ClinVar Miner

List of variants reported as uncertain significance for Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_016529.6(ATP8A2):c.158C>T (p.Ala53Val) rs202073376 0.00078
NM_016529.6(ATP8A2):c.2333G>A (p.Arg778Gln) rs202017613 0.00036
NM_016529.6(ATP8A2):c.2896A>G (p.Ile966Val) rs202061089 0.00013
NM_016529.6(ATP8A2):c.3439C>T (p.Arg1147Trp) rs371560228 0.00008
NM_016529.6(ATP8A2):c.1665G>A (p.Met555Ile) rs1398724919 0.00001
NM_016529.6(ATP8A2):c.1976G>A (p.Arg659Gln) rs566960742 0.00001
NM_016529.6(ATP8A2):c.2689G>A (p.Ala897Thr) rs1171835963 0.00001
GRCh38/hg38 13q12.13(chr13:25567155-25574530)x0
NM_016529.6(ATP8A2):c.-1016T>A
NM_016529.6(ATP8A2):c.1312A>G (p.Met438Val) rs2039065206
NM_016529.6(ATP8A2):c.1474C>G (p.Pro492Ala)
NM_016529.6(ATP8A2):c.1669C>T (p.Gln557Ter)
NM_016529.6(ATP8A2):c.1931A>C (p.Lys644Thr)
NM_016529.6(ATP8A2):c.2059G>T (p.Val687Phe)
NM_016529.6(ATP8A2):c.2314G>C (p.Ala772Pro) rs764092726
NM_016529.6(ATP8A2):c.2473G>C (p.Asp825His) rs796952533
NM_016529.6(ATP8A2):c.2831C>T (p.Pro944Leu)
NM_016529.6(ATP8A2):c.3273-3C>G rs748588986
NM_016529.6(ATP8A2):c.743A>G (p.Tyr248Cys) rs200449118

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