ClinVar Miner

List of variants in gene POLG studied for Progressive sclerosing poliodystrophy; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; Mitochondrial DNA depletion syndrome 4B, MNGIE type

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Total variants: 2
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HGVS dbSNP
NM_002693.2(POLG):c.1156C>T (p.Arg386Cys) rs199759055
NM_002693.2(POLG):c.3098C>T (p.Ala1033Val) rs551708243

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