ClinVar Miner

List of variants studied for Cerebellar ataxia; Dysarthria; Intention tremor; Spastic paraparesis; Mild global developmental delay

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Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_001127222.2(CACNA1A):c.574C>T (p.Arg192Trp) rs1057518779 0.00001

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