List of variants reported as pathogenic for Mitochondrial DNA depletion syndrome 13 by Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_001278716.2(FBXL4):c.1444C>T (p.Arg482Trp)	rs398123061	0.00003
NM_001278716.2(FBXL4):c.1648_1649del (p.Asp550fs)	rs1554215986
NM_001278716.2(FBXL4):c.1703G>C (p.Gly568Ala)	rs398123060
NM_001278716.2(FBXL4):c.316C>T (p.Gln106Ter)	rs1554222122

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