ClinVar Miner

List of variants reported as likely pathogenic 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: 2

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HGVS	dbSNP	gnomAD frequency
NM_016529.6(ATP8A2):c.1756C>T (p.Arg586Ter)	rs755133567	0.00001
NM_016529.6(ATP8A2):c.1917T>A (p.Tyr639Ter)	rs1593576872

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