ClinVar Miner

List of variants studied for X-linked syndromic intellectual disability by Center for Human Genetics,University of Leuven

Included ClinVar conditions (168):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
Download table as spreadsheet
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001356.4(DDX3X):c.577G>T (p.Gly193Ter) rs875989803
NM_001356.4(DDX3X):c.904G>A (p.Gly302Ser) rs875989802
NM_016937.3(POLA1):c.445_507del (p.Lys149_Glu169del) rs1569277866
NM_016937.4(POLA1):c.236T>G (p.Ile79Ser) rs1569271378
NM_016937.4(POLA1):c.328G>A (p.Gly110Arg) rs1569271892
NM_016937.4(POLA1):c.4142C>T (p.Pro1381Leu) rs1569350993
NM_016937.4(POLA1):c.507+1G>A rs1569277899
NM_198270.4(NHS):c.694C>T (p.Gln232Ter) rs875989805

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.