ClinVar Miner

List of variants in gene SLC6A1 reported by Institute of Human Genetics, University of Leipzig Medical Center

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003042.4(SLC6A1):c.1070C>A (p.Ala357Glu) rs1553689859
NM_003042.4(SLC6A1):c.1084G>A (p.Gly362Arg) rs1131691302
NM_003042.4(SLC6A1):c.1191+1G>A rs2124930966
NM_003042.4(SLC6A1):c.1307T>A (p.Leu436His) rs2124932154
NM_003042.4(SLC6A1):c.1648G>A (p.Gly550Arg) rs886042046
NM_003042.4(SLC6A1):c.182C>T (p.Ala61Val) rs2124905520
NM_003042.4(SLC6A1):c.336del (p.Gly112_Leu113insTer)
NM_003042.4(SLC6A1):c.362del (p.Met121fs)
NM_003042.4(SLC6A1):c.583C>A (p.Arg195Ser) rs769934894
NM_003042.4(SLC6A1):c.622G>C (p.Gly208Arg) rs1697440696
NM_003042.4(SLC6A1):c.866C>T (p.Ala289Val) rs1697597168
NM_003042.4(SLC6A1):c.888C>G (p.Tyr296Ter)
NM_003042.4(SLC6A1):c.913G>A (p.Ala305Thr) rs1391625316
NM_003042.4(SLC6A1):c.919G>A (p.Gly307Arg) rs1553689696
NM_003042.4(SLC6A1):c.953G>T (p.Arg318Met)

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.