ClinVar Miner

List of variants reported as pathogenic for Spasticity-ataxia-gait anomalies syndrome by OMIM

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_016417.3(GLRX5):c.148AAG[1] (p.Lys51del) rs869320757
NM_016417.3(GLRX5):c.86_93dup (p.Ala32fs) rs869320758

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