List of variants in gene CACNA1A reported as likely pathogenic by Genetic Services Laboratory, University of Chicago

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001127222.2(CACNA1A):c.1594G>A (p.Glu532Lys)	rs1064794263	0.00001
NM_001127222.2(CACNA1A):c.2026G>A (p.Gly676Arg)	rs2144980758
NM_001127222.2(CACNA1A):c.3692+1G>A	rs1315533129
NM_001127222.2(CACNA1A):c.4043G>C (p.Arg1348Pro)	rs1057520918
NM_001127222.2(CACNA1A):c.4979G>A (p.Arg1660His)	rs121908216

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