ClinVar Miner

List of variants in gene CACNA1B reported as uncertain significance for Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements

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Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_000718.4(CACNA1B):c.967-8G>A rs78177919 0.00263
NM_000718.4(CACNA1B):c.6095C>G (p.Thr2032Ser) rs201940970 0.00160
NM_000718.4(CACNA1B):c.5455G>A (p.Ala1819Thr) rs200122209 0.00039
NM_000718.4(CACNA1B):c.6452C>T (p.Ser2151Leu) rs200034261 0.00026
NM_000718.4(CACNA1B):c.6238G>A (p.Ala2080Thr) rs1296356489 0.00002
NM_000718.4(CACNA1B):c.1310G>A (p.Arg437Gln) rs1320904451 0.00001
NM_000718.4(CACNA1B):c.2593G>A (p.Asp865Asn) rs1958874060 0.00001
NM_000718.4(CACNA1B):c.3481G>A (p.Ala1161Thr) rs200326973 0.00001
NM_000718.4(CACNA1B):c.6323G>A (p.Arg2108Gln) rs1325101942 0.00001
NM_000718.4(CACNA1B):c.1348C>T (p.Arg450Cys)
NM_000718.4(CACNA1B):c.1663G>C (p.Val555Leu)
NM_000718.4(CACNA1B):c.1708A>G (p.Ser570Gly)
NM_000718.4(CACNA1B):c.2020G>A (p.Glu674Lys)
NM_000718.4(CACNA1B):c.2639G>A (p.Gly880Asp)
NM_000718.4(CACNA1B):c.2681A>T (p.Lys894Met)
NM_000718.4(CACNA1B):c.2869C>T (p.Arg957Trp)
NM_000718.4(CACNA1B):c.2966A>G (p.His989Arg)
NM_000718.4(CACNA1B):c.2988CACGGAGAAGGAGGC[3] (p.Ala1006_Glu1007insThrGluLysGluAla)
NM_000718.4(CACNA1B):c.3013G>A (p.Glu1005Lys) rs1324362568
NM_000718.4(CACNA1B):c.3149A>T (p.Lys1050Met)
NM_000718.4(CACNA1B):c.3520C>T (p.Arg1174Cys)
NM_000718.4(CACNA1B):c.3804C>A (p.Leu1268=)
NM_000718.4(CACNA1B):c.4373A>C (p.Gln1458Pro)
NM_000718.4(CACNA1B):c.4570G>A (p.Ala1524Thr)
NM_000718.4(CACNA1B):c.4601C>T (p.Ala1534Val) rs2133507643
NM_000718.4(CACNA1B):c.479_481dup (p.Ser160_Tyr161insSer)
NM_000718.4(CACNA1B):c.5506_5515delinsCTGGTACAGCTTA (p.Thr1836_Leu1839delinsLeuValGlnLeuMet)
NM_000718.4(CACNA1B):c.5560G>A (p.Val1854Ile) rs148799345
NM_000718.4(CACNA1B):c.5705C>T (p.Pro1902Leu)
NM_000718.4(CACNA1B):c.5840_5848del (p.Ala1947_His1949del)
NM_000718.4(CACNA1B):c.6173G>A (p.Arg2058His)
NM_000718.4(CACNA1B):c.6340C>T (p.Arg2114Trp)
NM_000718.4(CACNA1B):c.6394C>T (p.Arg2132Cys)
NM_000718.4(CACNA1B):c.6950C>T (p.Thr2317Ile)
NM_000718.4(CACNA1B):c.6997C>T (p.Pro2333Ser)

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