ClinVar Miner

List of variants in gene MLH1 reported as pathogenic by Department of Pathology and Laboratory Medicine, Sinai Health System

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Gene type:
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Total variants: 89
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HGVS dbSNP gnomAD frequency
NM_000249.4(MLH1):c.207+1G>A rs267607718 0.00001
NM_000249.4(MLH1):c.244A>G (p.Thr82Ala) rs587778998 0.00001
NM_000249.4(MLH1):c.298C>T (p.Arg100Ter) rs63751221 0.00001
NM_000249.4(MLH1):c.963_1014dup (p.Ser339fs) rs1553648058 0.00001
NM_000249.3(MLH1):c.1039-?_1558+?del
NM_000249.3(MLH1):c.1732-?_1896+?del
NM_000249.3(MLH1):c.307-?_1667+?dup
NM_000249.3(MLH1):c.381-?_677+?del
NM_000249.4(MLH1):c.-2_116+1del rs2125693258
NM_000249.4(MLH1):c.1011del (p.Asn338fs) rs63750677
NM_000249.4(MLH1):c.1039-2_1409+150del rs2125879653
NM_000249.4(MLH1):c.1039-2_1409+1del rs2125879720
NM_000249.4(MLH1):c.104T>G (p.Met35Arg) rs63749906
NM_000249.4(MLH1):c.1219C>T (p.Gln407Ter) rs1057517541
NM_000249.4(MLH1):c.1238_1239del (p.Thr413fs) rs1553651073
NM_000249.4(MLH1):c.1275dup (p.Gln426fs) rs2125884574
NM_000249.4(MLH1):c.131_132delinsTT (p.Ser44Phe) rs2125710774
NM_000249.4(MLH1):c.1325_1346delinsATTTT (p.Ala442fs) rs587778903
NM_000249.4(MLH1):c.1358dup (p.Thr455fs) rs1553651429
NM_000249.4(MLH1):c.1367del (p.Thr455_Ser456insTer) rs2125886267
NM_000249.4(MLH1):c.1459C>T (p.Arg487Ter) rs63749795
NM_000249.4(MLH1):c.1489dup (p.Arg497fs) rs63750855
NM_000249.4(MLH1):c.1559-1G>A rs267607837
NM_000249.4(MLH1):c.1559-1G>T rs267607837
NM_000249.4(MLH1):c.1559-2A>G rs267607836
NM_000249.4(MLH1):c.1559-2_1667+1del rs2125943381
NM_000249.4(MLH1):c.1559-4_1667+63del rs2125943327
NM_000249.4(MLH1):c.1609C>T (p.Gln537Ter) rs63751277
NM_000249.4(MLH1):c.1667+2T>C rs878853780
NM_000249.4(MLH1):c.1732-1G>A rs267607854
NM_000249.4(MLH1):c.1732-2_1896+1del rs2125984067
NM_000249.4(MLH1):c.1770_1772delinsC (p.Leu590fs) rs2125984594
NM_000249.4(MLH1):c.1790G>A (p.Trp597Ter) rs63750604
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.1896+1G>C rs267607867
NM_000249.4(MLH1):c.1918C>T (p.Pro640Ser) rs63749792
NM_000249.4(MLH1):c.1923del (p.Leu641_Leu642insTer) rs1553663834
NM_000249.4(MLH1):c.199G>A (p.Gly67Arg) rs63750206
NM_000249.4(MLH1):c.2009_2013del (p.Lys670fs) rs1553664353
NM_000249.4(MLH1):c.2035G>T (p.Glu679Ter) rs587778971
NM_000249.4(MLH1):c.2038T>C (p.Cys680Arg) rs63750809
NM_000249.4(MLH1):c.2040C>A (p.Cys680Ter) rs63749867
NM_000249.4(MLH1):c.2131dup (p.Ser711fs) rs2148522538
NM_000249.4(MLH1):c.2190del (p.Pro731fs) rs587780683
NM_000249.4(MLH1):c.2250C>G (p.Tyr750Ter) rs267607893
NM_000249.4(MLH1):c.2252_2253del (p.Lys751fs) rs267607901
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.306+2T>G rs1553640340
NM_000249.4(MLH1):c.306G>T (p.Glu102Asp) rs63751665
NM_000249.4(MLH1):c.322_335del (p.Ser108fs) rs1553641269
NM_000249.4(MLH1):c.346del (p.Thr116fs) rs63750906
NM_000249.4(MLH1):c.350C>T (p.Thr117Met) rs63750781
NM_000249.4(MLH1):c.365del (p.Gly122fs) rs2125757477
NM_000249.4(MLH1):c.380+1G>A rs267607745
NM_000249.4(MLH1):c.38_39insCCCA (p.Glu13fs) rs63750057
NM_000249.4(MLH1):c.3G>A (p.Met1Ile) rs72481822
NM_000249.4(MLH1):c.453+1G>T rs267607750
NM_000249.4(MLH1):c.456_545+2del rs1553642657
NM_000249.4(MLH1):c.460del (p.Asp154fs) rs1575448385
NM_000249.4(MLH1):c.492del (p.Ala165fs) rs1553642698
NM_000249.4(MLH1):c.546-2_589-59del rs2125805231
NM_000249.4(MLH1):c.55A>T (p.Ile19Phe) rs63750648
NM_000249.4(MLH1):c.588+1G>C rs267607772
NM_000249.4(MLH1):c.588+5G>A rs267607768
NM_000249.4(MLH1):c.589C>T (p.Gln197Ter) rs1553644123
NM_000249.4(MLH1):c.604del (p.Ala202fs) rs1553644155
NM_000249.4(MLH1):c.631_632del (p.Ser211fs) rs2125808812
NM_000249.4(MLH1):c.665del (p.Asn222fs) rs63750385
NM_000249.4(MLH1):c.677+1G>T rs267607778
NM_000249.4(MLH1):c.677+3A>G rs267607780
NM_000249.4(MLH1):c.677G>A (p.Arg226Gln) rs63751711
NM_000249.4(MLH1):c.70del (p.Val24fs) rs63751396
NM_000249.4(MLH1):c.731G>A (p.Gly244Asp) rs63750303
NM_000249.4(MLH1):c.753_755del (p.Tyr251_Ser252delinsTer) rs1553645256
NM_000249.4(MLH1):c.790+1G>A rs267607789
NM_000249.4(MLH1):c.790+2T>C rs267607790
NM_000249.4(MLH1):c.790+4A>G rs267607786
NM_000249.4(MLH1):c.791-1G>A rs267607795
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.883A>C (p.Ser295Arg) rs63751598
NM_000249.4(MLH1):c.883A>G (p.Ser295Gly) rs63751598
NM_000249.4(MLH1):c.898_908del (p.Pro300fs) rs1553647928
NM_000249.4(MLH1):c.908_909del (p.Val303fs) rs1553647947
NM_000249.4(MLH1):c.949del (p.Leu317fs) rs1553648029
NM_000249.4(MLH1):c.970G>T (p.Glu324Ter) rs1553648068
NM_000249.4(MLH1):c.995_996insA (p.Ser332fs) rs2125854201

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