ClinVar Miner

List of variants reported as uncertain significance for Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_080916.3(DGUOK):c.14G>A (p.Arg5His)
NM_080916.3(DGUOK):c.155C>G (p.Ser52Cys)	rs1204316787
NM_080916.3(DGUOK):c.789AGA[1] (p.Glu264del)	rs1396335431

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