ClinVar Miner

List of variants in gene FIG4 studied for Congenital cerebellar hypoplasia; Cerebellar ataxia; Strabismus; Osteoporosis; Cerebellar vermis hypoplasia; Intention tremor; Delayed gross motor development; Recurrent fractures; Reduced bone mineral density; Atrophy of the dentate nucleus; Speech articulation difficulties; Delayed fine motor development; Cerebellar hemisphere hypoplasia

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Total variants: 1
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NM_014845.5(FIG4):c.2467C>T (p.Gln823Ter) rs745790694

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