ClinVar Miner

List of variants in gene AGL reported as likely pathogenic by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000642.3(AGL):c.4459C>T (p.Arg1487Ter) rs12118058 0.00011
NM_000642.3(AGL):c.94C>T (p.Gln32Ter) rs786204489 0.00001
NM_000642.3(AGL):c.1405C>T (p.Arg469Ter) rs766536350
NM_000642.3(AGL):c.1437C>A (p.Tyr479Ter) rs140095668
NM_000642.3(AGL):c.214_215del (p.Glu72fs) rs754978531
NM_000642.3(AGL):c.2155C>T (p.Gln719Ter) rs1652018859
NM_000642.3(AGL):c.2433+1G>A rs2100768428
NM_000642.3(AGL):c.293+1del rs777857395
NM_000642.3(AGL):c.4422del (p.Ala1475fs) rs1286364615
NM_000642.3(AGL):c.535_538del (p.Leu179fs) rs794727706

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.