ClinVar Miner

List of variants reported as likely pathogenic for Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4

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Total variants: 9
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NM_016529.6(ATP8A2):c.1741C>T (p.Arg581Ter) rs1304109530
NM_016529.6(ATP8A2):c.1761dup (p.Arg588fs) rs1156904586
NM_016529.6(ATP8A2):c.1917T>A (p.Tyr639Ter) rs1593576872
NM_016529.6(ATP8A2):c.210del (p.Asp70fs)
NM_016529.6(ATP8A2):c.2158C>T (p.Arg720Ter)
NM_016529.6(ATP8A2):c.2749A>G (p.Asn917Asp) rs1593410369

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