ClinVar Miner

List of variants studied for Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_021830.5(TWNK):c.1120C>T (p.Arg374Trp) rs267606682 0.00001
NM_021830.5(TWNK):c.1106C>A (p.Ser369Tyr) rs111033579
NM_021830.5(TWNK):c.1121G>A (p.Arg374Gln) rs1554887097
NM_021830.5(TWNK):c.718C>T (p.Arg240Ter)

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