List of variants reported as pathogenic for atypical hemolytic-uremic syndrome by Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
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.1374G>A (p.Met458Ile)	rs200837114	0.00004
NM_000064.4(C3):c.3737_3738del (p.Asp1245_Phe1246insTer)	rs1568212112
NM_000186.4(CFH):c.1126C>T (p.Gln376Ter)	rs1573026975
NM_000186.4(CFH):c.1318_1327del (p.Pro440fs)	rs1558162157
NM_000186.4(CFH):c.2535dup (p.Gln846fs)	rs1573076111
NM_000186.4(CFH):c.2697T>A (p.Tyr899Ter)	rs121913057
NM_000186.4(CFH):c.2950T>C (p.Cys984Arg)	rs886039869
NM_000186.4(CFH):c.3134-2A>G	rs1300996807
NM_000186.4(CFH):c.710_711del (p.Lys236_Cys237insTer)	rs1553273733
NM_172351.3(CD46):c.404del (p.Gly135fs)	rs1571588257
NM_172351.3(CD46):c.542_543del (p.Val180_Phe181insTer)	rs1057516191
NM_172351.3(CD46):c.604C>T (p.Leu202Phe)	rs750324925
NM_172351.3(CD46):c.714_715del (p.Gln238fs)	rs1571616755
NM_172351.3(CD46):c.776del (p.Gly259fs)	rs886039868
NM_172351.3(CD46):c.828G>A (p.Trp276Ter)	rs1571617647

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.