ClinVar Miner

List of variants reported as pathogenic for X-linked syndromic intellectual disability by HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology

Included ClinVar conditions (104):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001110792.2(MECP2):c.490C>G (p.Pro164Ala) rs179363900 0.00002
NM_000489.6(ATRX):c.536A>G (p.Asn179Ser) rs398123425
NM_001008537.3(NEXMIF):c.2999_3000del (p.Ser1000fs) rs875989829
NM_001015877.2(PHF6):c.1024C>T (p.Arg342Ter) rs132630297
NM_001356.5(DDX3X):c.619C>T (p.Gln207Ter) rs869312692
NM_001356.5(DDX3X):c.745G>T (p.Glu249Ter) rs752738546
NM_001367721.1(CASK):c.1997dup (p.Asn666fs) rs1602253464
NM_004187.5(KDM5C):c.3597_3601del (p.Leu1200fs) rs1131692227
NM_007363.5(NONO):c.1131G>A (p.Ala377=) rs869025343

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