ClinVar Miner

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

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Gene type:
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Total variants: 119
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HGVS dbSNP gnomAD frequency
NM_000249.4(MLH1):c.191A>G (p.Asn64Ser) rs63750952 0.00003
NM_000249.4(MLH1):c.1517T>C (p.Val506Ala) rs63749909 0.00001
NM_000249.4(MLH1):c.1667G>C (p.Ser556Thr) rs63751596 0.00001
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.244A>G (p.Thr82Ala) rs587778998 0.00001
NM_000249.4(MLH1):c.306G>A (p.Glu102=) rs63751665 0.00001
NM_000249.4(MLH1):c.1029C>G (p.Tyr343Ter) rs1553648220
NM_000249.4(MLH1):c.1032del (p.Phe344fs) rs1553648225
NM_000249.4(MLH1):c.1038+1G>A rs267607816
NM_000249.4(MLH1):c.1038G>A (p.Gln346=) rs63751715
NM_000249.4(MLH1):c.1039-2A>G rs267607815
NM_000249.4(MLH1):c.1039-3C>G rs730881737
NM_000249.4(MLH1):c.1046_1047delinsC (p.Leu349fs)
NM_000249.4(MLH1):c.1047_1049delinsT (p.Pro350fs) rs1559551570
NM_000249.4(MLH1):c.112A>T (p.Asn38Tyr) rs63750580
NM_000249.4(MLH1):c.1258del (p.Ser420fs) rs863225373
NM_000249.4(MLH1):c.1348dup (p.Asp450fs) rs587778906
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.1502_1503delinsA (p.Ile501fs) rs1553653084
NM_000249.4(MLH1):c.1520_1521insTA (p.Leu507fs) rs1553653135
NM_000249.4(MLH1):c.1558+1G>A rs267607832
NM_000249.4(MLH1):c.1559-1G>A rs267607837
NM_000249.4(MLH1):c.1559-1G>C rs267607837
NM_000249.4(MLH1):c.1559-2A>C rs267607836
NM_000249.4(MLH1):c.1569del (p.Met524fs) rs1559574795
NM_000249.4(MLH1):c.156del (p.Glu53fs) rs63750028
NM_000249.4(MLH1):c.1621G>C (p.Ala541Pro) rs1064793578
NM_000249.4(MLH1):c.1667G>A (p.Ser556Asn) rs63751596
NM_000249.4(MLH1):c.1676T>C (p.Leu559Pro) rs63750059
NM_000249.4(MLH1):c.1688_1689del (p.Ile563fs) rs863225376
NM_000249.4(MLH1):c.1719del (p.Leu574fs) rs863225377
NM_000249.4(MLH1):c.1731+1G>T rs267607853
NM_000249.4(MLH1):c.1731+5G>A rs267607850
NM_000249.4(MLH1):c.1731G>A (p.Ser577=) rs63751657
NM_000249.4(MLH1):c.1732-2A>C rs267607852
NM_000249.4(MLH1):c.1732-2A>G rs267607852
NM_000249.4(MLH1):c.1744C>T (p.Leu582Phe) rs63751713
NM_000249.4(MLH1):c.1745del (p.Leu582fs) rs587778942
NM_000249.4(MLH1):c.1757C>A (p.Ala586Asp) rs63750587
NM_000249.4(MLH1):c.1765_1769del (p.Ala589fs)
NM_000249.4(MLH1):c.1832TTG[1] (p.Val612del) rs63750486
NM_000249.4(MLH1):c.1834_1847delinsT (p.Ile611_Val612insTer) rs863225379
NM_000249.4(MLH1):c.1860dup (p.Met621fs) rs863225380
NM_000249.4(MLH1):c.187G>A (p.Asp63Asn) rs63750850
NM_000249.4(MLH1):c.188A>G (p.Asp63Gly) rs1064795693
NM_000249.4(MLH1):c.188A>T (p.Asp63Val) rs1064795693
NM_000249.4(MLH1):c.1896+1G>T rs267607867
NM_000249.4(MLH1):c.1896+2T>C rs267607869
NM_000249.4(MLH1):c.1907_1920del (p.Leu636fs) rs1553663750
NM_000249.4(MLH1):c.1913_1926dup (p.Ile643delinsAspTyrProPheTer) rs587778958
NM_000249.4(MLH1):c.1918C>T (p.Pro640Ser) rs63749792
NM_000249.4(MLH1):c.1938_1945dup (p.Pro649fs) rs1064794331
NM_000249.4(MLH1):c.193_201delinsC (p.Gly65fs)
NM_000249.4(MLH1):c.1989+1G>C rs267607879
NM_000249.4(MLH1):c.1989+2T>C rs1553664119
NM_000249.4(MLH1):c.1989+5G>T rs267607878
NM_000249.4(MLH1):c.1989G>A (p.Glu663=) rs63751662
NM_000249.4(MLH1):c.1990-2A>G rs267607883
NM_000249.4(MLH1):c.2030del (p.Ser677fs)
NM_000249.4(MLH1):c.2032A>T (p.Lys678Ter) rs1553664436
NM_000249.4(MLH1):c.2035G>T (p.Glu679Ter) rs587778971
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr) rs63750217
NM_000249.4(MLH1):c.2042C>T (p.Ala681Val) rs63750864
NM_000249.4(MLH1):c.2054C>T (p.Ser685Phe) rs1064796101
NM_000249.4(MLH1):c.2059del (p.Arg687fs) rs863225381
NM_000249.4(MLH1):c.207+2T>C rs267607722
NM_000249.4(MLH1):c.2070_2071insTT (p.Ile691fs) rs876659681
NM_000249.4(MLH1):c.208-3C>A
NM_000249.4(MLH1):c.208-3C>G rs267607720
NM_000249.4(MLH1):c.2101C>T (p.Gln701Ter) rs63750114
NM_000249.4(MLH1):c.2103+1G>T rs267607888
NM_000249.4(MLH1):c.2103+3A>G rs587778976
NM_000249.4(MLH1):c.2104-1G>C
NM_000249.4(MLH1):c.2172dup (p.Arg725fs)
NM_000249.4(MLH1):c.2181_2182del (p.Ile728fs) rs267607898
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.2252_2253dup (p.Val752fs) rs267607901
NM_000249.4(MLH1):c.230G>C (p.Cys77Ser) rs63750437
NM_000249.4(MLH1):c.250A>G (p.Lys84Glu) rs63750641
NM_000249.4(MLH1):c.258del (p.Gln86fs)
NM_000249.4(MLH1):c.27G>A (p.Arg9=) rs759680369
NM_000249.4(MLH1):c.283del (p.Ser95fs) rs1064795441
NM_000249.4(MLH1):c.301G>A (p.Gly101Ser) rs267607726
NM_000249.4(MLH1):c.302G>A (p.Gly101Asp) rs267607727
NM_000249.4(MLH1):c.304G>A (p.Glu102Lys) rs63750453
NM_000249.4(MLH1):c.307-2A>G rs267607732
NM_000249.4(MLH1):c.326A>C (p.His109Pro) rs587779004
NM_000249.4(MLH1):c.34dup (p.Asp12fs) rs1553637196
NM_000249.4(MLH1):c.350C>G (p.Thr117Arg) rs63750781
NM_000249.4(MLH1):c.380G>T (p.Arg127Ile) rs63751595
NM_000249.4(MLH1):c.381-1G>A rs267607744
NM_000249.4(MLH1):c.381-1G>C rs267607744
NM_000249.4(MLH1):c.404_407del (p.Leu135fs) rs587779014
NM_000249.4(MLH1):c.404dup (p.Lys136fs) rs1553642079
NM_000249.4(MLH1):c.453+1G>T rs267607750
NM_000249.4(MLH1):c.454-13A>G rs267607749
NM_000249.4(MLH1):c.545+1G>T rs267607765
NM_000249.4(MLH1):c.55A>T (p.Ile19Phe) rs63750648
NM_000249.4(MLH1):c.583A>T (p.Lys195Ter) rs863225383
NM_000249.4(MLH1):c.62C>T (p.Ala21Val) rs63750706
NM_000249.4(MLH1):c.673dup (p.Ser225fs) rs1575469505
NM_000249.4(MLH1):c.677G>T (p.Arg226Leu) rs63751711
NM_000249.4(MLH1):c.678-3T>A rs267607785
NM_000249.4(MLH1):c.696_698del (p.Cys233del) rs1575480253
NM_000249.4(MLH1):c.783del (p.Phe261fs) rs2125823340
NM_000249.4(MLH1):c.790+1G>A rs267607789
NM_000249.4(MLH1):c.791-5T>G rs267607788
NM_000249.4(MLH1):c.793del (p.Arg265fs) rs863225384
NM_000249.4(MLH1):c.794G>C (p.Arg265Pro) rs63751448
NM_000249.4(MLH1):c.86C>G (p.Ala29Gly) rs63750216
NM_000249.4(MLH1):c.882C>T (p.Leu294=) rs63751707
NM_000249.4(MLH1):c.884+3A>G rs267607803
NM_000249.4(MLH1):c.923A>T (p.His308Leu)
NM_000249.4(MLH1):c.927dup (p.Thr310fs) rs1553647995
NM_000249.4(MLH1):c.960_964dup (p.Ile322fs) rs1553648047

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