ClinVar Miner

List of variants in gene CACNA1G reported as likely pathogenic by GeneDx

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_018896.5(CACNA1G):c.1890C>G (p.Ser630Arg) rs1064795668
NM_018896.5(CACNA1G):c.2599A>C (p.Thr867Pro) rs886039324
NM_018896.5(CACNA1G):c.277C>T (p.Leu93Phe)
NM_018896.5(CACNA1G):c.556C>T (p.Arg186Ter)
NM_018896.5(CACNA1G):c.590T>G (p.Met197Arg) rs2544775519
NM_018896.5(CACNA1G):c.623T>C (p.Leu208Pro) rs1555638141

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