ClinVar Miner

List of variants reported as likely pathogenic for Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 by Revvity Omics, Revvity

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_016529.6(ATP8A2):c.3272+1G>A	rs779337270	0.00001
NM_016529.6(ATP8A2):c.1322dup (p.Lys442fs)
NM_016529.6(ATP8A2):c.1474-2del	rs2138177530

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