List of variants in gene FA2H reported as likely benign for Hereditary spastic paraplegia 35

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: 10

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_024306.5(FA2H):c.289C>G (p.Pro97Ala)	rs35874850	0.02064
NM_024306.5(FA2H):c.*520G>A	rs187456324	0.00503
NM_024306.5(FA2H):c.*958C>T	rs115575599	0.00401
NM_024306.5(FA2H):c.*821C>G	rs573058036	0.00283
NM_024306.5(FA2H):c.1113G>C (p.Thr371=)	rs140017632	0.00191
NM_024306.5(FA2H):c.1087A>C (p.Thr363Pro)	rs200545714	0.00152
NM_024306.5(FA2H):c.*813C>T	rs568964501	0.00087
NM_024306.5(FA2H):c.*783G>A	rs150692675	0.00022
NM_024306.5(FA2H):c.844G>A (p.Gly282Ser)	rs199815871	0.00010
NM_024306.5(FA2H):c.771C>T (p.His257=)	rs371293493	0.00002

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.