ClinVar Miner

List of variants reported by Pediatric Diabetes Laboratory, Experimental and Clinical Research Center (ECRC)

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000281.4(PCBD1):c.289G>A (p.Glu97Lys) rs397518416 0.00001
NM_000281.4(PCBD1):c.210CAA[1] (p.Asn71del) rs397518415
NM_000281.4(PCBD1):c.46del (p.Leu16fs) rs397518414

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.