List of variants reported as pathogenic for syndromic intellectual disability by Laboratoire de Génétique Moléculaire, CHU Bordeaux

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_006565.4(CTCF):c.1103G>A (p.Arg368His)	rs1259610303	0.00001
NM_001003694.2(BRPF1):c.945G>A (p.Trp315Ter)
NM_001172509.2(SATB2):c.1249del (p.Ala417fs)
NM_001272071.2(AP1S2):c.288+1G>A
NM_001282531.3(ADNP):c.1191dup (p.Asn398Ter)
NM_001282531.3(ADNP):c.539_542del (p.Val180fs)	rs1057518345
NM_001349338.3(FOXP1):c.1321_1324dup (p.Lys442fs)
NM_001349338.3(FOXP1):c.913_914del (p.His305fs)
NM_004187.5(KDM5C):c.1616C>G (p.Ser539Ter)
NM_013275.6(ANKRD11):c.2408_2412del (p.Lys803fs)	rs886039902
NM_014795.4(ZEB2):c.3056dup (p.Tyr1019Ter)
NM_138576.4(BCL11B):c.1216_1219dup (p.Pro407fs)
NM_152564.5(VPS13B):c.10425dup (p.Cys3476fs)	rs1816414644

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