ClinVar Miner

List of variants reported as uncertain significance by DST/NWU Preclinical Drug Development Platform, North-West University

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000157.4(GBA1):c.1223C>T (p.Thr408Met) rs75548401 0.00627
NM_000157.4(GBA1):c.1220T>C (p.Ile407Thr) rs1057519358
NM_000157.4(GBA1):c.1277C>T (p.Pro426Leu) rs1057519357
NM_000157.4(GBA1):c.1440G>C (p.Lys480Asn) rs1057519356
NM_000157.4(GBA1):c.221G>C (p.Gly74Ala) rs371592589

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.