List of variants reported as pathogenic for Granulomatous disease, chronic, X-linked by OMIM

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000397.4(CYBB):c.676C>T (p.Arg226Ter)	rs137854592	0.00001
NG_009065.1:g.16964_16965insLINE1
NM_000397.4(CYBB):c.1462-2A>G	rs2146821097
NM_000397.4(CYBB):c.1499A>G (p.Asp500Gly)	rs137854593
NM_000397.4(CYBB):c.217C>T (p.Arg73Ter)	rs137854588
NM_000397.4(CYBB):c.252+5G>A	rs1602175016
NM_000397.4(CYBB):c.252G>A (p.Ala84=)	rs387906485
NM_000397.4(CYBB):c.45+6T>C	rs1569478551
NM_000397.4(CYBB):c.483+979G>T	rs2146810847
NM_000397.4(CYBB):c.625C>T (p.His209Tyr)	rs137854587
NM_000397.4(CYBB):c.90_92delinsGGT (p.Tyr30_Arg31delinsTer)	rs387906486
NM_000397.4(CYBB):c.911C>G (p.Pro304Arg)	rs137854596
NM_000397.4:c.484-262_484-261insLINE1

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.