List of variants reported as uncertain significance for basal ganglia disorder by Mendelics

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: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_198578.4(LRRK2):c.1000G>A (p.Glu334Lys)	rs78501232	0.00266
NM_198578.4(LRRK2):c.2378G>T (p.Arg793Met)	rs35173587	0.00085
NM_198578.4(LRRK2):c.5606T>C (p.Met1869Thr)	rs35602796	0.00060
NM_198578.4(LRRK2):c.7153G>A (p.Gly2385Arg)	rs34778348	0.00058
NM_198578.4(LRRK2):c.6566A>G (p.Tyr2189Cys)	rs35658131	0.00055
NM_198578.4(LRRK2):c.7067C>T (p.Thr2356Ile)	rs113511708	0.00025
NM_198578.4(LRRK2):c.5822G>A (p.Arg1941His)	rs77428810	0.00022
NM_198578.4(LRRK2):c.632C>T (p.Ala211Val)	rs112794616	0.00011
NM_022089.4(ATP13A2):c.1749+2T>G	rs74058364
NM_152296.5(ATP1A3):c.108G>A (p.Met36Ile)	rs1599725994
NM_198578.4(LRRK2):c.4883G>A (p.Arg1628His)	rs33949390

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.