ClinVar Miner

List of variants in gene PSMB8 reported as benign for Nakajo-Nishimura syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP
NM_004159.5(PSMB8):c.180C>T (p.Asn60=) rs79482999
NM_004159.5(PSMB8):c.208A>T (p.Thr70Ser) rs17220206
NM_004159.5(PSMB8):c.210C>A (p.Thr70=) rs116638337
NM_004159.5(PSMB8):c.395+6C>T rs9276810
NM_004159.5(PSMB8):c.471G>A (p.Gln157=) rs41270492
NM_004159.5(PSMB8):c.489C>T (p.Leu163=) rs11540143
NM_004159.5(PSMB8):c.720C>T (p.Gly240=) rs78909544
NM_148919.4(PSMB8):c.22G>A (p.Gly8Arg) rs114772012

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.