List of variants studied for juvenile-onset Parkinson disease by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 10

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_022089.4(ATP13A2):c.3192C>T (p.Ala1064=)	rs9435659	0.40884
NM_022089.4(ATP13A2):c.3516G>A (p.Pro1172=)	rs3170740	0.40860
NM_022089.4(ATP13A2):c.3084-3C>T	rs7531163	0.23688
NM_022089.4(ATP13A2):c.2790G>A (p.Ser930=)	rs3738815	0.20463
NM_022089.4(ATP13A2):c.1195+10G>A	rs55689004	0.00585
NM_022089.4(ATP13A2):c.132A>G (p.Pro44=)	rs200816691	0.00471
NM_022089.4(ATP13A2):c.*120A>T	rs41273151	0.00422
NM_022089.4(ATP13A2):c.1614C>T (p.Pro538=)	rs56351817	0.00324
NM_022089.4(ATP13A2):c.951C>T (p.Cys317=)	rs148391179	0.00091
NM_022089.4(ATP13A2):c.106-8G>A	rs200587951	0.00075

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.