ClinVar Miner

List of variants in gene MLH1 reported as likely pathogenic by Integrated Genetics/Laboratory Corporation of America

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 28
Download table as spreadsheet
HGVS dbSNP
NM_000249.3(MLH1):c.1011dup (p.Asn338fs) rs63750677
NM_000249.3(MLH1):c.1032del (p.Phe344fs) rs1553648225
NM_000249.3(MLH1):c.1038G>A (p.Gln346=) rs63751715
NM_000249.3(MLH1):c.1409+1G>A rs267607825
NM_000249.3(MLH1):c.1409+1G>T rs267607825
NM_000249.3(MLH1):c.1410-2_1410-1delinsCC rs1559558071
NM_000249.3(MLH1):c.1517T>C (p.Val506Ala) rs63749909
NM_000249.3(MLH1):c.1558+1G>A rs267607832
NM_000249.3(MLH1):c.156del (p.Glu53fs) rs63750028
NM_000249.3(MLH1):c.1597del (p.Cys533fs) rs1559575107
NM_000249.3(MLH1):c.1731+1G>T rs267607853
NM_000249.3(MLH1):c.174_175delinsT (p.Leu58fs) rs876660860
NM_000249.3(MLH1):c.187G>A (p.Asp63Asn) rs63750850
NM_000249.3(MLH1):c.1897-2A>G rs267607871
NM_000249.3(MLH1):c.1989+1G>T rs267607879
NM_000249.3(MLH1):c.2038T>C (p.Cys680Arg) rs63750809
NM_000249.3(MLH1):c.2059C>T (p.Arg687Trp) rs63751275
NM_000249.3(MLH1):c.2084C>A (p.Ser695Ter) rs63749995
NM_000249.3(MLH1):c.244A>G (p.Thr82Ala) rs587778998
NM_000249.3(MLH1):c.304G>A (p.Glu102Lys) rs63750453
NM_000249.3(MLH1):c.347del (p.Thr116fs) rs876661159
NM_000249.3(MLH1):c.454-1G>C rs193922370
NM_000249.3(MLH1):c.469dup (p.Tyr157fs) rs63751101
NM_000249.3(MLH1):c.860del (p.Asn287fs) rs63750034
NM_000249.3(MLH1):c.927dup (p.Thr310fs) rs1553647995
NM_000249.3(MLH1):c.960_964dup (p.Ile322fs) rs1553648047
NM_000249.3(MLH1):c.971dup (p.Arg325fs) rs587781554
NM_000249.3(MLH1):c.980_983dup (p.His329fs) rs1559544297

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.