ClinVar Miner

List of variants in gene CACNA1A reported as pathogenic by MGZ Medical Genetics Center

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: 2

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HGVS	dbSNP	gnomAD frequency
NM_001127222.2(CACNA1A):c.2039_2040del (p.Gln680fs)	rs1064794262
NM_001127222.2(CACNA1A):c.4033C>T (p.Arg1345Ter)	rs1568473233

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