List of variants in gene FBLN5 reported as benign for Charcot-Marie-Tooth disease

Minimum submission review status:		Collection method:
Minimum conflict level:
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
NM_006329.3(FBLN5):c.*326G>A	rs79375113
NM_006329.3(FBLN5):c.*329T>C	rs115237925
NM_006329.3(FBLN5):c.*514A>G	rs17804735
NM_006329.3(FBLN5):c.*623A>T	rs77357345
NM_006329.3(FBLN5):c.-152C>T	rs139387007
NM_006329.3(FBLN5):c.-414C>T	rs7149187
NM_006329.3(FBLN5):c.-458G>A	rs369441736
NM_006329.3(FBLN5):c.1122C>T (p.Tyr374=)	rs145515678
NM_006329.3(FBLN5):c.502+15G>C	rs190933127
NM_006329.3(FBLN5):c.863-13C>T	rs74071606
NM_006329.3(FBLN5):c.945T>C (p.Ile315=)	rs2430347
NM_006329.3(FBLN5):c.989+13G>A	rs74071605

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.