ClinVar Miner

List of variants reported as likely pathogenic for X-linked syndromic intellectual disability by Molecular Diagnostics Laboratory,M Health: University of Minnesota

Included ClinVar conditions (168):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
Download table as spreadsheet
HGVS dbSNP
NC_000023.11:g.(?_40052108)_(40077930_?)del
NM_000033.4(ABCD1):c.1165C>T (p.Arg389Cys) rs128624215
NM_000033.4(ABCD1):c.1186G>A (p.Ala396Thr) rs1569541006
NM_000033.4(ABCD1):c.1597A>C (p.Lys533Gln) rs781862879
NM_000033.4(ABCD1):c.1973C>T (p.Thr658Ile) rs1557055337
NM_000033.4(ABCD1):c.2010dup (p.Leu671fs) rs1569541207
NM_000033.4(ABCD1):c.487C>T (p.Arg163Cys) rs1569540695
NM_000033.4(ABCD1):c.593C>T (p.Thr198Met) rs1569540704
NM_000033.4(ABCD1):c.80A>C (p.Tyr27Ser) rs1569540665
NM_000033.4(ABCD1):c.823C>T (p.Arg275Trp) rs782083931
NM_000531.6(OTC):c.961T>C (p.Ser321Pro) rs1569281354
NM_032335.3(PHF6):c.65C>A (p.Ser22Ter) rs1569334260

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.