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 (168):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP
NM_000266.4(NDP):c.220C>T (p.Arg74Cys) rs727504031
NM_000489.5(ATRX):c.536A>G (p.Asn179Ser) rs398123425
NM_001008537.3(NEXMIF):c.2995_2996CT[2] (p.Ser1000fs) rs875989829
NM_001015877.2(PHF6):c.1024C>T (p.Arg342Ter) rs132630297
NM_001356.4(DDX3X):c.619C>T (p.Gln207Ter) rs869312692
NM_001356.4(DDX3X):c.745G>T (p.Glu249Ter) rs752738546
NM_004187.4(KDM5C):c.3597_3601del (p.Leu1200fs) rs1131692227
NM_004992.3(MECP2):c.1157_1197del (p.Leu386fs) rs267608327
NM_004992.3(MECP2):c.27-6C>G rs267608411
NM_004992.3(MECP2):c.502C>T (p.Arg168Ter) rs61748421
NM_005249.5(FOXG1):c.460del (p.Glu154fs) rs398124204
NM_005249.5(FOXG1):c.821G>A (p.Arg274Gln) rs869312700
NM_018684.4(ZC4H2):c.412C>T (p.Gln138Ter)

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