ClinVar Miner

List of variants in gene CACNA1C reported by CeGaT Praxis fuer Humangenetik Tuebingen

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Total variants: 39
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HGVS dbSNP
GRCh37/hg19 12p13.33(chr12:2162777-2800066)x1
NM_000719.7(CACNA1C):c.-3T>C
NM_000719.7(CACNA1C):c.1204G>C (p.Gly402Arg) rs80315385
NM_000719.7(CACNA1C):c.1487G>A (p.Arg496Gln) rs369255950
NM_000719.7(CACNA1C):c.1783G>A (p.Val595Ile) rs201392574
NM_000719.7(CACNA1C):c.202G>A (p.Ala68Thr) rs752000790
NM_000719.7(CACNA1C):c.2067C>T (p.Phe689=) rs112170830
NM_000719.7(CACNA1C):c.2074T>A (p.Phe692Ile)
NM_000719.7(CACNA1C):c.2269G>C (p.Ala757Pro) rs560163331
NM_000719.7(CACNA1C):c.2284C>T (p.Leu762Phe)
NM_000719.7(CACNA1C):c.2358G>A (p.Lys786=) rs982422518
NM_000719.7(CACNA1C):c.2391G>A (p.Gly797=) rs374857905
NM_000719.7(CACNA1C):c.2437G>A (p.Gly813Arg) rs545511851
NM_000719.7(CACNA1C):c.2460+6G>A rs369246066
NM_000719.7(CACNA1C):c.2684G>A (p.Arg895His) rs786205755
NM_000719.7(CACNA1C):c.4068C>T (p.Ser1356=) rs765091519
NM_000719.7(CACNA1C):c.4087G>A (p.Val1363Met) rs1555968941
NM_000719.7(CACNA1C):c.408C>T (p.Ala136=) rs769295096
NM_000719.7(CACNA1C):c.4380C>T (p.Tyr1460=) rs747654175
NM_000719.7(CACNA1C):c.459C>T (p.Asn153=) rs367638447
NM_000719.7(CACNA1C):c.4727-61G>A rs761831470
NM_000719.7(CACNA1C):c.4942G>A (p.Ala1648Thr) rs370432385
NM_000719.7(CACNA1C):c.5022C>T (p.Thr1674=) rs372300407
NM_000719.7(CACNA1C):c.5255C>T (p.Thr1752Ile) rs752694570
NM_000719.7(CACNA1C):c.5444+599C>A rs551355331
NM_000719.7(CACNA1C):c.5451C>T (p.His1817=) rs113239186
NM_000719.7(CACNA1C):c.5533A>C (p.Thr1845Pro) rs1603457628
NM_000719.7(CACNA1C):c.5549A>C (p.Glu1850Ala) rs375846068
NM_000719.7(CACNA1C):c.5593G>A (p.Glu1865Lys) rs200231105
NM_000719.7(CACNA1C):c.5637C>A (p.Ile1879=)
NM_000719.7(CACNA1C):c.5644T>C (p.Ser1882Pro) rs369438564
NM_000719.7(CACNA1C):c.5729G>A (p.Arg1910Gln) rs190288386
NM_000719.7(CACNA1C):c.5785-4G>A rs763102512
NM_000719.7(CACNA1C):c.6000C>T (p.Pro2000=) rs772160508
NM_000719.7(CACNA1C):c.6001G>A (p.Gly2001Ser) rs552478740
NM_000719.7(CACNA1C):c.6271A>G (p.Asn2091Asp) rs1603473411
NM_000719.7(CACNA1C):c.6272A>G (p.Asn2091Ser) rs201090446
NM_000719.7(CACNA1C):c.792C>A (p.Ala264=) rs750459136
NM_000719.7(CACNA1C):c.98A>G (p.Asn33Ser) rs535608443

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