List of variants in gene CEP41 reported by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 16

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_018718.3(CEP41):c.718T>G (p.Cys240Gly)	rs113941736	0.00760
NM_018718.3(CEP41):c.423-293G>A	rs192743446	0.00725
NM_018718.3(CEP41):c.208-5A>G	rs11765434	0.00453
NM_018718.2(CEP41):c.-243G>A	rs542293061	0.00425
NM_018718.3(CEP41):c.*593G>A	rs186685101	0.00290
NM_018718.3(CEP41):c.1009T>C (p.Ser337Pro)	rs147444165	0.00223
NM_018718.3(CEP41):c.*1974A>G	rs185337247	0.00220
NM_018718.3(CEP41):c.616C>G (p.Pro206Ala)	rs143303575	0.00218
NM_018718.3(CEP41):c.988G>C (p.Ala330Pro)	rs368525533	0.00025
NM_018718.3(CEP41):c.1059C>T (p.Pro353=)	rs782301750	0.00003
NM_018718.3(CEP41):c.851G>A (p.Arg284Gln)	rs782105300	0.00003
NM_018718.3(CEP41):c.753C>T (p.Ser251=)	rs200612684	0.00001
NM_018718.2(CEP41):c.-178C>A	rs10230670
NM_018718.3(CEP41):c.1373_1384del
NM_018718.3(CEP41):c.34-5949C>A
NM_018718.3(CEP41):c.98-5025T>C

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.