ClinVar Miner

List of variants reported as likely pathogenic for Joubert syndrome 1 by UW Hindbrain Malformation Research Program,University of Washington

Included ClinVar conditions (10):

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

Total variants: 4

Download table as spreadsheet

HGVS	dbSNP
NM_001165927.1(MKS1):c.1359G>T (p.Arg453=)	rs773269657
NM_001165927.1(MKS1):c.463C>T (p.Arg155Cys)	rs779953982
NM_006346.4(PIBF1):c.1214G>A (p.Arg405Gln)	rs17089782
NM_006346.4(PIBF1):c.1669del (p.Leu557fs)	rs863225214

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.