ClinVar Miner

List of variants in gene CACNA1C reported as uncertain significance by Ambry Genetics

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Total variants: 56
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HGVS dbSNP
NM_000719.7(CACNA1C):c.107C>T (p.Ala36Val) rs755028000
NM_000719.7(CACNA1C):c.1333G>A (p.Glu445Lys) rs1238581042
NM_000719.7(CACNA1C):c.1414G>A (p.Glu472Lys)
NM_000719.7(CACNA1C):c.1420G>A (p.Val474Ile) rs765581751
NM_000719.7(CACNA1C):c.1435G>A (p.Val479Met) rs752677964
NM_000719.7(CACNA1C):c.1486C>T (p.Arg496Trp) rs760888275
NM_000719.7(CACNA1C):c.1487G>A (p.Arg496Gln) rs369255950
NM_000719.7(CACNA1C):c.1555G>A (p.Ala519Thr) rs371702432
NM_000719.7(CACNA1C):c.1753G>A (p.Val585Met) rs763738559
NM_000719.7(CACNA1C):c.1783G>A (p.Val595Ile) rs201392574
NM_000719.7(CACNA1C):c.1852G>A (p.Val618Met)
NM_000719.7(CACNA1C):c.1864G>A (p.Val622Ile) rs768270021
NM_000719.7(CACNA1C):c.1990A>G (p.Ile664Val) rs1555825533
NM_000719.7(CACNA1C):c.2317_2319del (p.Lys773del) rs786205771
NM_000719.7(CACNA1C):c.247C>T (p.Arg83Trp) rs886039214
NM_000719.7(CACNA1C):c.2795T>C (p.Ile932Thr) rs786205756
NM_000719.7(CACNA1C):c.3202del (p.Glu1068fs) rs1555881808
NM_000719.7(CACNA1C):c.3234C>A (p.Asp1078Glu)
NM_000719.7(CACNA1C):c.3424A>C (p.Ile1142Leu) rs752247655
NM_000719.7(CACNA1C):c.3457A>G (p.Ile1153Val) rs370798052
NM_000719.7(CACNA1C):c.3679G>A (p.Val1227Ile) rs373124557
NM_000719.7(CACNA1C):c.3862G>A (p.Ala1288Thr) rs367895193
NM_000719.7(CACNA1C):c.3904G>A (p.Glu1302Lys) rs886038890
NM_000719.7(CACNA1C):c.3949G>A (p.Ala1317Thr) rs749588699
NM_000719.7(CACNA1C):c.4075-4C>A rs369044605
NM_000719.7(CACNA1C):c.4393T>C (p.Phe1465Leu) rs886038809
NM_000719.7(CACNA1C):c.4411T>C (p.Phe1471Leu) rs1555997051
NM_000719.7(CACNA1C):c.460G>A (p.Ala154Thr) rs1064796583
NM_000719.7(CACNA1C):c.4819C>G (p.Pro1607Ala)
NM_000719.7(CACNA1C):c.482G>A (p.Arg161Gln) rs777210376
NM_000719.7(CACNA1C):c.5119G>A (p.Val1707Ile) rs147896322
NM_000719.7(CACNA1C):c.5149G>A (p.Ala1717Thr) rs200865354
NM_000719.7(CACNA1C):c.5308G>A (p.Ala1770Thr)
NM_000719.7(CACNA1C):c.5441A>G (p.Asn1814Ser) rs780210232
NM_000719.7(CACNA1C):c.5456G>A (p.Arg1819Gln) rs764212214
NM_000719.7(CACNA1C):c.5600G>A (p.Arg1867Gln) rs535350857
NM_000719.7(CACNA1C):c.5731G>C (p.Gly1911Arg) rs374528680
NM_000719.7(CACNA1C):c.5737G>A (p.Asp1913Asn) rs181502604
NM_000719.7(CACNA1C):c.5827C>T (p.His1943Tyr) rs200666365
NM_000719.7(CACNA1C):c.5873C>T (p.Thr1958Ile) rs377173230
NM_000719.7(CACNA1C):c.5996C>T (p.Thr1999Ile) rs532551057
NM_000719.7(CACNA1C):c.6007G>A (p.Gly2003Arg) rs886038918
NM_000719.7(CACNA1C):c.6011G>T (p.Gly2004Val) rs374991642
NM_000719.7(CACNA1C):c.6022G>A (p.Ala2008Thr) rs765885227
NM_000719.7(CACNA1C):c.6031G>A (p.Val2011Ile) rs193922615
NM_000719.7(CACNA1C):c.6040G>A (p.Val2014Ile) rs199473660
NM_000719.7(CACNA1C):c.6059G>A (p.Ser2020Asn) rs373503739
NM_000719.7(CACNA1C):c.6060_6065del (p.Gln2021_Ala2022del) rs1569288182
NM_000719.7(CACNA1C):c.6068G>A (p.Gly2023Glu)
NM_000719.7(CACNA1C):c.6161A>G (p.Lys2054Arg) rs200588235
NM_000719.7(CACNA1C):c.6239A>G (p.Asn2080Ser) rs886049209
NM_000719.7(CACNA1C):c.6272A>G (p.Asn2091Ser) rs201090446
NM_000719.7(CACNA1C):c.6275G>C (p.Gly2092Ala) rs755430543
NM_000719.7(CACNA1C):c.898A>G (p.Asn300Asp) rs200289321
NM_000719.7(CACNA1C):c.911T>C (p.Ile304Thr) rs201756421
NM_000719.7(CACNA1C):c.989C>T (p.Thr330Met) rs377345545

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