List of variants in gene CACNA1A reported as pathogenic by Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues

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.2804_2814dup (p.Ser939fs)	rs1600272344
NM_001127222.2(CACNA1A):c.4539_4540del (p.Phe1513fs)	rs2056600391
NM_001127222.2(CACNA1A):c.5529-1241_5529-1240del	rs1568440440

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