ClinVar Miner

List of variants in gene CIITA reported as pathogenic for MHC class II deficiency

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
Download table as spreadsheet
NM_000246.3(CIITA):c.1962dup (p.Gly655fs) rs778982759
NM_000246.3(CIITA):c.2026C>T (p.Gln676Ter) rs901844850
NM_000246.3(CIITA):c.2888+1G>A rs372826934
NM_000246.3(CIITA):c.922C>T (p.Arg308Ter) rs567218474

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.