ClinVar Miner

List of variants reported as likely pathogenic for X-linked syndromic intellectual disability by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

Included ClinVar conditions (104):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000489.6(ATRX):c.536A>G (p.Asn179Ser) rs398123425
NM_000489.6(ATRX):c.6254G>T (p.Arg2085Leu) rs1057517948
NM_001032382.2(PQBP1):c.586C>T (p.Arg196Ter) rs1557041672
NM_001081550.2(THOC2):c.2087C>T (p.Thr696Ile) rs1556024875
NM_001356.5(DDX3X):c.1582C>T (p.Arg528Cys) rs1064795323
NM_001356.5(DDX3X):c.173C>G (p.Ser58Ter) rs1602126980
NM_001356.5(DDX3X):c.599A>G (p.Tyr200Cys)
NM_001367721.1(CASK):c.1910G>A (p.Gly637Asp) rs1569302194
NM_001367721.1(CASK):c.2074C>T (p.Gln692Ter) rs587783361
NM_001367721.1(CASK):c.764G>A (p.Arg255His) rs587783369
NM_002547.3(OPHN1):c.1450_1453dup (p.Ile485fs)
NM_004187.5(KDM5C):c.255C>G (p.Tyr85Ter) rs1602231587

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