ClinVar Miner

List of variants reported as likely pathogenic by Department of Immunology,University Hospital Southampton NHSFT

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
Download table as spreadsheet
NM_000116.5(TAZ):c.790A>G (p.Lys264Glu) rs1557194488
NM_003639.4(IKBKG):c.185G>A (p.Arg62Gln) rs782604431
NM_005214.5(CTLA4):c.118G>A (p.Val40Met) rs1553657378
NM_005214.5(CTLA4):c.160G>A (p.Ala54Thr) rs1553657387
NM_032638.4(GATA2):c.526A>C (p.Thr176Pro) rs1553770978

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.