ClinVar Miner

List of variants studied for Intellectual disability, autosomal dominant 45 by OMIM

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001386298.1(CIC):c.3784C>T (p.Arg1262Ter) rs1135401823
NM_001386298.1(CIC):c.4201C>T (p.Arg1401Trp) rs373584239
NM_001386298.1(CIC):c.4528_4535dup (p.Glu1513fs) rs1135401824
NM_001386298.1(CIC):c.5298_5313del (p.Pro1767fs) rs1555769968
NM_001386298.1(CIC):c.5701C>T (p.Gln1901Ter) rs1135401825

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.