ClinVar Miner

List of variants reported for Marfan syndrome by Undiagnosed Diseases Network, NIH

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 3

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn)	rs794728208
NM_000138.5(FBN1):c.6998-13A>G	rs2042989627
NM_000138.5(FBN1):c.871G>T (p.Glu291Ter)	rs1232880706

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.