List of variants in gene FBN2 reported by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001999.4(FBN2):c.5674+7A>G	rs367877964	0.00049
NM_001999.4(FBN2):c.7012+7G>A	rs199735209	0.00042
NM_001999.4(FBN2):c.1850-9C>T	rs199937209	0.00026
NM_001999.4(FBN2):c.6982G>T (p.Ala2328Ser)	rs199910288	0.00006
NM_001999.4(FBN2):c.1990A>T (p.Thr664Ser)	rs746408145	0.00002
NM_001999.4(FBN2):c.1011C>T (p.Thr337=)	rs781086796	0.00001
NM_001999.4(FBN2):c.2555-8G>T	rs2126931540
NM_001999.4(FBN2):c.6349A>G (p.Lys2117Glu)	rs2126821327
NM_001999.4(FBN2):c.8082C>A (p.His2694Gln)	rs142755118

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.