ClinVar Miner

List of variants studied for atypical hemolytic-uremic syndrome with MCP/CD46 anomaly by Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
Download table as spreadsheet
NM_002389.4(CD46):c.404del (p.Gly135fs)
NM_002389.4(CD46):c.542_543del (p.Val180_Phe181insTer) rs1057516191
NM_002389.4(CD46):c.604C>T (p.Leu202Phe) rs750324925
NM_002389.4(CD46):c.685C>T (p.Arg229Ter) rs1553251787
NM_002389.4(CD46):c.776del (p.Gly259fs) rs886039868

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.