ClinVar Miner

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

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Total variants: 8
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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.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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