List of variants in gene FBN1, LOC130057020 studied for Stiff skin syndrome

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: 7

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000138.5(FBN1):c.-176A>T	rs560004254	0.00145
NM_000138.5(FBN1):c.-136G>C	rs879283668	0.00027
NM_000138.5(FBN1):c.-123C>A	rs1004900313	0.00005
NM_000138.5(FBN1):c.-98G>T	rs886051254	0.00003
NM_000138.5(FBN1):c.-108G>A	rs1029606067
NM_000138.5(FBN1):c.-132A>C	rs886051255
NM_000138.5(FBN1):c.-70C>A	rs886051253

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.