List of variants reported as pathogenic for Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3

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: 18

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000631.5(NCF4):c.758+50C>T	rs201021542	0.00011
NM_000631.5(NCF4):c.118-1G>A	rs28445840	0.00006
NM_000631.5(NCF4):c.759-1G>C	rs200347935	0.00006
NM_000631.5(NCF4):c.314G>A (p.Arg105Gln)	rs387906808	0.00003
NM_000631.5(NCF4):c.143_152dup (p.Lys52fs)	rs869025585	0.00002
NM_000631.5(NCF4):c.529-2A>T	rs199890705	0.00002
NM_000631.5(NCF4):c.13C>T (p.Gln5Ter)
NM_000631.5(NCF4):c.143_152del (p.Lys48fs)	rs876657377
NM_000631.5(NCF4):c.256del (p.Leu86fs)	rs1327793505
NM_000631.5(NCF4):c.32+2T>G	rs1601543670
NM_000631.5(NCF4):c.367del (p.Val123fs)	rs2517920041
NM_000631.5(NCF4):c.456del (p.Arg153fs)	rs2548810898
NM_000631.5(NCF4):c.716G>A (p.Trp239Ter)	rs1940176752
NM_000631.5(NCF4):c.758+28_758+29insA	rs2517929064
NM_000631.5(NCF4):c.758+36_758+81del	rs2517929080
NM_000631.5(NCF4):c.759-19C>T	rs758210984
NM_000631.5(NCF4):c.759-24T>G	rs2517929586
NM_000631.5(NCF4):c.759-40C>T	rs1940184559

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.