ClinVar Miner

List of variants in gene CHD8 reported as pathogenic for autism spectrum disorder

Included ClinVar conditions (38):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
Download table as spreadsheet
HGVS dbSNP
NM_001170629.2(CHD8):c.2345del (p.His782fs) rs886039692
NM_001170629.2(CHD8):c.2854C>T (p.Arg952Ter) rs1131691548
NM_001170629.2(CHD8):c.4378C>T (p.Arg1460Ter) rs1454466097
NM_001170629.2(CHD8):c.5607dup (p.Asp1870fs) rs774152851
NM_001170629.2(CHD8):c.727C>T (p.Arg243Ter)

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.