List of variants in gene CACNA1A reported as pathogenic by Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_001127222.2(CACNA1A):c.5032C>T (p.Arg1678Cys)	rs121908243	0.00001
NM_001127222.2(CACNA1A):c.3843C>G (p.Tyr1281Ter)	rs774224202
NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln)	rs121908247

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