List of variants in gene CFB reported as benign for atypical hemolytic-uremic syndrome

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: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001710.6(CFB):c.2140-74A>G	rs2072633	0.58857
NM_001710.6(CFB):c.*23C>T	rs4151672	0.03305
NM_001710.6(CFB):c.1693A>G (p.Lys565Glu)	rs4151659	0.01851
NM_001710.6(CFB):c.1697A>C (p.Glu566Ala)	rs45484591	0.00913
NM_001710.6(CFB):c.1953T>G (p.Asp651Glu)	rs4151660	0.00673
NM_001710.6(CFB):c.600C>T (p.Ser200=)	rs113197809	0.00527
NM_001710.6(CFB):c.1778+9G>A	rs188688680	0.00301
NM_001710.6(CFB):c.*47C>T	rs375895797	0.00052
NM_001710.6(CFB):c.2100C>T (p.Gly700=)	rs116928087	0.00017
NM_001710.6(CFB):c.1548G>A (p.Val516=)	rs553118090	0.00005
NM_001710.6(CFB):c.1956+10G>A	rs545348156	0.00001
NM_001710.6(CFB):c.1037-10C>G	rs201659953
NM_001710.6(CFB):c.1037-10C>T	rs201659953

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.