ClinVar Miner

List of variants reported as likely pathogenic for Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_004056.6(CA8):c.100+1G>A	rs1563390893
NM_004056.6(CA8):c.475A>T (p.Lys159Ter)	rs79267946
NM_004056.6(CA8):c.730dup (p.Gln244fs)	rs1807291595

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