ClinVar Miner

List of variants in gene CACNA1A reported as uncertain significance for Autistic behavior; Specific learning disability; Abnormality of the basal ganglia; Abnormality of the globus pallidus; Bilateral basal ganglia lesions; Abnormality of the substantia nigra; Attention deficit hyperactivity disorder

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Total variants: 1
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HGVS dbSNP
NM_023035.2(CACNA1A):c.7284_7289delCAGCGG (p.Ser2429_Gly2430del)

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