List of variants studied for immune system disorder by Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals

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

Total variants: 7

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000431.4(MVK):c.1129G>A (p.Val377Ile)	rs28934897	0.00156
NM_152564.5(VPS13B):c.10081dup (p.Thr3361fs)	rs386834055	0.00001
NM_000431.4(MVK):c.630G>A (p.Trp210Ter)	rs1593021917
NM_004523.4(KIF11):c.478_479del (p.Leu160fs)	rs1589591659
NM_152564.5(VPS13B):c.468_471del (p.Asn157fs)	rs1588038825
NM_152564.5(VPS13B):c.6046+1G>C	rs750003804
NM_152564.5(VPS13B):c.7683del (p.Lys2561fs)	rs771308343

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.