ClinVar Miner

List of variants studied for Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_016529.6(ATP8A2):c.1741C>T (p.Arg581Ter) rs1304109530 0.00001
NM_016529.6(ATP8A2):c.3334C>T (p.Arg1112Ter) rs267603791 0.00001
NM_016529.6(ATP8A2):c.1669C>T (p.Gln557Ter) rs2138200443
NM_016529.6(ATP8A2):c.2212-1G>C rs2137911082
NM_016529.6(ATP8A2):c.2293G>T (p.Asp765Tyr) rs1064793377

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