ClinVar Miner

List of variants in gene POLG studied for Mitochondrial DNA depletion syndrome 1 (MNGIE type)

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Total variants: 3
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HGVS dbSNP
NM_002693.2(POLG):c.1760C>T (p.Pro587Leu) rs113994096
NM_002693.2(POLG):c.460G>A (p.Ala154Thr) rs753858440
NM_002693.2(POLG):c.752C>T (p.Thr251Ile) rs113994094

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