ClinVar Miner

List of variants studied for Pitt-Hopkins-like syndrome by Athena Diagnostics Inc

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
Download table as spreadsheet
NM_014141.6(CNTNAP2):c.1659G>A (p.Ala553=) rs34592169
NM_014141.6(CNTNAP2):c.1777+10A>G rs2286127
NM_014141.6(CNTNAP2):c.2280A>G (p.Ser760=) rs10240503
NM_014141.6(CNTNAP2):c.3248-4A>G rs3779031
NM_014141.6(CNTNAP2):c.3716-17TCTT[3] rs142426153
NM_014141.6(CNTNAP2):c.3716-6C>G rs77025884
NM_014141.6(CNTNAP2):c.3723G>A (p.Ala1241=) rs9648691

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.