ClinVar Miner

List of variants reported as uncertain significance for Toriello-Lacassie-Droste syndrome by OMIM

Included ClinVar conditions (1):

Oculoectodermal syndrome

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

Total variants: 3

Download table as spreadsheet

HGVS	dbSNP
NM_015041.3(CLUAP1):c.817C>T (p.Leu273Phe)	rs751218423
NM_153447.4(NLRP5):c.2353C>T (p.Gln785Ter)	rs200446614
NM_153447.4(NLRP5):c.2840T>C (p.Leu947Pro)	rs202181446

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.