ClinVar Miner

List of variants studied for Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 by Genomic Research Center, Shahid Beheshti University of Medical Sciences

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_016529.6(ATP8A2):c.2333G>A (p.Arg778Gln) rs202017613 0.00036
NM_016529.6(ATP8A2):c.3439C>T (p.Arg1147Trp) rs371560228 0.00008

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