH1):c.1210_1211del (p.Leu404fs) rs63751015
NM_000249.3(MLH1):c.1219C>T (p.Gln407Ter) rs1057517541
NM_000249.3(MLH1):c.1225C>T (p.Gln409Ter) rs63751153
NM_000249.3(MLH1):c.1246A>T (p.Lys416Ter) rs267607823
NM_000249.3(MLH1):c.1252_1253del (p.Asp418fs) rs63751118
NM_000249.3(MLH1):c.1261delinsTAT (p.Ser421fs) rs1553651130
NM_000249.3(MLH1):c.1276C>T (p.Gln426Ter) rs63750316
NM_000249.3(MLH1):c.1279C>T (p.Gln427Ter) rs1559553501
NM_000249.3(MLH1):c.1297G>T (p.Glu433Ter) rs63750443
NM_000249.3(MLH1):c.129dup (p.Ser44fs) rs63750867
NM_000249.3(MLH1):c.1315G>T (p.Glu439Ter) rs1302248679
NM_000249.3(MLH1):c.1333C>T (p.Gln445Ter)
NM_000249.3(MLH1):c.1381A>T (p.Lys461Ter) rs63750540
NM_000249.3(MLH1):c.1409+1G>A rs267607825
NM_000249.3(MLH1):c.1410-?_1558+?del
NM_000249.3(MLH1):c.1411_1414delAAGA rs63751592
NM_000249.3(MLH1):c.1413_1414GA[1] (p.Arg472fs) rs281864936
NM_000249.3(MLH1):c.1441del (p.Met481fs) rs878853777
NM_000249.3(MLH1):c.1447del (p.Glu483fs) rs1553652930
NM_000249.3(MLH1):c.1456dup (p.Ser486fs) rs878853778
NM_000249.3(MLH1):c.1459C>T (p.Arg487Ter) rs63749795
NM_000249.3(MLH1):c.1489_1490insCG (p.Arg497fs) rs1553653037
NM_000249.3(MLH1):c.1489del (p.Arg497fs) rs63750855
NM_000249.3(MLH1):c.1489dup (p.Arg497fs) rs63750855
NM_000249.3(MLH1):c.1522_1523del (p.Leu509fs) rs876658821
NM_000249.3(MLH1):c.1526del (p.Leu509fs) rs1553653158
NM_000249.3(MLH1):c.1528C>T (p.Gln510Ter) rs63749923
NM_000249.3(MLH1):c.1546C>T (p.Gln516Ter) rs1553653195
NM_000249.3(MLH1):c.1554dup (p.Glu519Ter) rs63751689
NM_000249.3(MLH1):c.1558+1G>A rs267607832
NM_000249.3(MLH1):c.1559-1G>C rs267607837
NM_000249.3(MLH1):c.1559-2A>C rs267607836
NM_000249.3(MLH1):c.1559-2A>G rs267607836
NM_000249.3(MLH1):c.1559-?_1667+?del
NM_000249.3(MLH1):c.156del (p.Glu53fs) rs63750028
NM_000249.3(MLH1):c.156dup (p.Glu53fs) rs63750028
NM_000249.3(MLH1):c.1597del (p.Cys533fs) rs1559575107
NM_000249.3(MLH1):c.1613G>A (p.Trp538Ter) rs587778933
NM_000249.3(MLH1):c.1624C>T (p.Gln542Ter) rs63750192
NM_000249.3(MLH1):c.1667+1G>A rs1434898623
NM_000249.3(MLH1):c.1667+2_1667+8delinsATTT rs587778938
NM_000249.3(MLH1):c.1668-1G>A rs267607845
NM_000249.3(MLH1):c.1669G>T (p.Glu557Ter) rs63751244
NM_000249.3(MLH1):c.1683C>G (p.Tyr561Ter) rs63751393
NM_000249.3(MLH1):c.1690_1693del (p.Leu564fs) rs267607849
NM_000249.3(MLH1):c.1721T>C (p.Leu574Pro) rs63751608
NM_000249.3(MLH1):c.1731G>A (p.Ser577=) rs63751657
NM_000249.3(MLH1):c.1732-2A>C rs267607852
NM_000249.3(MLH1):c.1732-?_(*193_?)del
NM_000249.3(MLH1):c.1745_1758del (p.Leu582fs)
NM_000249.3(MLH1):c.1772_1775del (p.Asp591fs) rs63749868
NM_000249.3(MLH1):c.1779_1780AG[2] (p.Ser595fs) rs63750035
NM_000249.3(MLH1):c.1785_1786insCCAGATAGTCCAGA (p.Gly596fs) rs1553662800
NM_000249.3(MLH1):c.1790G>A (p.Trp597Ter) rs63750604
NM_000249.3(MLH1):c.1790_1791delinsATCTGGACC (p.Trp597fs) rs863225378
NM_000249.3(MLH1):c.1791G>A (p.Trp597Ter) rs1416171624
NM_000249.3(MLH1):c.1818delinsCTT (p.Leu607fs)
NM_000249.3(MLH1):c.1824_1825dup (p.Glu609fs)
NM_000249.3(MLH1):c.1846_1848AAG[2] (p.Lys618del) rs63751247
NM_000249.3(MLH1):c.184C>T (p.Gln62Ter) rs63751428
NM_000249.3(MLH1):c.1853dup (p.Ala619fs) rs1060500687
NM_000249.3(MLH1):c.1855del (p.Ala619fs) rs63749986
NM_000249.3(MLH1):c.1877del (p.Phe626fs) rs63750152
NM_000249.3(MLH1):c.1896+1G>A rs267607867
NM_000249.3(MLH1):c.1896+1G>T rs267607867
NM_000249.3(MLH1):c.1896G>A (p.Glu632=) rs63751632
NM_000249.3(MLH1):c.1912G>T (p.Gly638Ter) rs63750549
NM_000249.3(MLH1):c.1938_1945dup (p.Pro649fs) rs1064794331
NM_000249.3(MLH1):c.1946del (p.Pro649fs) rs281864938
NM_000249.3(MLH1):c.1956_1957del (p.Leu653fs) rs1553663981
NM_000249.3(MLH1):c.195delinsATCTT (p.Thr66fs) rs1553638868
NM_000249.3(MLH1):c.1975C>T (p.Arg659Ter) rs63751310
NM_000249.3(MLH1):c.1989G>T (p.Glu663Asp) rs63751662
NM_000249.3(MLH1):c.1990-2A>G rs267607883
NM_000249.3(MLH1):c.1997G>A (p.Trp666Ter) rs886039424
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.1A>G (p.Met1Val) rs587778967
NM_000249.3(MLH1):c.2009dup (p.Glu671fs)
NM_000249.3(MLH1):c.200G>A (p.Gly67Glu) rs63749939
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.2044_2045del (p.Met682fs) rs878853785
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+2T>G rs267607722
NM_000249.3(MLH1):c.2070C>A (p.Tyr690Ter) rs550890395
NM_000249.3(MLH1):c.2070C>G (p.Tyr690Ter)
NM_000249.3(MLH1):c.2070_2071insTT (p.Ile691fs) rs876659681
NM_000249.3(MLH1):c.208-1G>A rs267607717
NM_000249.3(MLH1):c.208-?_306+?del
NM_000249.3(MLH1):c.208-?_545+?del
NM_000249.3(MLH1):c.2093C>G (p.Ser698Ter) rs587778975
NM_000249.3(MLH1):c.209_215delAAGAAGA rs730881734
NM_000249.3(MLH1):c.210_212AGA[1] (p.Glu71del) rs63751642
NM_000249.3(MLH1):c.210_213delAGAA rs267607723
NM_000249.3(MLH1):c.2135G>A (p.Trp712Ter) rs63750561
NM_000249.3(MLH1):c.2136del (p.Ser711_Trp712insTer) rs1060500706
NM_000249.3(MLH1):c.2142G>A (p.Trp714Ter) rs63750978
NM_000249.3(MLH1):c.2161_2191dup (p.Pro731delinsLeuTer) rs1553665683
NM_000249.3(MLH1):c.2177_2178CA[1] (p.His727fs) rs267607898
NM_000249.3(MLH1):c.2190del (p.Pro731fs) rs587780683
NM_000249.3(MLH1):c.2194A>T (p.Lys732Ter) rs267607906
NM_000249.3(MLH1):c.2195_2198dup (p.His733fs) rs267607903
NM_000249.3(MLH1):c.2206G>T (p.Glu736Ter) rs876659608
NM_000249.3(MLH1):c.2212G>T (p.Gly738Ter) rs1553665866
NM_000249.3(MLH1):c.2215_2218dup (p.Ile740fs)
NM_000249.3(MLH1):c.2218dup (p.Ile740fs) rs587778989
NM_000249.3(MLH1):c.2249dup (p.Tyr750Ter) rs878853787
NM_000249.3(MLH1):c.2252_2253del (p.Lys751fs) rs267607901
NM_000249.3(MLH1):c.2252_2253dup (p.Val752fs) rs267607901
NM_000249.3(MLH1):c.2253del (p.Val752fs) rs267607901
NM_000249.3(MLH1):c.2259del (p.Phe753fs) rs1060500698
NM_000249.3(MLH1):c.2261_2262AG[1] (p.Arg755fs) rs1559597322
NM_000249.3(MLH1):c.2266_2269dup (p.Ter757LeuextTer?) rs267607892
NM_000249.3(MLH1):c.230G>A (p.Cys77Tyr) rs63750437
NM_000249.3(MLH1):c.232del (p.Glu78fs) rs587778997
NM_000249.3(MLH1):c.244A>G (p.Thr82Ala) rs587778998
NM_000249.3(MLH1):c.25_26delinsTA (p.Arg9Ter) rs869312767
NM_000249.3(MLH1):c.268del (p.Asp90fs) rs1060500688
NM_000249.3(MLH1):c.272T>G (p.Leu91Ter) rs63751137
NM_000249.3(MLH1):c.283del (p.Ser95fs) rs1064795441
NM_000249.3(MLH1):c.298C>T (p.Arg100Ter) rs63751221
NM_000249.3(MLH1):c.306+1G>A rs267607734
NM_000249.3(MLH1):c.307-?_380+?del
NM_000249.3(MLH1):c.320T>A (p.Ile107Lys)
NM_000249.3(MLH1):c.350C>G (p.Thr117Arg) rs63750781
NM_000249.3(MLH1):c.350C>T (p.Thr117Met) rs63750781
NM_000249.3(MLH1):c.37G>T (p.Glu13Ter) rs587779008
NM_000249.3(MLH1):c.382del (p.Ala128fs) rs63750865
NM_000249.3(MLH1):c.38dup (p.Thr14fs) rs63750057
NM_000249.3(MLH1):c.390C>G (p.Tyr130Ter) rs1060500689
NM_000249.3(MLH1):c.404_407del (p.Leu135fs) rs587779014
NM_000249.3(MLH1):c.404dup (p.Lys136fs) rs1553642079
NM_000249.3(MLH1):c.436C>T (p.Gln146Ter) rs63749820
NM_000249.3(MLH1):c.453+1G>C rs267607750
NM_000249.3(MLH1):c.454-?_1409+?dup
NM_000249.3(MLH1):c.454-?_545+?del
NM_000249.3(MLH1):c.474del (p.Asn158fs) rs1559524070
NM_000249.3(MLH1):c.503dup (p.Asn168fs) rs63749959
NM_000249.3(MLH1):c.532G>T (p.Glu178Ter) rs1248251121
NM_000249.3(MLH1):c.544A>G (p.Arg182Gly) rs63750211
NM_000249.3(MLH1):c.545+1G>A rs267607765
NM_000249.3(MLH1):c.546-2A>G rs267607759
NM_000249.3(MLH1):c.551C>G (p.Ser184Ter) rs1064796057
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.626del (p.Asn209fs) rs1559530646
NM_000249.3(MLH1):c.632del (p.Ala210_Ser211insTer)
NM_000249.3(MLH1):c.63_82del (p.Gly22fs)
NM_000249.3(MLH1):c.665del (p.Asn222fs) rs63750385
NM_000249.3(MLH1):c.676C>T (p.Arg226Ter) rs63751615
NM_000249.3(MLH1):c.677+1G>A 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.67G>T (p.Glu23Ter) rs63750823
NM_000249.3(MLH1):c.67del (p.Glu23fs) rs63750822
NM_000249.3(MLH1):c.67dup (p.Glu23fs) rs63750822
NM_000249.3(MLH1):c.699T>A (p.Cys233Ter) rs764085979
NM_000249.3(MLH1):c.706_725del (p.Lys236fs) rs863224480
NM_000249.3(MLH1):c.723_726AATG[1] (p.Asn243fs) rs267607787
NM_000249.3(MLH1):c.735C>A (p.Tyr245Ter) rs1553645226
NM_000249.3(MLH1):c.768C>A (p.Cys256Ter)
NM_000249.3(MLH1):c.77del (p.Gln26fs)
NM_000249.3(MLH1):c.790+1G>A rs267607789
NM_000249.3(MLH1):c.790+2T>C rs267607790
NM_000249.3(MLH1):c.790+2dupT rs267607791
NM_000249.3(MLH1):c.793C>T (p.Arg265Cys) rs63751194
NM_000249.3(MLH1):c.793del (p.Arg265fs) rs863225384
NM_000249.3(MLH1):c.796del (p.Leu266fs) rs1553646602
NM_000249.3(MLH1):c.806C>G (p.Ser269Ter) rs63750691
NM_000249.3(MLH1):c.815T>A (p.Leu272Ter)
NM_000249.3(MLH1):c.826dup (p.Ile276fs) rs878853792
NM_000249.3(MLH1):c.833_834dup (p.Val279fs) rs1553646681
NM_000249.3(MLH1):c.845_858del (p.Ala282fs) rs1559539489
NM_000249.3(MLH1):c.859_860del (p.Asn287fs) rs63750034
NM_000249.3(MLH1):c.884+4A>G rs267607777
NM_000249.3(MLH1):c.885-2A>G rs267607805
NM_000249.3(MLH1):c.887T>G (p.Leu296Ter) rs63750547
NM_000249.3(MLH1):c.939dup (p.Val314fs) rs63751259
NM_000249.3(MLH1):c.940del (p.Val314fs) rs1553648023
NM_000249.3(MLH1):c.955G>T (p.Glu319Ter) rs63750796
NM_000249.3(MLH1):c.957_959delinsT (p.Glu319fs) rs1559544064
NM_000249.3(MLH1):c.959_960AG[3] (p.Ser321fs) rs878853794
NM_000249.3(MLH1):c.971dup (p.Arg325fs) rs587781554
NM_000249.3(MLH1):c.979C>T (p.Gln327Ter) rs587782087
NM_000249.3(MLH1):c.997_1000del (p.Lys333fs) rs1553648149
NM_000249.3(MLH1):c.9_21del (p.Phe3fs) rs1064795341

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