ClinVar Miner

List of variants reported as benign for aortic valve disease 1 by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
Download table as spreadsheet
NM_017617.5(NOTCH1):c.1441+7C>T rs9411208
NM_017617.5(NOTCH1):c.1670-9A>G rs3124603
NM_017617.5(NOTCH1):c.2588-4G>A rs3125001
NM_017617.5(NOTCH1):c.6555C>T (p.Asp2185=) rs2229974
NM_017617.5(NOTCH1):c.852G>A (p.Pro284=) rs2229975

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.