ClinVar Miner

List of variants studied for Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 by OMIM

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_004618.5(TOP3A):c.403C>T (p.Arg135Ter) rs200944917 0.00006
NM_004618.5(TOP3A):c.298A>G (p.Met100Val) rs376902371 0.00004
NM_004618.5(TOP3A):c.614A>G (p.Asp205Gly)

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