ClinVar Miner

List of variants in gene MTOR studied for CEBALID syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004958.4(MTOR):c.4356A>T (p.Lys1452Asn) rs1644348291
NM_004958.4(MTOR):c.4448G>A (p.Cys1483Tyr) rs786205165
NM_004958.4(MTOR):c.4555G>A (p.Ala1519Thr) rs1644090362
NM_004958.4(MTOR):c.4556C>T (p.Ala1519Val) rs1644090272
NM_004958.4(MTOR):c.5395G>A (p.Glu1799Lys) rs863225264
NM_004958.4(MTOR):c.5930C>T (p.Thr1977Ile) rs587777893
NM_004958.4(MTOR):c.6050T>C (p.Ile2017Thr) rs1642915400
NM_004958.4(MTOR):c.7238G>T (p.Ser2413Ile) rs1553171141
NM_004958.4(MTOR):c.7255G>A (p.Glu2419Lys) rs587777900
NM_004958.4(MTOR):c.7280T>C (p.Leu2427Pro) rs1085307113
NM_004958.4(MTOR):c.7501A>T (p.Ile2501Phe) rs968817513

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.