ClinVar Miner

List of variants in gene POLG studied for Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1

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Total variants: 10
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NM_002693.2(POLG):c.1399G>A (p.Ala467Thr) rs113994095
NM_002693.2(POLG):c.1532G>A (p.Ser511Asn) rs121918055
NM_002693.2(POLG):c.1615_1623del (p.Phe539_Gln541del) rs754586219
NM_002693.2(POLG):c.1646del (p.Leu549fs) rs1555453538
NM_002693.2(POLG):c.2492A>G (p.Tyr831Cys) rs41549716
NM_002693.2(POLG):c.2542G>A (p.Gly848Ser) rs113994098
NM_002693.2(POLG):c.2864A>G (p.Tyr955Cys) rs113994099
NM_002693.2(POLG):c.2869G>T (p.Ala957Ser) rs121918051
NM_002693.2(POLG):c.3211C>T (p.Arg1071Cys) rs762593265
NM_002693.2(POLG):c.460G>A (p.Ala154Thr) rs753858440

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