ClinVar Miner

List of variants studied for Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis by Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_002693.3(POLG):c.2792T>G (p.Leu931Arg)	rs1484810169
NM_002693.3(POLG):c.3630C>A (p.Tyr1210Ter)	rs139562274

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