List of variants in gene SLC6A3 reported as likely benign for SLC6A3-related dopamine transporter deficiency syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001044.5(SLC6A3):c.114C>T (p.Asn38=)	rs6350	0.05616
NM_001044.5(SLC6A3):c.162C>T (p.Pro54=)	rs6351	0.00589
NM_001044.5(SLC6A3):c.546C>T (p.Asn182=)	rs28364996	0.00396
NM_001044.5(SLC6A3):c.60G>A (p.Glu20=)	rs115160598	0.00057
NM_001044.5(SLC6A3):c.1470C>T (p.Ile490=)	rs8179034	0.00039
NM_001044.5(SLC6A3):c.1767+13A>G	rs28363130	0.00026
NM_001044.5(SLC6A3):c.1143C>T (p.Asp381=)	rs8179027	0.00022
NM_001044.5(SLC6A3):c.1677G>A (p.Ala559=)	rs767241571

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.