ClinVar Miner

List of variants reported as pathogenic for Cerebral visual impairment and intellectual disability by Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001371928.1(AHDC1):c.1402dup (p.Cys468fs)	rs869312858
NM_024989.4(PGAP1):c.274_276del (p.Pro92del)	rs869025579
NM_024989.4(PGAP1):c.921_925del (p.Lys308fs)	rs869025580

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