List of variants in gene CACNA1A reported as pathogenic by PreventionGenetics, part of Exact Sciences

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_001127221.2(CACNA1A):c.5569C>T (p.Arg1857Ter)	rs1296262946
NM_001127222.2(CACNA1A):c.2039_2040del (p.Gln680fs)	rs1064794262
NM_001127222.2(CACNA1A):c.2850_2859del (p.Ala951fs)
NM_001127222.2(CACNA1A):c.3411del (p.Lys1138fs)	rs746790849
NM_001127222.2(CACNA1A):c.6181_6184del (p.Asn2061fs)	rs2144524434

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