List of variants in gene CACNA1A reported by Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_001127222.2(CACNA1A):c.6922G>A (p.Gly2308Ser)	rs758924907	0.00006
NM_001127222.2(CACNA1A):c.2899G>A (p.Glu967Lys)	rs1555755929	0.00001
NM_001127222.2(CACNA1A):c.6231C>A (p.Asp2077Glu)	rs751515136	0.00001
NM_001127222.2(CACNA1A):c.6304-3C>T	rs1354563230	0.00001
NM_001127222.2(CACNA1A):c.2804_2814dup (p.Ser939fs)	rs1600272344
NM_001127222.2(CACNA1A):c.4927G>T (p.Asp1643Tyr)
NM_001127222.2(CACNA1A):c.5534G>A (p.Arg1845His)
NM_001127222.2(CACNA1A):c.5720A>G (p.Lys1907Arg)	rs2144594984
NM_001127222.2(CACNA1A):c.6587_6598dup (p.Arg2199_Gly2200insAspGlnGluArg)
NM_001127222.2(CACNA1A):c.7348C>T (p.Arg2450Cys)	rs1397153104

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