ClinVar Miner

List of variants reported as likely pathogenic for X-linked intellectual disability by Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn

Included ClinVar conditions (151):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_012216.4(MID2):c.1432C>T (p.Arg478Ter) rs200917006 0.00002
NM_001110792.2(MECP2):c.1152_1155del (p.His384fs)
NM_001184880.2(PCDH19):c.2675+1G>T
NM_001367721.1(CASK):c.1837C>T (p.Arg613Ter) rs779508996
NM_001367721.1(CASK):c.356+1G>T rs2147736023
NM_002547.3(OPHN1):c.1356C>A (p.Tyr452Ter)
NM_004586.3(RPS6KA3):c.1022del (p.His341fs) rs2148664069
NM_007325.5(GRIA3):c.2098G>A (p.Glu700Lys) rs2045826576
NM_019597.5(HNRNPH2):c.613C>T (p.Gln205Ter)
NM_022101.4(STEEP1):c.79del (p.Leu27fs)
NM_024528.4(NKAP):c.989G>A (p.Arg330His) rs1603379780

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.