List of variants in gene NPHP1 reported as pathogenic for Joubert syndrome and related disorders

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

Total variants: 3

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NC_000002.11:g.(110881641_110883213)_(110962591_?)del
NC_000002.11:g.(?_110880924)_(110917833_110919179)del
NM_001128178.3(NPHP1):c.1551del (p.Ile517fs)	rs1017750255

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.