List of variants in gene combination C2, CFB reported as benign 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: 15

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001710.6(CFB):c.450A>G (p.Arg150=)	rs1048709	0.85323
NM_001710.5(CFB):c.94C>T (p.Arg32Trp)	rs12614	0.17324
NM_001710.5(CFB):c.95G>A (p.Arg32Gln)	rs641153	0.11820
NM_000063.6(C2):c.1902+6G>C	rs9332730	0.05089
NM_001710.6(CFB):c.26T>A (p.Leu9His)	rs4151667	0.03314
NM_001710.6(CFB):c.504G>A (p.Pro168=)	rs4151669	0.03288
NM_001710.6(CFB):c.754G>A (p.Gly252Ser)	rs4151651	0.02344
NM_001710.6(CFB):c.672C>T (p.Tyr224=)	rs4151670	0.02070
NM_001710.6(CFB):c.1365C>T (p.Val455=)	rs2072634	0.01961
NM_001710.6(CFB):c.405C>T (p.Tyr135=)	rs4151650	0.01202
NM_001710.6(CFB):c.1137C>T (p.Arg379=)	rs45600936	0.00911
NM_001710.6(CFB):c.1598A>G (p.Lys533Arg)	rs149101394	0.00391
NM_001710.6(CFB):c.858C>T (p.Phe286=)	rs117905900	0.00285
NM_001710.6(CFB):c.1143C>T (p.Arg381=)	rs150920440	0.00175
NM_001710.6(CFB):c.1524C>T (p.His508=)	rs138207668

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.