ClinVar Miner

List of variants reported as pathogenic for complex neurodevelopmental disorder by Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City

Included ClinVar conditions (297):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_177550.5(SLC13A5):c.655G>A (p.Gly219Arg) rs144332569 0.00009
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_002641.4(PIGA):c.1234C>T (p.Arg412Ter) rs387906726
NM_004974.4(KCNA2):c.1214C>T (p.Pro405Leu)
NM_004975.4(KCNB1):c.1528G>T (p.Gly510Ter) rs1601070652
NM_012479.4(YWHAG):c.394C>T (p.Arg132Cys) rs1554616628

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.