List of variants studied for autosomal dominant non-syndromic intellectual disability by Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_005121.3(MED13):c.5683_5684del (p.Met1895fs)	rs750570850	0.00001
NM_057175.5(NAA15):c.239_240del (p.His80fs)	rs779009256	0.00001
NM_001321075.3(DLG4):c.1878C>A (p.Cys626Ter)	rs1451196379
NM_001374828.1(ARID1B):c.3345G>C (p.Lys1115Asn)	rs1583451360
NM_005121.3(MED13):c.1968-1G>A	rs2080338119
NM_005121.3(MED13):c.4191+1G>A	rs2143386698
NM_006852.6(TLK2):c.1121+1G>A	rs2146617330
NM_006852.6(TLK2):c.1550+1G>A	rs2147105351
NM_015981.4(CAMK2A):c.329C>T (p.Ala110Val)	rs779607303
NM_015981.4(CAMK2A):c.785_790del (p.Ala262_Ala263del)	rs2150279502
NM_019842.4(KCNQ5):c.1040G>C (p.Gly347Ala)	rs1775232605
NM_057175.5(NAA15):c.403-1G>A	rs2110915238
NM_205768.3(ZBTB18):c.1143C>A (p.Cys381Ter)	rs1698428230
NM_205768.3(ZBTB18):c.1391G>C (p.Arg464Pro)	rs1558149913

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