ClinVar Miner

List of variants studied for Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000718.4(CACNA1B):c.967-8G>A rs78177919 0.00263
NM_000718.4(CACNA1B):c.1310G>A (p.Arg437Gln) rs1320904451 0.00001

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