List of variants reported as pathogenic for Mitochondrial DNA depletion syndrome 13 by Baylor Genetics

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_001278716.2(FBXL4):c.64C>T (p.Arg22Ter)	rs200440128	0.00005
NM_001278716.2(FBXL4):c.1444C>T (p.Arg482Trp)	rs398123061	0.00003
NM_001278716.2(FBXL4):c.1790A>C (p.Gln597Pro)	rs201989042	0.00001
NM_001278716.2(FBXL4):c.292C>T (p.Arg98Ter)	rs1554222130	0.00001
NM_001278716.2(FBXL4):c.1067del (p.Gly356fs)	rs1554219474
NM_001278716.2(FBXL4):c.1641_1642del (p.Cys547_Asp548delinsTer)	rs765882664
NM_001278716.2(FBXL4):c.1698A>G (p.Ile566Met)	rs1554215959

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