ClinVar Miner

List of variants in gene CACNA1A reported as pathogenic for Cerebellar ataxia

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001127222.2(CACNA1A):c.5015G>C (p.Arg1672Pro)	rs1057519429
NM_001127222.2(CACNA1A):c.5529-1241_5529-1240del	rs1568440440

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