List of variants studied for basal ganglia disorder by Undiagnosed Diseases Network, NIH

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

Total variants: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_015836.4(WARS2):c.37T>G (p.Trp13Gly)	rs139548132	0.00360
NM_022089.4(ATP13A2):c.3057del (p.Tyr1020fs)	rs765632065	0.00007
NM_001257180.2(SLC20A2):c.136C>T (p.Gln46Ter)	rs751093906
NM_001257180.2(SLC20A2):c.1375G>T (p.Glu459Ter)	rs1563452941
NM_001257180.2(SLC20A2):c.1723G>T (p.Glu575Ter)	rs387906653
NM_001257180.2(SLC20A2):c.935-2A>G	rs1586025869
NM_002608.4(PDGFB):c.598C>T (p.Arg200Ter)	rs1932260742
NM_015836.4(WARS2):c.148G>T (p.Gly50Cys)	rs11552864
NM_022089.4(ATP13A2):c.1749+442_2251+512del

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.