ClinVar Miner

List of variants in gene POLG reported as pathogenic for Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis

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Total variants: 5
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NM_002693.2(POLG):c.1399G>A (p.Ala467Thr) rs113994095
NM_002693.2(POLG):c.1879C>T (p.Arg627Trp) rs121918046
NM_002693.2(POLG):c.2243G>C (p.Trp748Ser) rs113994097
NM_002693.2(POLG):c.2794C>T (p.His932Tyr) rs121918048
NM_002693.2(POLG):c.3151G>C (p.Gly1051Arg) rs121918049

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