List of variants in gene CACNA1A reported as pathogenic for Spinocerebellar ataxia type 6

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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: 13

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HGVS	dbSNP	gnomAD frequency
NM_001127222.2(CACNA1A):c.1634dup (p.Tyr545Ter)	rs1568523843
NM_001127222.2(CACNA1A):c.1745G>A (p.Arg582Gln)	rs121908217
NM_001127222.2(CACNA1A):c.1805T>G (p.Leu602Arg)
NM_001127222.2(CACNA1A):c.1984C>T (p.Gln662Ter)	rs1064795856
NM_001127222.2(CACNA1A):c.3414del (p.Thr1139fs)	rs2144887631
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln)	rs1057520918
NM_001127222.2(CACNA1A):c.4494CTT[2] (p.Phe1501del)	rs886041279
NM_001127222.2(CACNA1A):c.4987C>T (p.Arg1663Ter)	rs1555738369
NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln)	rs121908247
NM_001127222.2(CACNA1A):c.5123T>C (p.Ile1708Thr)	rs121909326
NM_001127222.2(CACNA1A):c.826G>T (p.Glu276Ter)	rs2059069286
NM_001127222.2(CACNA1A):c.835C>T (p.Arg279Cys)	rs1555773764
NM_001127222.2(CACNA1A):c.877G>A (p.Gly293Arg)	rs121908215

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