List of variants in gene NCF2 reported as likely pathogenic for immune system disorder

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

Total variants: 21

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000433.4(NCF2):c.1026G>A (p.Lys342=)	rs1459123494	0.00001
NM_000433.4(NCF2):c.1178+1G>A	rs1352107832	0.00001
NM_000433.4(NCF2):c.605C>T (p.Ala202Val)	rs137854508	0.00001
NC_000001.11:g.(?_183577579)_(183577727_?)dup
NM_000433.4(NCF2):c.1000+1G>A	rs2102887348
NM_000433.4(NCF2):c.1026+1G>C	rs1558092897
NM_000433.4(NCF2):c.1098_1099del (p.Gln367fs)
NM_000433.4(NCF2):c.1180T>G (p.Tyr394Asp)
NM_000433.4(NCF2):c.1438del (p.Glu480fs)	rs2102875639
NM_000433.4(NCF2):c.196_197insA (p.Arg66fs)
NM_000433.4(NCF2):c.257+1G>A	rs990043411
NM_000433.4(NCF2):c.290C>A (p.Ala97Asp)
NM_000433.4(NCF2):c.367-1G>A	rs759285400
NM_000433.4(NCF2):c.375_376del (p.Tyr125_Asn126delinsTer)
NM_000433.4(NCF2):c.417del (p.Ala140fs)
NM_000433.4(NCF2):c.500G>A (p.Trp167Ter)
NM_000433.4(NCF2):c.609+1G>A	rs2102903043
NM_000433.4(NCF2):c.609+2T>C
NM_000433.4(NCF2):c.669+1G>A	rs2102898304
NM_000433.4(NCF2):c.714-2A>G
NM_000433.4(NCF2):c.925-2A>G

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.