ClinVar Miner

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

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_004056.6(CA8):c.710G>A (p.Arg237Gln) rs387906598 0.00001
NM_004056.6(CA8):c.232C>T (p.Arg78Ter)
NM_004056.6(CA8):c.251A>G (p.Asn84Ser)
NM_004056.6(CA8):c.298T>C (p.Ser100Pro) rs267606695
NM_004056.6(CA8):c.484G>A (p.Gly162Arg)

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