List of variants studied for Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 by Revvity Omics, Revvity

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

Total variants: 6

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000433.4(NCF2):c.1081A>T (p.Thr361Ser)	rs147744729	0.00169
NM_000433.4(NCF2):c.938C>T (p.Pro313Leu)	rs137937390	0.00078
NM_000433.4(NCF2):c.1A>T (p.Met1Leu)	rs780810631
NM_000433.4(NCF2):c.298C>T (p.Gln100Ter)	rs119103276
NM_000433.4(NCF2):c.713+1G>A	rs763317358
NM_000433.4(NCF2):c.944C>A (p.Ser315Tyr)

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.