ClinVar Miner

Variants in gene MLH1 with conflicting interpretations "likely pathogenic" and "pathogenic"

Submission 1 (likely pathogenic) minimum review status: Submission 1 (likely pathogenic) method:
Submission 2 (pathogenic) minimum review status: Submission 2 (pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 108
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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.2080G>T (p.Glu694Ter) rs147542208 0.00001
NM_000249.4(MLH1):c.244A>G (p.Thr82Ala) rs587778998 0.00001
NM_000249.4(MLH1):c.-27C>A rs587779001
NM_000249.4(MLH1):c.1011dup (p.Asn338fs) rs63750677
NM_000249.4(MLH1):c.1024_1038+1del rs1553648201
NM_000249.4(MLH1):c.1038+1G>C rs267607816
NM_000249.4(MLH1):c.1038G>A (p.Gln346=) rs63751715
NM_000249.4(MLH1):c.1039-1G>T
NM_000249.4(MLH1):c.1039-2A>G rs267607815
NM_000249.4(MLH1):c.1219C>T (p.Gln407Ter) rs1057517541
NM_000249.4(MLH1):c.1297G>T (p.Glu433Ter) rs63750443
NM_000249.4(MLH1):c.1378G>T (p.Glu460Ter) rs756843954
NM_000249.4(MLH1):c.1409+1G>A rs267607825
NM_000249.4(MLH1):c.1409+1G>T rs267607825
NM_000249.4(MLH1):c.1410-2_1410-1delinsCC rs1559558071
NM_000249.4(MLH1):c.1502_1503delinsA (p.Ile501fs) rs1553653084
NM_000249.4(MLH1):c.1528_1532delinsACTAGTTTG (p.Gln510fs) rs2083718945
NM_000249.4(MLH1):c.156del (p.Glu53fs) rs63750028
NM_000249.4(MLH1):c.1633dup (p.Thr545fs) rs1553658104
NM_000249.4(MLH1):c.1649T>C (p.Leu550Pro) rs63750193
NM_000249.4(MLH1):c.1667+1G>A rs1434898623
NM_000249.4(MLH1):c.1667+2T>C rs878853780
NM_000249.4(MLH1):c.1668-1G>A rs267607845
NM_000249.4(MLH1):c.1668-2A>C rs1559578422
NM_000249.4(MLH1):c.1688_1689del (p.Ile563fs) rs863225376
NM_000249.4(MLH1):c.1731+1G>T rs267607853
NM_000249.4(MLH1):c.1731G>A (p.Ser577=) rs63751657
NM_000249.4(MLH1):c.1740_1753del (p.Pro581fs) rs1553662622
NM_000249.4(MLH1):c.1841_1842del (p.Phe614fs)
NM_000249.4(MLH1):c.1846AAG[2] (p.Lys618del) rs63751247
NM_000249.4(MLH1):c.1858del (p.Glu620fs) rs786203456
NM_000249.4(MLH1):c.187G>A (p.Asp63Asn) rs63750850
NM_000249.4(MLH1):c.188A>T (p.Asp63Val) rs1064795693
NM_000249.4(MLH1):c.1896+1G>T rs267607867
NM_000249.4(MLH1):c.1896G>A (p.Glu632=) rs63751632
NM_000249.4(MLH1):c.1918C>T (p.Pro640Ser) rs63749792
NM_000249.4(MLH1):c.193_201delinsC (p.Gly65fs)
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.1976G>T (p.Arg659Leu) rs63749900
NM_000249.4(MLH1):c.1989+1G>T rs267607879
NM_000249.4(MLH1):c.1989+5G>A rs267607878
NM_000249.4(MLH1):c.1989+5G>T rs267607878
NM_000249.4(MLH1):c.1990-1G>C rs267607884
NM_000249.4(MLH1):c.199G>A (p.Gly67Arg) rs63750206
NM_000249.4(MLH1):c.2038T>C (p.Cys680Arg) rs63750809
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr) rs63750217
NM_000249.4(MLH1):c.2041G>C (p.Ala681Pro) rs63750217
NM_000249.4(MLH1):c.2054C>T (p.Ser685Phe) rs1064796101
NM_000249.4(MLH1):c.207+2T>C rs267607722
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.208-3C>G rs267607720
NM_000249.4(MLH1):c.2084C>A (p.Ser695Ter) rs63749995
NM_000249.4(MLH1):c.2103+3A>G rs587778976
NM_000249.4(MLH1):c.2187_2190dup (p.Pro731fs)
NM_000249.4(MLH1):c.2252_2253del (p.Lys751fs) rs267607901
NM_000249.4(MLH1):c.230G>A (p.Cys77Tyr) rs63750437
NM_000249.4(MLH1):c.245C>T (p.Thr82Ile) rs63750005
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.304G>A (p.Glu102Lys) rs63750453
NM_000249.4(MLH1):c.306G>T (p.Glu102Asp) rs63751665
NM_000249.4(MLH1):c.325del (p.His109fs) rs1553641273
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.366_369del (p.Lys123fs)
NM_000249.4(MLH1):c.380+2T>C rs267607742
NM_000249.4(MLH1):c.381-1G>A rs267607744
NM_000249.4(MLH1):c.381-1G>C rs267607744
NM_000249.4(MLH1):c.393del (p.Asp132fs) rs2081922847
NM_000249.4(MLH1):c.3G>A (p.Met1Ile) rs72481822
NM_000249.4(MLH1):c.404_407del (p.Leu135fs) rs587779014
NM_000249.4(MLH1):c.453+1G>T rs267607750
NM_000249.4(MLH1):c.454-13A>G rs267607749
NM_000249.4(MLH1):c.546-1G>A rs587779022
NM_000249.4(MLH1):c.546-2A>T rs267607759
NM_000249.4(MLH1):c.583A>T (p.Lys195Ter) rs863225383
NM_000249.4(MLH1):c.589-1G>A rs587779027
NM_000249.4(MLH1):c.589-1G>T rs587779027
NM_000249.4(MLH1):c.62C>T (p.Ala21Val) rs63750706
NM_000249.4(MLH1):c.677+1G>A rs267607778
NM_000249.4(MLH1):c.677+1G>C rs267607778
NM_000249.4(MLH1):c.677+5G>A rs587779034
NM_000249.4(MLH1):c.677G>T (p.Arg226Leu) rs63751711
NM_000249.4(MLH1):c.678-2A>G rs587779035
NM_000249.4(MLH1):c.739T>C (p.Ser247Pro) rs63750948
NM_000249.4(MLH1):c.790+1G>A rs267607789
NM_000249.4(MLH1):c.790+4A>G rs267607786
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.816del (p.Arg273fs) rs2125837110
NM_000249.4(MLH1):c.84del (p.Ala29fs) rs587779045
NM_000249.4(MLH1):c.860del (p.Asn287fs) rs63750034
NM_000249.4(MLH1):c.882C>T (p.Leu294=) rs63751707
NM_000249.4(MLH1):c.884+1G>A rs1553646764
NM_000249.4(MLH1):c.884+3A>G rs267607803
NM_000249.4(MLH1):c.884+4A>G rs267607777
NM_000249.4(MLH1):c.885-1G>A rs1553647894
NM_000249.4(MLH1):c.927dup (p.Thr310fs) rs1553647995
NM_000249.4(MLH1):c.9_21del (p.Phe3fs) rs1064795341
NM_001354629.2(MLH1):c.208-3445_208-3433del rs1057517543

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.