List of variants in gene CACNA1A reported as pathogenic by Revvity Omics, Revvity

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: 6

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HGVS	dbSNP	gnomAD frequency
NM_001127222.2(CACNA1A):c.1745G>A (p.Arg582Gln)	rs121908217
NM_001127222.2(CACNA1A):c.2039_2040del (p.Gln680fs)	rs1064794262
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln)	rs1057520918
NM_001127222.2(CACNA1A):c.4051C>T (p.Arg1351Ter)	rs1568473171
NM_001127222.2(CACNA1A):c.4987C>T (p.Arg1663Ter)	rs1555738369
NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln)	rs121908247

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