ClinVar Miner

List of variants studied for Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001151.4(SLC25A4):c.368C>A (p.Ala123Asp)	rs121912683	0.00001
NM_001151.4(SLC25A4):c.742G>A (p.Asp248Asn)	rs755597294

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