ClinVar Miner

List of variants in gene CCDC12, NBEAL2 studied for Gray platelet syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_015175.3(NBEAL2):c.-178G>A rs892777590 0.00006
NM_015175.3(NBEAL2):c.-76G>A rs886058588 0.00004
NM_015175.3(NBEAL2):c.-162C>T rs886058587 0.00001
NM_015175.3(NBEAL2):c.-120C>G rs1011004600
NM_015175.3(NBEAL2):c.-14_-9dup rs764010884
NM_015175.3(NBEAL2):c.51+11C>T rs886058590

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.