ClinVar Miner

List of variants in gene CACNA1C reported as likely pathogenic

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Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_000719.7(CACNA1C):c.1553G>A (p.Arg518His) rs1057517711 0.00001
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.3568G>T (p.Val1190Leu) rs1048241141 0.00001
NC_000012.12:g.2044152_2088870del
NM_000719.7(CACNA1C):c.1113G>A (p.Trp371Ter) rs1555672574
NM_000719.7(CACNA1C):c.1158dup (p.Thr387fs)
NM_000719.7(CACNA1C):c.1233G>C (p.Glu411Asp)
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.1609A>G (p.Asn537Asp) rs1467561684
NM_000719.7(CACNA1C):c.1973T>C (p.Leu658Pro) rs2060536584
NM_000719.7(CACNA1C):c.2284C>T (p.Leu762Phe) rs2061710859
NM_000719.7(CACNA1C):c.2317_2319del (p.Lys773del) rs786205771
NM_000719.7(CACNA1C):c.2451del (p.Ala818fs) rs2153231721
NM_000719.7(CACNA1C):c.2460+2T>G
NM_000719.7(CACNA1C):c.2570C>T (p.Pro857Leu) rs750835733
NM_000719.7(CACNA1C):c.2573G>A (p.Arg858His) rs786205753
NM_000719.7(CACNA1C):c.2579G>C (p.Arg860Pro) rs730880056
NM_000719.7(CACNA1C):c.2977G>C (p.Val993Leu) rs1555878893
NM_000719.7(CACNA1C):c.3061T>C (p.Cys1021Arg) rs1057518301
NM_000719.7(CACNA1C):c.3085A>G (p.Ile1029Val)
NM_000719.7(CACNA1C):c.32del (p.Pro11fs) rs2052999161
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.3631A>G (p.Lys1211Glu) rs786205759
NM_000719.7(CACNA1C):c.3717+1_3717+2insA rs1555887068
NM_000719.7(CACNA1C):c.3946-43del
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.4087G>C (p.Val1363Leu) rs1555968941
NM_000719.7(CACNA1C):c.4233-1G>A
NM_000719.7(CACNA1C):c.4417G>C (p.Ala1473Pro) rs2153709491
NM_000719.7(CACNA1C):c.4418C>G (p.Ala1473Gly) rs794727587
NM_000719.7(CACNA1C):c.496T>C (p.Phe166Leu) rs2154562860
NM_000719.7(CACNA1C):c.6031G>A (p.Val2011Ile) rs193922615
NM_000719.7(CACNA1C):c.6307G>T (p.Ala2103Ser) rs193922616
NM_000719.7(CACNA1C):c.722T>C (p.Val241Ala) rs2099444326
NM_000719.7(CACNA1C):c.763C>T (p.Gln255Ter)
NM_000719.7(CACNA1C):c.770T>C (p.Val257Ala)
NM_000719.7(CACNA1C):c.815C>T (p.Ala272Val)
NM_000719.7(CACNA1C):c.970C>T (p.Arg324Trp) rs2154571835
NM_000719.7(CACNA1C):c.971G>A (p.Arg324Gln) rs2099740070
NM_001167623.2(CACNA1C):c.1204G>A (p.Gly402Ser) rs587782933
NM_001167623.2(CACNA1C):c.1207G>A (p.Val403Met) rs2154577341
NM_001167623.2(CACNA1C):c.1213A>G (p.Ser405Gly) rs2154577345
NM_001167623.2(CACNA1C):c.1216G>A (p.Gly406Arg) rs786205745

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