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

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_001032382.2(PQBP1):c.461_462dup (p.Arg155fs)	rs606231193
NM_001079872.2(CUL4B):c.1682_1683del (p.Thr561fs)	rs1057519396
NM_001110792.2(MECP2):c.1147dup (p.His383fs)	rs1057519404
NM_001184880.2(PCDH19):c.2341dup (p.Ile781fs)	rs1060502175
NM_001356.5(DDX3X):c.1448C>A (p.Ala483Asp)	rs2063923749
NM_001356.5(DDX3X):c.651_652del (p.Asp219fs)	rs2063876393
NM_001356.5(DDX3X):c.674A>G (p.Gln225Arg)	rs2063876594
NM_001356.5(DDX3X):c.874C>T (p.Arg292Ter)	rs1555953488
NM_004187.5(KDM5C):c.156G>T (p.Trp52Cys)	rs886037836
NM_004187.5(KDM5C):c.2622+2dup	rs1057519393
NM_007363.5(NONO):c.201_202dup (p.Lys68fs)	rs2148033408
NM_007363.5(NONO):c.279_282del (p.Phe94fs)	rs2148033495
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp)	rs886039763

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