ClinVar Miner

List of variants in gene POLG studied for Mitochondrial DNA depletion syndrome 4B, MNGIE type

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Total variants: 8
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NM_002693.2(POLG):c.13C>T (p.Leu5Phe) rs761648850
NM_002693.2(POLG):c.1615_1623del (p.Phe539_Gln541del) rs754586219
NM_002693.2(POLG):c.1760C>T (p.Pro587Leu) rs113994096
NM_002693.2(POLG):c.2542G>A (p.Gly848Ser) rs113994098
NM_002693.2(POLG):c.2591A>G (p.Asn864Ser) rs121918050
NM_002693.2(POLG):c.3218C>T (p.Pro1073Leu) rs267606959
NM_002693.2(POLG):c.679C>T (p.Arg227Trp) rs121918056
NM_002693.2(POLG):c.752C>T (p.Thr251Ile) rs113994094

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