List of variants in gene CEP78 reported as likely pathogenic for not provided

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: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001330691.3(CEP78):c.491G>A (p.Gly164Asp)	rs200752089	0.00012
NM_001330691.3(CEP78):c.1424del (p.Val475fs)	rs1196886096	0.00001
NM_001330691.3(CEP78):c.323T>G (p.Leu108Trp)	rs1042726781	0.00001
NM_001330691.3(CEP78):c.449T>C (p.Leu150Ser)	rs761661253	0.00001
NM_001330691.3(CEP78):c.966G>A (p.Trp322Ter)	rs1322721879	0.00001
NM_001330691.3(CEP78):c.1070-5A>G	rs1014151821
NM_001330691.3(CEP78):c.1205+2T>A
NM_001330691.3(CEP78):c.401_404del (p.Glu134fs)	rs1273366435
NM_001330691.3(CEP78):c.440C>T (p.Ser147Leu)	rs759754640
NM_001330691.3(CEP78):c.473G>T (p.Cys158Phe)	rs754595005
NM_001330691.3(CEP78):c.778+1G>A	rs1826338661
NM_001330691.3(CEP78):c.827del (p.Leu276fs)	rs2118219355
NM_001330691.3(CEP78):c.892+1G>A
NM_001330691.3(CEP78):c.892+2T>A

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.