ClinVar Miner

List of variants in gene SLC6A1 reported as likely benign by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003042.4(SLC6A1):c.-17C>T rs41362845 0.00252
NM_003042.4(SLC6A1):c.912C>T (p.Ile304=) rs35450949 0.00159
NM_003042.4(SLC6A1):c.801C>T (p.Gly267=) rs150519659 0.00058
NM_003042.4(SLC6A1):c.-5G>A rs200451145 0.00024
NM_003042.4(SLC6A1):c.1044C>T (p.Val348=) rs144666962 0.00021
NM_003042.4(SLC6A1):c.480G>T (p.Pro160=) rs116620331 0.00021
NM_003042.4(SLC6A1):c.1008C>T (p.Phe336=) rs144261418 0.00009
NM_003042.4(SLC6A1):c.384G>A (p.Ala128=) rs2272404 0.00004
NM_003042.4(SLC6A1):c.999C>T (p.Phe333=) rs138166453 0.00002
NM_003042.4(SLC6A1):c.1083C>T (p.Pro361=) rs768964697 0.00001
NM_003042.4(SLC6A1):c.798G>A (p.Glu266=) rs1211147356 0.00001
NM_003042.4(SLC6A1):c.828C>T (p.Phe276=) rs1176975543 0.00001
NM_003042.4(SLC6A1):c.1113G>A (p.Ala371=)
NM_003042.4(SLC6A1):c.1563A>G (p.Pro521=)
NM_003042.4(SLC6A1):c.471+78C>G
NM_003042.4(SLC6A1):c.493G>A (p.Asp165Asn) rs748779390
NM_003042.4(SLC6A1):c.651G>A (p.Thr217=) rs6344
NM_003042.4(SLC6A1):c.660C>A (p.Ile220=) rs760984163
NM_003042.4(SLC6A1):c.864G>C (p.Ala288=)

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.