List of variants in gene SLC18A2 studied for basal ganglia disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_003054.6(SLC18A2):c.-15-39A>C	rs2619094	0.94938
NM_003054.6(SLC18A2):c.700+15C>T	rs2072362	0.90152
NM_003054.6(SLC18A2):c.791-42C>A	rs363343	0.74530
NM_003054.6(SLC18A2):c.1160C>T (p.Pro387Leu)	rs1392638187
NM_003054.6(SLC18A2):c.1196A>C (p.Asp399Ala)
NM_003054.6(SLC18A2):c.1306+43G>A	rs363272
NM_003054.6(SLC18A2):c.216dup (p.Asp73fs)
NM_003054.6(SLC18A2):c.240_244del (p.Ser80_Tyr81insTer)
NM_003054.6(SLC18A2):c.33G>A (p.Trp11Ter)	rs2133723906
NM_003054.6(SLC18A2):c.590C>T (p.Ser197Phe)
NM_003054.6(SLC18A2):c.710C>A (p.Pro237His)	rs767337086
NM_003054.6(SLC18A2):c.946C>G (p.Pro316Ala)	rs1589981178

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.