List of variants in gene CACNA1A reported as pathogenic by Baylor Genetics

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: 7

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HGVS	dbSNP	gnomAD frequency
NM_001127222.2(CACNA1A):c.2482C>T (p.Gln828Ter)	rs2057736834
NM_001127222.2(CACNA1A):c.3039C>G (p.Tyr1013Ter)	rs1568507151
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln)	rs1057520918
NM_001127222.2(CACNA1A):c.4055C>T (p.Pro1352Leu)	rs1064794808
NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln)	rs121908247
NM_001127222.2(CACNA1A):c.5393C>T (p.Ser1798Leu)	rs1064794261
NM_001127222.2(CACNA1A):c.826G>T (p.Glu276Ter)	rs2059069286

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