List of variants in gene CACNA1A reported as pathogenic by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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: 8

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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.1538G>A (p.Trp513Ter)	rs2058143736
NM_001127222.2(CACNA1A):c.3829C>T (p.Arg1277Ter)	rs121909323
NM_001127222.2(CACNA1A):c.4052G>A (p.Arg1351Gln)	rs1555745467
NM_001127222.2(CACNA1A):c.4633C>T (p.Arg1545Ter)	rs121909324
NM_001127222.2(CACNA1A):c.492C>G (p.Tyr164Ter)
NM_001127222.2(CACNA1A):c.5021del (p.Gly1674fs)
NM_001127222.2(CACNA1A):c.592C>T (p.Arg198Ter)	rs886042230

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