ClinVar Miner

List of variants studied for X-linked syndromic intellectual disability by Service de Génétique Moléculaire, Hôpital Robert Debré

Included ClinVar conditions (104):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001032382.2(PQBP1):c.508C>T (p.Arg170Trp) rs781986555 0.00001
NM_001079872.2(CUL4B):c.95C>T (p.Pro32Leu) rs869320682 0.00001
NM_000489.6(ATRX):c.1916T>G (p.Leu639Trp)
NM_001032382.2(PQBP1):c.586C>T (p.Arg196Ter) rs1557041672
NM_001032382.2(PQBP1):c.727C>T (p.Arg243Trp) rs2063451959
NM_001079872.2(CUL4B):c.921_923delinsACC (p.Trp307_Asp308delinsTer)
NM_001110556.2(FLNA):c.5621G>C (p.Gly1874Ala)
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001353921.2(ARHGEF9):c.1469C>T (p.Pro490Leu)
NM_001356.5(DDX3X):c.1574A>G (p.Tyr525Cys)
NM_001356.5(DDX3X):c.596G>A (p.Arg199His)
NM_001367721.1(CASK):c.1256del (p.Tyr419fs)
NM_001367721.1(CASK):c.2039+1del
NM_001367721.1(CASK):c.2041C>T (p.Arg681Ter) rs587783360
NM_001367721.1(CASK):c.2608del (p.Glu870fs)
NM_001830.4(CLCN4):c.130G>A (p.Asp44Asn)
NM_004187.5(KDM5C):c.1795C>T (p.Arg599Cys)
NM_080632.3(UPF3B):c.646_647del (p.Glu216fs)

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.