List of variants reported as benign for Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 by Illumina Laboratory Services, Illumina

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_000433.4(NCF2):c.*398G>T	rs796860	0.89972
NM_000433.4(NCF2):c.542A>G (p.Lys181Arg)	rs2274064	0.45154
NM_000433.3(NCF2):c.-240T>G	rs2274065	0.19754
NM_000433.4(NCF2):c.606G>A (p.Ala202=)	rs17849501	0.03621
NM_000433.4(NCF2):c.1167C>A (p.His389Gln)	rs17849502	0.03605
NM_000433.4(NCF2):c.890T>C (p.Val297Ala)	rs35937854	0.01284
NM_000433.4(NCF2):c.1001-10T>G	rs36113295	0.01255
NM_000433.4(NCF2):c.-129T>C	rs34501573	0.01213
NM_000433.4(NCF2):c.174+8G>C	rs34009795	0.00565
NM_000433.4(NCF2):c.1081A>T (p.Thr361Ser)	rs147744729	0.00169
NM_000433.4(NCF2):c.836C>T (p.Thr279Met)	rs13306581	0.00088
NM_000433.4(NCF2):c.1179-4C>G	rs55795842	0.00066
NM_000433.4(NCF2):c.1157G>A (p.Arg386Gln)	rs147908264	0.00045

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.