ClinVar Miner

List of variants in gene CACNA1C reported as likely pathogenic for not provided

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_000719.7(CACNA1C):c.169G>A (p.Asp57Asn) rs773528195 0.00001
NM_000719.7(CACNA1C):c.2569C>G (p.Pro857Ala) rs1391136601 0.00001
NM_000719.7(CACNA1C):c.2579G>A (p.Arg860Gln) rs730880056 0.00001
NM_000719.7(CACNA1C):c.1255G>C (p.Gly419Arg) rs786205776
NM_000719.7(CACNA1C):c.1552C>T (p.Arg518Cys) rs786205748
NM_000719.7(CACNA1C):c.15_16del (p.Thr6fs) rs786205782
NM_000719.7(CACNA1C):c.2284C>T (p.Leu762Phe) rs2061710859
NM_000719.7(CACNA1C):c.2573G>A (p.Arg858His) rs786205753
NM_000719.7(CACNA1C):c.2977G>C (p.Val993Leu) rs1555878893
NM_000719.7(CACNA1C):c.3500T>C (p.Val1167Ala) rs2153440081
NM_000719.7(CACNA1C):c.3503C>A (p.Thr1168Asn) rs2153440093
NM_000719.7(CACNA1C):c.3717+1_3717+2insA rs1555887068
NM_000719.7(CACNA1C):c.3985C>T (p.Arg1329Cys) rs2153655212
NM_000719.7(CACNA1C):c.4087G>A (p.Val1363Met) rs1555968941
NM_000719.7(CACNA1C):c.4418C>G (p.Ala1473Gly) rs794727587
NM_000719.7(CACNA1C):c.970C>T (p.Arg324Trp) rs2154571835
NM_001167623.2(CACNA1C):c.1207G>A (p.Val403Met) rs2154577341

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