List of variants in gene SLC6A8 reported as uncertain significance for Inborn genetic diseases

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: 17

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_005629.4(SLC6A8):c.1570T>A (p.Ser524Thr)	rs782703394	0.00010
NM_005629.4(SLC6A8):c.421G>A (p.Val141Ile)	rs1557044413	0.00002
NM_005629.4(SLC6A8):c.1319G>A (p.Arg440His)	rs781925657	0.00001
NM_005629.4(SLC6A8):c.54G>C (p.Lys18Asn)	rs1261794545	0.00001
NM_005629.4(SLC6A8):c.89C>T (p.Ala30Val)	rs782598816	0.00001
NM_005629.4(SLC6A8):c.1127A>C (p.Lys376Thr)
NM_005629.4(SLC6A8):c.1171C>T (p.Arg391Trp)	rs1557045267
NM_005629.4(SLC6A8):c.1297C>T (p.Leu433Phe)	rs1569539421
NM_005629.4(SLC6A8):c.1654G>A (p.Val552Met)
NM_005629.4(SLC6A8):c.1763C>T (p.Ala588Val)
NM_005629.4(SLC6A8):c.1906T>G (p.Ter636Gly)
NM_005629.4(SLC6A8):c.190T>C (p.Ser64Pro)	rs1557043854
NM_005629.4(SLC6A8):c.370T>C (p.Trp124Arg)
NM_005629.4(SLC6A8):c.611_612delinsAC (p.Ala204Asp)	rs1569539288
NM_005629.4(SLC6A8):c.803C>A (p.Pro268His)	rs2091465921
NM_005629.4(SLC6A8):c.874T>C (p.Tyr292His)	rs2148362804
NM_005629.4(SLC6A8):c.94G>A (p.Ala32Thr)

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.