ClinVar Miner

List of variants reported as likely pathogenic for syndromic intellectual disability by Institute of Human Genetics, Cologne University

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_001127178.3(PIGG):c.1A>G (p.Met1Val) rs1576983339
NM_001830.4(CLCN4):c.2043del (p.Glu682fs)
NM_003070.5(SMARCA2):c.2552A>G (p.Asp851Gly) rs886041045
NM_014927.5(CNKSR2):c.57G>A (p.Trp19Ter)
NM_015100.4(POGZ):c.1A>G (p.Met1Val) rs2102371063
NM_015570.4(AUTS2):c.2481_2484dup (p.Asp829Ter)

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.