List of variants in gene CACNA1A reported as likely pathogenic by Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille

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: 5

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HGVS	dbSNP	gnomAD frequency
NM_001127222.2(CACNA1A):c.2598_2599dup (p.Arg867fs)	rs2144956340
NM_001127222.2(CACNA1A):c.4291C>T (p.Arg1431Ter)	rs1568470104
NM_001127222.2(CACNA1A):c.4493C>G (p.Pro1498Arg)	rs2144748419
NM_001127222.2(CACNA1A):c.538G>T (p.Gly180Cys)	rs2144935933
NM_001127222.2(CACNA1A):c.6358C>T (p.Pro2120Ser)	rs2054721635

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