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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001099857.5(IKBKG):c.185G>A (p.Arg62Gln)	rs782604431	0.00011
NM_000074.3(CD40LG):c.421G>C (p.Ala141Pro)	rs1387503550
NM_000116.5(TAFAZZIN):c.790A>G (p.Lys264Glu)	rs1557194488
NM_003998.4(NFKB1):c.904dup (p.Ser302fs)	rs773694113
NM_005214.5(CTLA4):c.118G>A (p.Val40Met)	rs1553657378
NM_005214.5(CTLA4):c.160G>A (p.Ala54Thr)	rs1553657387
NM_032638.5(GATA2):c.526A>C (p.Thr176Pro)	rs1553770978
NM_139276.3(STAT3):c.1853G>A (p.Gly618Asp)	rs1555563871
NM_139276.3(STAT3):c.1909G>A (p.Val637Met)	rs113994139

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.