ClinVar Miner

List of variants in gene TUSC3 reported as benign for autosomal recessive non-syndromic intellectual disability

Included ClinVar conditions (71):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006765.4(TUSC3):c.309-6T>C rs1035972 0.31124
NM_006765.4(TUSC3):c.912G>A (p.Ser304=) rs17121892 0.02710
NM_006765.4(TUSC3):c.193A>G (p.Ile65Val) rs11545035 0.00605
NM_006765.4(TUSC3):c.862+19G>A rs144272482 0.00435
NM_006765.4(TUSC3):c.937+11G>C rs371792364 0.00064
NM_006765.4(TUSC3):c.1028+11T>C rs187670751 0.00025
NM_006765.4(TUSC3):c.568-15A>G rs186717319 0.00018
NM_006765.4(TUSC3):c.309-15C>G
NM_006765.4(TUSC3):c.87C>T (p.Leu29=) rs78626330

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.