ClinVar Miner

List of variants reported as likely pathogenic for X-linked intellectual disability-epilepsy syndrome by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001184880.2(PCDH19):c.695A>G (p.Asn232Ser) rs587784299 0.00001
NM_001184880.2(PCDH19):c.274dup (p.Leu92fs) rs2147542293
NM_001184880.2(PCDH19):c.3057dup (p.Lys1020fs) rs1924620442
NM_001184880.2(PCDH19):c.445C>G (p.Pro149Ala) rs1928459143
NM_001184880.2:c.(2147+1_2148-1)_(2616+1_2617-1)del
NM_001353921.2(ARHGEF9):c.419G>A (p.Cys140Tyr)

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.