List of variants in gene MTOR reported as likely benign for central nervous system malformation

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 15

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_004958.4(MTOR):c.2649+9C>T	rs144243347	0.00459
NM_004958.4(MTOR):c.1145A>G (p.Asn382Ser)	rs146393749	0.00039
NM_004958.4(MTOR):c.5501C>T (p.Thr1834Met)	rs142403193	0.00036
NM_004958.4(MTOR):c.6440A>C (p.Asn2147Thr)	rs767933385	0.00025
NM_004958.4(MTOR):c.706-18C>A	rs778886695	0.00010
NM_004958.4(MTOR):c.6810+12G>A	rs373052413	0.00006
NM_004958.4(MTOR):c.3646A>G (p.Ile1216Val)	rs760415071	0.00002
NM_004958.4(MTOR):c.1081T>A (p.Cys361Ser)	rs778914291	0.00001
NM_004958.4(MTOR):c.6169A>G (p.Met2057Val)	rs1010993658	0.00001
NM_004958.4(MTOR):c.7447+27C>A	rs369718641	0.00001
NM_004958.4(MTOR):c.112G>A (p.Ala38Thr)	rs138117203
NM_004958.4(MTOR):c.1256A>G (p.His419Arg)
NM_004958.4(MTOR):c.2331+6A>G	rs761030701
NM_004958.4(MTOR):c.348C>T (p.Pro116=)	rs558389352
NM_004958.4(MTOR):c.5506G>A (p.Ala1836Thr)	rs180992388

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.