ClinVar Miner

List of variants reported as pathogenic for X-linked intellectual disability by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (156):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 24
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NC_000023.10:g.(119681095_119691778)_(119694481_119708405)del
NC_000023.10:g.(12157132_12516798)_(12704324_12708313)del
NC_000023.10:g.(?_153287263)_(153363189_?)dup
NM_000489.6(ATRX):c.1727C>A (p.Ser576Ter) rs2071372283
NM_000489.6(ATRX):c.1933dup (p.Ser645fs)
NM_000489.6(ATRX):c.736C>T (p.Arg246Cys) rs122445105
NM_001032382.2(PQBP1):c.461_462del (p.Glu154fs) rs606231193
NM_001111125.3(IQSEC2):c.2563C>T (p.Arg855Ter) rs587777261
NM_001184880.2(PCDH19):c.986_987del (p.His329fs) rs2520987307
NM_001272071.2(AP1S2):c.319del (p.Glu107fs) rs2519914351
NM_001356.5(DDX3X):c.1535_1536del (p.His512fs) rs796052230
NM_001367721.1(CASK):c.2041C>T (p.Arg681Ter) rs587783360
NM_004187.5(KDM5C):c.1439C>T (p.Pro480Leu) rs1057518697
NM_004586.3(RPS6KA3):c.1894C>T (p.Arg632Ter) rs1085307639
NM_004595.5(SMS):c.335C>T (p.Pro112Leu) rs2147517480
NM_005765.3(ATP6AP2):c.284C>A (p.Ser95Ter)
NM_006517.5(SLC16A2):c.25G>T (p.Glu9Ter) rs933036653
NM_006517.5(SLC16A2):c.604G>A (p.Gly202Arg) rs794727509
NM_006517.5(SLC16A2):c.653_660del (p.Val218fs)
NM_012280.4(FTSJ1):c.655G>A (p.Asp219Asn) rs2519393316
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp) rs886039763
NM_021120.4(DLG3):c.2266C>T (p.Arg756Ter) rs2147892965
NM_031407.7(HUWE1):c.329G>A (p.Arg110Gln) rs1557036768
NM_139058.3(ARX):c.306GGC[17] (p.Ala109_Ala115dup) rs387906492

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.