List of variants in gene CACNA1A reported as likely pathogenic for Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; Developmental and epileptic encephalopathy, 42

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001127222.2(CACNA1A):c.1647del (p.Phe550fs)	rs2058057299
NM_001127222.2(CACNA1A):c.1839C>G (p.Ile613Met)	rs374686479
NM_001127222.2(CACNA1A):c.2133C>G (p.Ile711Met)	rs764839814

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