ClinVar Miner

List of variants studied for Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 by OMIM

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_002693.3(POLG):c.2492A>G (p.Tyr831Cys) rs41549716 0.00708
NM_002693.3(POLG):c.1532G>A (p.Ser511Asn) rs121918055
NM_002693.3(POLG):c.2864A>G (p.Tyr955Cys) rs113994099
NM_002693.3(POLG):c.2869G>T (p.Ala957Ser) rs121918051

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