ClinVar Miner

List of variants reported as pathogenic for X-linked syndromic intellectual disability by Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris

Included ClinVar conditions (212):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
Download table as spreadsheet
HGVS dbSNP
NM_000194.3(HPRT1):c.47G>T (p.Gly16Val) rs1135401801
NM_000489.5(ATRX):c.4865C>T (p.Ala1622Val) rs1135401793
NM_001353921.2(ARHGEF9):c.886C>T (p.Arg296Ter) rs1135401795
NM_004187.5(KDM5C):c.2482C>T (p.Arg828Ter) rs1135401800
NM_004595.5(SMS):c.908_911del (p.Met303fs) rs1602220706
NM_007325.5(GRIA3):c.1964T>C (p.Phe655Ser) rs1135401788

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.