List of variants in gene FBN1 studied for Inborn genetic diseases

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: 15

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000138.5(FBN1):c.8071G>A (p.Gly2691Ser)	rs145105768	0.00006
NM_000138.5(FBN1):c.1653C>T (p.Gly551=)	rs766565738	0.00001
NM_000138.5(FBN1):c.3463G>A (p.Asp1155Asn)	rs794728204	0.00001
NM_000138.5(FBN1):c.4057G>A (p.Gly1353Arg)	rs187177496	0.00001
NM_000138.5(FBN1):c.6724C>T (p.Arg2242Cys)	rs779749926	0.00001
NM_000138.5(FBN1):c.1238_1239insAG (p.Pro414fs)	rs2043800325
NM_000138.5(FBN1):c.438dup (p.Gln147fs)
NM_000138.5(FBN1):c.5284G>A (p.Gly1762Ser)	rs387906623
NM_000138.5(FBN1):c.5999G>A (p.Cys2000Tyr)	rs1555395645
NM_000138.5(FBN1):c.659C>T (p.Pro220Leu)	rs1555401681
NM_000138.5(FBN1):c.6658C>T (p.Arg2220Ter)	rs113001196
NM_000138.5(FBN1):c.6694T>C (p.Cys2232Arg)	rs869025411
NM_000138.5(FBN1):c.6697C>T (p.Pro2233Ser)	rs794728255
NM_000138.5(FBN1):c.7006G>T (p.Glu2336Ter)	rs1199524458
NM_000138.5(FBN1):c.8206dup (p.Thr2736fs)	rs1555393647

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.