ClinVar Miner

List of variants reported for Intellectual developmental disorder with autism and macrocephaly by Fulgent Genetics, Fulgent Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001170629.2(CHD8):c.4809G>A (p.Ala1603=) rs61736703 0.00383
NM_001170629.2(CHD8):c.2907+12A>T rs200189975 0.00186
NM_001170629.2(CHD8):c.6119A>G (p.Asp2040Gly) rs148494847 0.00048
NM_001170629.2(CHD8):c.5402G>A (p.Arg1801His) rs201604061 0.00036
NM_001170629.2(CHD8):c.5372G>A (p.Arg1791Gln) rs370298280 0.00001
NM_001170629.2(CHD8):c.3882+1G>A rs1555314736
NM_001170629.2(CHD8):c.5659C>G (p.Leu1887Val) rs369825360

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.