ClinVar Miner

List of variants studied for Larsen-like syndrome, B3GAT3 type by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004273.5(CHST3):c.1173C>A (p.Ile391=) rs115579748 0.00763
NM_004273.5(CHST3):c.108C>G (p.Val36=) rs77124584 0.00681
NM_012200.4(B3GAT3):c.554G>A (p.Gly185Glu) rs140755387 0.00102
NM_012200.4(B3GAT3):c.619-12G>A rs372473452 0.00001
NM_012200.4(B3GAT3):c.202C>T (p.Pro68Ser) rs200817074

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.