ClinVar Miner

List of variants reported as pathogenic for Intellectual disability by NIHR Bioresource Rare Diseases, University of Cambridge

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001080517.3(SETD5):c.2177_2178del (p.Thr726fs) rs587777326
NM_003931.3(WASF1):c.1482delinsGCCAGG (p.Ile494fs) rs1562159599
NM_003931.3(WASF1):c.1516C>T (p.Arg506Ter) rs1562159562
NM_003931.3(WASF1):c.1558C>T (p.Gln520Ter) rs1562159088
NM_013275.6(ANKRD11):c.4384dup (p.Arg1462fs) rs886041521

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