ClinVar Miner

List of variants studied for Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 by Medical Genetics Laboratory, Tarbiat Modares University

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_016529.6(ATP8A2):c.1312A>G (p.Met438Val) rs2039065206
NM_016529.6(ATP8A2):c.1868-2A>G rs2039720333
NM_016529.6(ATP8A2):c.2473G>C (p.Asp825His) rs796952533

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