List of variants reported as benign for Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 by Genome-Nilou Lab

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: 7

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_016529.6(ATP8A2):c.2286G>C (p.Leu762=)	rs6491088	0.99194
NM_016529.6(ATP8A2):c.3184-88G>A	rs9511998	0.98717
NM_016529.6(ATP8A2):c.2384+55C>T	rs2296003	0.86506
NM_016529.6(ATP8A2):c.1683C>T (p.Phe561=)	rs6491066	0.68336
NM_016529.6(ATP8A2):c.1185+71A>G	rs7332442	0.65665
NM_016529.6(ATP8A2):c.2008-4G>C	rs7335339	0.61047
NM_016529.6(ATP8A2):c.3183+95C>T	rs2249800	0.52080

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.