ClinVar Miner

List of variants in gene CACNA1C reported by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Gene type:
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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000719.7(CACNA1C):c.202G>A (p.Ala68Thr) rs752000790 0.00014
NM_000719.7(CACNA1C):c.1217+5G>A rs2099768300
NM_000719.7(CACNA1C):c.1523G>A (p.Arg508Gln) rs762091177
NM_000719.7(CACNA1C):c.2542GAG[2] (p.Glu850del) rs575583988

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