List of variants in gene CHRNE 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: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000080.4(CHRNE):c.*6A>G	rs55806270	0.00487
NM_000080.4(CHRNE):c.1220-5G>A	rs188564977	0.00287
NM_000080.4(CHRNE):c.1019C>T (p.Pro340Leu)	rs139922367
NM_000080.4(CHRNE):c.1220-1G>C	rs373710822
NM_000080.4(CHRNE):c.1252_1267dup (p.Cys423fs)	rs1597613479
NM_000080.4(CHRNE):c.1255G>T (p.Glu419Ter)	rs754975887
NM_000080.4(CHRNE):c.1319_1326+15del	rs1208462125
NM_000080.4(CHRNE):c.1404G>A (p.Val468=)
NM_000080.4(CHRNE):c.1480_*48delinsC (p.Ter494LeuextTer?)	rs1555546038

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.