List of variants studied for Lissencephaly 10 by Revvity Omics, Revvity

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 6

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001042475.3(CEP85L):c.34G>C (p.Gly12Arg)	rs1050048493	0.00001
NM_001042475.3(CEP85L):c.1103A>G (p.Glu368Gly)	rs2534124737
NM_001042475.3(CEP85L):c.1590+3A>T	rs1401607093
NM_001042475.3(CEP85L):c.1871_1874del (p.Asp624fs)	rs755513985
NM_001042475.3(CEP85L):c.2135T>C (p.Ile712Thr)	rs2533740355
NM_001042475.3(CEP85L):c.451del (p.Arg151fs)	rs2534375604

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.