ClinVar Miner

List of variants studied for Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 by Baylor Genetics

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_016529.6(ATP8A2):c.77-2A>G rs373909734 0.00001
NM_016529.6(ATP8A2):c.2158C>T (p.Arg720Ter) rs1566306570
NM_016529.6(ATP8A2):c.3469+1G>C rs763272441
NM_016529.6(ATP8A2):c.743A>G (p.Tyr248Cys) rs200449118

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