ClinVar Miner

List of variants studied for Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 by Revvity Omics, Revvity

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_016529.6(ATP8A2):c.3272+1G>A rs779337270 0.00001
NM_016529.6(ATP8A2):c.-1016T>A
NM_016529.6(ATP8A2):c.1322dup (p.Lys442fs)
NM_016529.6(ATP8A2):c.1474-2del rs2138177530
NM_016529.6(ATP8A2):c.1474C>G (p.Pro492Ala)
NM_016529.6(ATP8A2):c.2059G>T (p.Val687Phe)
NM_016529.6(ATP8A2):c.2212-1G>C rs2137911082
NM_016529.6(ATP8A2):c.2831C>T (p.Pro944Leu)

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