ClinVar Miner

List of variants in gene CHD8 reported by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001170629.2(CHD8):c.1093C>T (p.Gln365Ter) rs746163664
NM_001170629.2(CHD8):c.1717-21dup
NM_001170629.2(CHD8):c.2611A>G (p.Ile871Val)
NM_001170629.2(CHD8):c.28G>A (p.Asp10Asn)
NM_001170629.2(CHD8):c.3454G>A (p.Val1152Ile) rs1888123647
NM_001170629.2(CHD8):c.416C>G (p.Ser139Cys) rs1889549675
NM_001170629.2(CHD8):c.4780G>A (p.Asp1594Asn)
NM_001170629.2(CHD8):c.5052-18G>A
NM_001170629.2(CHD8):c.7112dup (p.Asn2371fs) rs751094013
NM_001170629.2(CHD8):c.7256C>A (p.Ala2419Asp)
NM_001170629.2(CHD8):c.7317del (p.Ser2440fs)

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.