List of variants in gene FBN1 reported as pathogenic by Clinical Genetics and Genomics, Karolinska University Hospital

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: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr)	rs727503054	0.00002
NM_000138.5(FBN1):c.2638G>A (p.Gly880Ser)	rs794728194
NM_000138.5(FBN1):c.2645C>T (p.Ala882Val)	rs794728195
NM_000138.5(FBN1):c.2860C>T (p.Arg954Cys)	rs1555398835
NM_000138.5(FBN1):c.3217G>T (p.Glu1073Ter)	rs137854478
NM_000138.5(FBN1):c.364C>T (p.Arg122Cys)	rs137854467
NM_000138.5(FBN1):c.5099A>G (p.Tyr1700Cys)	rs387906626
NM_000138.5(FBN1):c.510C>G (p.Tyr170Ter)	rs111671429
NM_000138.5(FBN1):c.5387G>T (p.Gly1796Val)	rs2043240309
NM_000138.5(FBN1):c.5959G>C (p.Gly1987Arg)	rs727504642
NM_000138.5(FBN1):c.640G>A (p.Gly214Ser)	rs794728162
NM_000138.5(FBN1):c.6453C>T (p.Cys2151=)	rs794728251

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.