ClinVar Miner

List of variants studied for Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_016529.6(ATP8A2):c.2314G>C (p.Ala772Pro) rs764092726
NM_016529.6(ATP8A2):c.780-1G>T

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