ClinVar Miner

List of variants in gene CFB reported as likely benign for complement deficiency

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001710.6(CFB):c.1697A>C (p.Glu566Ala) rs45484591 0.00913
NM_001710.6(CFB):c.600C>T (p.Ser200=) rs113197809 0.00527
NM_001710.6(CFB):c.724A>C (p.Ile242Leu) rs144812066 0.00175
NM_001710.6(CFB):c.1407C>G (p.Ile469Met) rs201798809 0.00019
NM_001710.6(CFB):c.2100C>T (p.Gly700=) rs116928087 0.00017
NM_001710.6(CFB):c.291G>A (p.Glu97=) rs138236643 0.00014
NM_001710.6(CFB):c.1838C>T (p.Thr613Ile) rs201754399 0.00007
NM_001710.6(CFB):c.784G>A (p.Val262Ile) rs200645483 0.00007
NM_001710.6(CFB):c.1778+8C>T rs148298609 0.00005
NM_001710.6(CFB):c.604C>T (p.Arg202Trp) rs537478097 0.00004
NM_001710.6(CFB):c.720G>A (p.Glu240=) rs753831049 0.00002
NM_001710.5(CFB):c.-186delG rs796979529

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.