ClinVar Miner

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

Included ClinVar conditions (49):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001321075.3(DLG4):c.1878C>A (p.Cys626Ter) rs1451196379
NM_005121.3(MED13):c.1968-1G>A rs2080338119
NM_006852.6(TLK2):c.1121+1G>A rs2146617330
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.1391G>C (p.Arg464Pro) rs1558149913

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