ClinVar Miner

List of variants studied for Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_021830.5(TWNK):c.1196A>G (p.Asn399Ser) rs863223921 0.00001
NM_021830.5(TWNK):c.1853C>T (p.Pro618Leu) rs886046632 0.00001
NM_021830.5(TWNK):c.904C>T (p.Arg302Trp) rs374997012 0.00001
NM_021830.5(TWNK):c.1826G>A (p.Arg609His)
NM_021830.5(TWNK):c.827C>T (p.Thr276Met)
NM_021830.5(TWNK):c.905G>A (p.Arg302Gln)

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