List of variants in gene CACNA1A reported as pathogenic by Génétique des Maladies du Développement, Hospices Civils de Lyon

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: 4

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HGVS	dbSNP	gnomAD frequency
NM_001127222.2(CACNA1A):c.2134G>A (p.Ala712Thr)
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln)	rs1057520918
NM_001127222.2(CACNA1A):c.4072C>T (p.Arg1358Trp)	rs1555745461
NM_001127222.2(CACNA1A):c.6181_6184del (p.Asn2061fs)	rs2144524434

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