ClinVar Miner

List of variants in gene BLOC1S3 reported as pathogenic for Hermansky-Pudlak syndrome 8

Included ClinVar conditions (1):
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_212550.5(BLOC1S3):c.131C>A (p.Ser44Ter) rs281865115 0.00003
NM_212550.5(BLOC1S3):c.338_341del (p.Leu113fs) rs1568469902
NM_212550.5(BLOC1S3):c.385_403del (p.Ser129fs) rs1969482515
NM_212550.5(BLOC1S3):c.444_467del (p.Gln150_Ala157del) rs754841982
NM_212550.5(BLOC1S3):c.448del (p.Gln150fs) rs281865116

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.