ClinVar Miner

List of variants in gene AGBL3 reported by Breakthrough Genomics, Breakthrough Genomics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_178563.4(AGBL3):c.1655C>T (p.Thr552Met) rs117168663 0.00860
NM_178563.4(AGBL3):c.612C>T (p.His204=) rs74319573 0.00660
NM_178563.4(AGBL3):c.154C>T (p.Arg52Trp) rs186048202 0.00635
NM_178563.4(AGBL3):c.208C>T (p.Arg70Cys) rs117732894 0.00631
NM_178563.4(AGBL3):c.1995G>A (p.Gly665=) rs190310134 0.00250

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.