ClinVar Miner

List of variants reported as pathogenic for RAB23-related Carpenter syndrome by OMIM

Included ClinVar conditions (1):

RAB23-related Carpenter syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_016277.5(RAB23):c.434T>A (p.Leu145Ter)	rs121908171	0.00037
NM_016277.5(RAB23):c.408dup (p.Glu137Ter)	rs1438138090	0.00001
NM_016277.5(RAB23):c.86dup (p.Tyr29Ter)	rs1593223800

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.