ClinVar Miner

List of variants reported as pathogenic for X-linked syndromic intellectual disability by Centre de Biologie Pathologie Génétique,Centre Hospitalier Universitaire de Lille

Included ClinVar conditions (168):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_001042537.1(SLC9A6):c.882del (p.Ala295fs) rs1057519394
NM_001042537:c.916delC
NM_003588.3(CUL4B):c.1736_1737del (p.Thr579fs) rs1057519396
NM_004187.4(KDM5C):c.156G>T (p.Trp52Cys) rs886037836
NM_004187.4(KDM5C):c.2622+2dup rs1057519393
NM_004992.3(MECP2):c.1111dup (p.His371fs) rs1057519404

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