List of variants in gene NEK8 reported as pathogenic by OMIM

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: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_178170.3(NEK8):c.1043C>T (p.Thr348Met)	rs376531637	0.00009
NM_178170.3(NEK8):c.1795C>T (p.Arg599Ter)	rs375661404	0.00007
NM_178170.3(NEK8):c.1804C>T (p.Arg602Trp)	rs773883764	0.00005
NM_178170.3(NEK8):c.379C>T (p.Arg127Ter)	rs752792782	0.00002
NM_178170.3(NEK8):c.1273C>T (p.His425Tyr)	rs118204032
NM_178170.3(NEK8):c.1384C>T (p.Arg462Ter)	rs770284675
NM_178170.3(NEK8):c.1401G>A (p.Trp467Ter)	rs762826555
NM_178170.3(NEK8):c.1738G>A (p.Gly580Ser)	rs751440831
NM_178170.3(NEK8):c.2076dup (p.Ter693LeuextTer?)	rs755820155
NM_178170.3(NEK8):c.259A>G (p.Thr87Ala)	rs1555563787
NM_178170.3(NEK8):c.47+1G>A	rs1367268677

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.