ClinVar Miner

List of variants in gene MLH1 reported as pathogenic by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Gene type:
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Total variants: 67
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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.298C>T (p.Arg100Ter) rs63751221 0.00001
NC_000003.11:g.(37045966_37048481)_(37048555_37050304)del
NC_000003.11:g.(37061955_37067127)_(37067499_37070274)del
NC_000003.11:g.(37061955_37067127)_(37070424_37081676)dup
NC_000003.11:g.(37083823_37089009)_(37089175_37090007)del
NC_000003.12:g.(37042332_37047518)_(37050847_?)del
NC_000003.12:g.(?_36993349)_(37028933_37040185)del
NM_000249.4(MLH1):c.1024_1038+1del rs1553648201
NM_000249.4(MLH1):c.117-2A>G rs267607712
NM_000249.4(MLH1):c.1210_1211del (p.Leu404fs) rs63751015
NM_000249.4(MLH1):c.1219C>T (p.Gln407Ter) rs1057517541
NM_000249.4(MLH1):c.1225C>T (p.Gln409Ter) rs63751153
NM_000249.4(MLH1):c.1381A>T (p.Lys461Ter) rs63750540
NM_000249.4(MLH1):c.1409+1G>C rs267607825
NM_000249.4(MLH1):c.1411_1414del (p.Lys471Aspfs) rs63751592
NM_000249.4(MLH1):c.1459C>T (p.Arg487Ter) rs63749795
NM_000249.4(MLH1):c.1489dup (p.Arg497fs) rs63750855
NM_000249.4(MLH1):c.1512_1513del (p.Ser505fs)
NM_000249.4(MLH1):c.1559-1G>T rs267607837
NM_000249.4(MLH1):c.1667+1G>A rs1434898623
NM_000249.4(MLH1):c.1684C>T (p.Gln562Ter) rs63751460
NM_000249.4(MLH1):c.1731+1G>A rs267607853
NM_000249.4(MLH1):c.1731G>A (p.Ser577=) rs63751657
NM_000249.4(MLH1):c.1758dup (p.Met587fs) rs63749863
NM_000249.4(MLH1):c.1769T>G (p.Leu590Ter) rs1553662753
NM_000249.4(MLH1):c.1772_1775del (p.Asp591fs) rs63749868
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.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.1896G>A (p.Glu632=) rs63751632
NM_000249.4(MLH1):c.1975C>T (p.Arg659Ter) rs63751310
NM_000249.4(MLH1):c.199G>A (p.Gly67Arg) rs63750206
NM_000249.4(MLH1):c.199G>C (p.Gly67Arg) rs63750206
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr) rs63750217
NM_000249.4(MLH1):c.2093C>G (p.Ser698Ter) rs587778975
NM_000249.4(MLH1):c.2101C>T (p.Gln701Ter) rs63750114
NM_000249.4(MLH1):c.2103G>C (p.Gln701His) rs63750603
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.2142del (p.Lys713_Trp714insTer)
NM_000249.4(MLH1):c.2162del (p.Tyr721fs) rs786202767
NM_000249.4(MLH1):c.2252_2253dup (p.Val752fs) 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.245C>T (p.Thr82Ile) rs63750005
NM_000249.4(MLH1):c.306G>T (p.Glu102Asp) rs63751665
NM_000249.4(MLH1):c.350C>T (p.Thr117Met) rs63750781
NM_000249.4(MLH1):c.454-1G>A rs193922370
NM_000249.4(MLH1):c.545+3A>G rs267607760
NM_000249.4(MLH1):c.588+5G>A rs267607768
NM_000249.4(MLH1):c.589-2A>G rs267607767
NM_000249.4(MLH1):c.650del (p.Arg217fs)
NM_000249.4(MLH1):c.676C>T (p.Arg226Ter) rs63751615
NM_000249.4(MLH1):c.677+1G>T rs267607778
NM_000249.4(MLH1):c.677G>A (p.Arg226Gln) rs63751711
NM_000249.4(MLH1):c.67G>T (p.Glu23Ter) rs63750823
NM_000249.4(MLH1):c.67del (p.Glu23fs) rs63750822
NM_000249.4(MLH1):c.731G>A (p.Gly244Asp) rs63750303
NM_000249.4(MLH1):c.790+1G>A rs267607789
NM_000249.4(MLH1):c.790+2dup rs267607791
NM_000249.4(MLH1):c.793C>T (p.Arg265Cys) rs63751194
NM_000249.4(MLH1):c.83C>T (p.Pro28Leu) rs63750792
NM_000249.4(MLH1):c.882C>T (p.Leu294=) rs63751707

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