ClinVar Miner

List of variants studied for Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis by Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_002693.3(POLG):c.2629A>G (p.Met877Val) rs754025885 0.00001
NM_002693.3(POLG):c.1837C>G (p.His613Asp) rs147407423
NM_002693.3(POLG):c.2063G>A (p.Trp688Ter)
NM_002693.3(POLG):c.3483-3C>G

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