List of variants in gene CACNA1A reported as likely 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: 10

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HGVS	dbSNP	gnomAD frequency
NM_001127222.2(CACNA1A):c.2345G>C (p.Arg782Pro)	rs1233611505
NM_001127222.2(CACNA1A):c.2524_2551del (p.Glu842fs)	rs2144956632
NM_001127222.2(CACNA1A):c.2958_2959dup (p.Arg987fs)	rs1555755878
NM_001127222.2(CACNA1A):c.4052G>A (p.Arg1351Gln)	rs1555745467
NM_001127222.2(CACNA1A):c.4927G>A (p.Asp1643Asn)	rs1064795531
NM_001127222.2(CACNA1A):c.4979G>A (p.Arg1660His)	rs121908216
NM_001127222.2(CACNA1A):c.519C>A (p.Asp173Glu)	rs2144936093
NM_001127222.2(CACNA1A):c.5264A>G (p.Glu1755Gly)
NM_001127222.2(CACNA1A):c.5439dup (p.Glu1814Ter)	rs2055612253
NM_001127222.2(CACNA1A):c.680T>G (p.Leu227Arg)	rs1057522420

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