List of variants in gene CACNA1A reported as pathogenic for Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; 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)
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_001127222.2(CACNA1A):c.1994C>T (p.Thr665Met)	rs121908212
NM_001127222.2(CACNA1A):c.2134G>A (p.Ala712Thr)	rs886037945
NM_001127222.2(CACNA1A):c.4034G>A (p.Arg1345Gln)	rs121908230
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln)	rs1057520918
NM_001127222.2(CACNA1A):c.4064C>T (p.Thr1355Ile)	rs2056767062
NM_001127222.2(CACNA1A):c.4633C>T (p.Arg1545Ter)	rs121909324

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