ClinVar Miner

List of variants reported for Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia by Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001195248.2(APTX):c.593C>T (p.Ala198Val) rs748165574 0.00001
NM_001195248.2(APTX):c.587dup (p.Ala198fs) rs2118686800

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