ClinVar Miner

List of variants studied for complement factor b deficiency

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001710.6(CFB):c.450A>G (p.Arg150=) rs1048709 0.85323
NM_001710.6(CFB):c.2140-74A>G rs2072633 0.58857
NM_001710.5(CFB):c.94C>T (p.Arg32Trp) rs12614 0.17324
NM_001710.6(CFB):c.26T>A (p.Leu9His) rs4151667 0.03314
NM_001710.6(CFB):c.1697A>C (p.Glu566Ala) rs45484591 0.00913
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.658+7T>C rs541260302 0.00049
NM_001710.6(CFB):c.2100C>T (p.Gly700=) rs116928087 0.00017
NM_001710.6(CFB):c.1778+8C>T rs148298609 0.00005
NM_001710.6(CFB):c.1374G>A (p.Met458Ile) rs200837114 0.00004
NM_001710.6(CFB):c.-3G>A rs755016493 0.00003
NM_001710.6(CFB):c.766C>T (p.Gln256Ter) rs398123065 0.00003
NM_001710.6(CFB):c.1198A>G (p.Thr400Ala) rs1771612209
NM_001710.6(CFB):c.124del (p.Gly41_Val42insTer)
NM_001710.6(CFB):c.1895_1898del (p.Phe632fs) rs398124644
NM_001710.6(CFB):c.898-2A>C

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.