ClinVar Miner

List of variants reported as benign for atypical hemolytic-uremic syndrome with B factor anomaly

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 26
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_001710.5(CFB):c.95G>A (p.Arg32Gln) rs641153 0.11820
NM_001710.6(CFB):c.26T>A (p.Leu9His) rs4151667 0.03314
NM_001710.6(CFB):c.*23C>T rs4151672 0.03305
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.1693A>G (p.Lys565Glu) rs4151659 0.01851
NM_001710.6(CFB):c.405C>T (p.Tyr135=) rs4151650 0.01202
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.1953T>G (p.Asp651Glu) rs4151660 0.00673
NM_001710.6(CFB):c.600C>T (p.Ser200=) rs113197809 0.00527
NM_001710.6(CFB):c.1598A>G (p.Lys533Arg) rs149101394 0.00391
NM_001710.6(CFB):c.1778+9G>A rs188688680 0.00301
NM_001710.6(CFB):c.1143C>T (p.Arg381=) rs150920440 0.00175
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
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.