ClinVar Miner

List of variants in gene combination CACNA1A, LOC126862864 reported as likely pathogenic for Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42

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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: 1

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HGVS	dbSNP	gnomAD frequency
NM_001127222.2(CACNA1A):c.4175T>C (p.Val1392Ala)	rs2144767386

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