ClinVar Miner

List of variants reported as pathogenic for syndromic intellectual disability by Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)

Included ClinVar conditions (203):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001356.5(DDX3X):c.830_831del (p.Glu277fs) rs1602131859
NM_004380.3(CREBBP):c.6244C>T (p.Gln2082Ter) rs1057518789
NM_013275.6(ANKRD11):c.1381_1384del (p.Glu461fs) rs1597464953
NM_015100.4(POGZ):c.3259C>T (p.Arg1087Ter) rs879255404
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_052988.5(CDK10):c.139del (p.Glu47fs) rs1555516716

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.