ClinVar Miner

List of variants in gene CACNA1C reported as uncertain significance for Inborn genetic diseases

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000719.7(CACNA1C):c.2396C>A (p.Ser799Tyr) rs398123519 0.00003
NM_000719.7(CACNA1C):c.4790G>C (p.Ser1597Thr) rs1356292633 0.00001
NM_000719.7(CACNA1C):c.5164T>G (p.Phe1722Val) rs751493277 0.00001
NM_000719.7(CACNA1C):c.1385G>A (p.Arg462Gln) rs794727961
NM_000719.7(CACNA1C):c.1990A>G (p.Ile664Val) rs1555825533
NM_000719.7(CACNA1C):c.3202del (p.Glu1068fs) rs1555881808
NM_000719.7(CACNA1C):c.3995G>A (p.Arg1332Gln) rs2153655235
NM_000719.7(CACNA1C):c.4448C>A (p.Thr1483Lys)
NM_000719.7(CACNA1C):c.5435G>A (p.Ser1812Asn) rs1556123007
NM_000719.7(CACNA1C):c.6041T>C (p.Val2014Ala)

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