List of variants in gene FBN1 reported as not provided by GenomeConnect - Invitae Patient Insights Network

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000138.5(FBN1):c.1373A>G (p.Tyr458Cys)	rs749133312	0.00001
NM_000138.5(FBN1):c.8418C>G (p.Ile2806Met)	rs1480715909	0.00001
NM_000138.5(FBN1):c.2055C>G (p.Cys685Trp)	rs140603
NM_000138.5(FBN1):c.229G>A (p.Gly77Arg)	rs794728290
NM_000138.5(FBN1):c.5018T>C (p.Ile1673Thr)	rs2043300504
NM_000138.5(FBN1):c.5485G>C (p.Gly1829Arg)	rs1597537835
NM_000138.5(FBN1):c.8014T>G (p.Cys2672Gly)	rs1555393833

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.