ClinVar Miner

List of variants studied for Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_016529.6(ATP8A2):c.1756C>T (p.Arg586Ter) rs755133567 0.00001
GRCh38/hg38 13q12.13(chr13:25567155-25574530)x0
NM_016529.6(ATP8A2):c.1917T>A (p.Tyr639Ter) rs1593576872

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