List of variants in gene CACNA1A reported as pathogenic for cerebellar degeneration

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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: 25

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HGVS	dbSNP	gnomAD frequency
NM_001127222.2(CACNA1A):c.1634dup (p.Tyr545Ter)	rs1568523843
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.1805T>G (p.Leu602Arg)
NM_001127222.2(CACNA1A):c.1843A>C (p.Ser615Arg)	rs2057947681
NM_001127222.2(CACNA1A):c.1984C>T (p.Gln662Ter)	rs1064795856
NM_001127222.2(CACNA1A):c.2134G>A (p.Ala712Thr)
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.3414del (p.Thr1139fs)	rs2144887631
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.4494CTT[2] (p.Phe1501del)	rs886041279
NM_001127222.2(CACNA1A):c.4519G>A (p.Ala1507Thr)	rs886037946
NM_001127222.2(CACNA1A):c.4633C>T (p.Arg1545Ter)	rs121909324
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.5015dup (p.Gln1673fs)	rs2144649756
NM_001127222.2(CACNA1A):c.5123T>C (p.Ile1708Thr)	rs121909326
NM_001127222.2(CACNA1A):c.5335C>T (p.Arg1779Ter)	rs2144629622
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.841del (p.Cys281fs)	rs2145245595
NM_001127222.2(CACNA1A):c.877G>A (p.Gly293Arg)	rs121908215

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