ClinVar Miner

List of variants studied for Corpus callosum, agenesis of; Global developmental delay; Seizure; Aggressive behavior; Hypothyroidism; Stereotypic movement disorder; Abnormality of the dentition; Decreased response to growth hormone stimulation test

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 1

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter)	rs886041116

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.