ClinVar Miner

List of variants reported as pathogenic for X-linked syndromic intellectual disability by Undiagnosed Diseases Network,NIH

Included ClinVar conditions (163):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NC_000023.10:g.64171841_64267316del95476
NC_000023.11:g.154030554_154031128del575
NM_003159.2(CDKL5):c.2713+129C>T rs1555955296
NM_004992.3(MECP2):c.1157_1197del41 (p.Leu386Hisfs) rs267608327
NM_004992.3(MECP2):c.316C>T (p.Arg106Trp) rs28934907
NM_005249.4(FOXG1):c.624C>A (p.Tyr208Ter) rs267606826
NM_031407.7(HUWE1):c.329G>A (p.Arg110Gln) rs1557036768
NR_023343.1(RNU4ATAC):n.13C>T rs559979281

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