List of variants reported as uncertain significance for Atelosteogenesis type I

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

Total variants: 8

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001457.4(FLNB):c.906+3A>G	rs750429255	0.00004
NM_001457.4(FLNB):c.776C>T (p.Ala259Val)	rs376619286	0.00003
NM_001457.4(FLNB):c.3616A>G (p.Met1206Val)	rs756396172	0.00001
NM_001457.4(FLNB):c.1864T>C (p.Cys622Arg)
NM_001457.4(FLNB):c.4585T>C (p.Ser1529Pro)	rs770433500
NM_001457.4(FLNB):c.4805C>A (p.Ser1602Tyr)	rs2107224888
NM_001457.4(FLNB):c.5524T>C (p.Phe1842Leu)	rs1178860596
NM_001457.4(FLNB):c.6643A>G (p.Ser2215Gly)	rs2097350829

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.