ClinVar Miner

List of variants studied for X-linked syndromic intellectual disability by Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City

Included ClinVar conditions (168):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
Download table as spreadsheet
NM_000108.5(DLD):c.685G>T (p.Gly229Cys) rs121964990
NM_000489.5(ATRX):c.3535G>A (p.Val1179Ile) rs1569538665
NM_001081550.2(THOC2):c.133T>A (p.Phe45Ile) rs1569441509
NM_003688.3(CASK):c.2327_2328del (p.Asp776fs) rs1569288603
NM_004187.4(KDM5C):c.2114G>A (p.Arg705His) rs1569264240
NM_014467.3(SRPX2):c.560C>T (p.Pro187Leu) rs1569361725
NM_015185.3(ARHGEF9):c.311G>A (p.Arg104Gln) rs1556401714

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.