ClinVar Miner

List of variants in gene MTOR reported as likely pathogenic by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004958.4(MTOR):c.4444C>T (p.Arg1482Cys) rs1031980569
NM_004958.4(MTOR):c.5911G>A (p.Ala1971Thr) rs1057524049
NM_004958.4(MTOR):c.6643T>C (p.Ser2215Pro) rs1057519917
NM_004958.4(MTOR):c.7076G>A (p.Gly2359Glu) rs2100323377
NM_004958.4(MTOR):c.7292T>C (p.Leu2431Pro) rs1057524044

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.