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, 52

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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: 12

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HGVS	dbSNP	gnomAD frequency
NM_001127222.2(CACNA1A):c.1635C>A (p.Tyr545Ter)	rs1427473572
NM_001127222.2(CACNA1A):c.1745G>A (p.Arg582Gln)	rs121908217
NM_001127222.2(CACNA1A):c.1843A>C (p.Ser615Arg)	rs2057947681
NM_001127222.2(CACNA1A):c.2137G>A (p.Val713Met)	rs2144979269
NM_001127222.2(CACNA1A):c.2311A>T (p.Lys771Ter)	rs2144958410
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln)	rs1057520918
NM_001127222.2(CACNA1A):c.4055C>T (p.Pro1352Leu)	rs1064794808
NM_001127222.2(CACNA1A):c.4064C>T (p.Thr1355Ile)	rs2056767062
NM_001127222.2(CACNA1A):c.4519G>A (p.Ala1507Thr)	rs886037946
NM_001127222.2(CACNA1A):c.5015dup (p.Gln1673fs)	rs2144649756
NM_001127222.2(CACNA1A):c.5335C>T (p.Arg1779Ter)	rs2144629622
NM_001127222.2(CACNA1A):c.841del (p.Cys281fs)	rs2145245595

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