ClinVar Miner

List of variants in gene MLH1 reported as likely pathogenic by Mayo Clinic Genetic Testing Laboratories,Mayo Clinic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
Download table as spreadsheet
HGVS dbSNP
NM_000249.3(MLH1):c.1032delC (p.Phe344Leufs) rs1553648225
NM_000249.3(MLH1):c.1258delT (p.Ser420Leufs) rs863225373
NM_000249.3(MLH1):c.156delA (p.Glu53Argfs) rs63750028
NM_000249.3(MLH1):c.1719delT (p.Leu574Serfs) rs863225377
NM_000249.3(MLH1):c.1834_1847delGTTGAGTTTCTGAAinsT (p.Val612Terfs) rs863225379
NM_000249.3(MLH1):c.1860dupG (p.Met621Aspfs) rs863225380
NM_000249.3(MLH1):c.1913_1926dupGATTACCCCTTCTG (p.Ile643Aspfs) rs587778958
NM_000249.3(MLH1):c.1990-2A>G rs267607883
NM_000249.3(MLH1):c.2059delC (p.Arg687Glyfs) rs863225381
NM_000249.3(MLH1):c.207+1G>A rs267607718
NM_000249.3(MLH1):c.2252_2253delAA (p.Lys751Serfs) rs267607901
NM_000249.3(MLH1):c.583A>T (p.Lys195Ter) rs863225383

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.