List of variants reported as likely pathogenic for Mitochondrial DNA depletion syndrome 13 by Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine

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Total variants: 31

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HGVS	dbSNP	gnomAD frequency
NM_001278716.2(FBXL4):c.1232G>A (p.Cys411Tyr)	rs773850151	0.00014
NM_001278716.2(FBXL4):c.1288C>T (p.Arg430Ter)	rs758395213	0.00003
NM_001278716.2(FBXL4):c.1444C>T (p.Arg482Trp)	rs398123061	0.00003
NM_001278716.2(FBXL4):c.1622C>T (p.Thr541Ile)	rs1391578014	0.00003
NM_001278716.2(FBXL4):c.1304G>A (p.Arg435Gln)	rs754142863	0.00002
NM_001278716.2(FBXL4):c.1442T>C (p.Leu481Pro)	rs772037717	0.00001
NM_001278716.2(FBXL4):c.1586C>A (p.Ala529Glu)	rs1443104983	0.00001
NM_001278716.2(FBXL4):c.1790A>C (p.Gln597Pro)	rs201989042	0.00001
NM_001278716.2(FBXL4):c.419T>C (p.Val140Ala)	rs1057519447	0.00001
NM_001278716.2(FBXL4):c.445G>A (p.Gly149Arg)	rs1345325140	0.00001
NM_001278716.2(FBXL4):c.858+5G>C	rs1257765682	0.00001
NM_001278716.2(FBXL4):c.1229C>T (p.Ser410Phe)	rs1554218821
NM_001278716.2(FBXL4):c.1304G>T (p.Arg435Leu)	rs754142863
NM_001278716.2(FBXL4):c.1360C>T (p.Gln454Ter)	rs750973870
NM_001278716.2(FBXL4):c.1411G>A (p.Ala471Thr)	rs1227524799
NM_001278716.2(FBXL4):c.1540T>G (p.Trp514Gly)	rs1411907961
NM_001278716.2(FBXL4):c.1546_1563del (p.Pro516_Ser521del)	rs878853112
NM_001278716.2(FBXL4):c.1694A>G (p.Asp565Gly)	rs398123062
NM_001278716.2(FBXL4):c.1698A>G (p.Ile566Met)	rs1554215959
NM_001278716.2(FBXL4):c.1703G>C (p.Gly568Ala)	rs398123060
NM_001278716.2(FBXL4):c.1750T>C (p.Cys584Arg)	rs1554215804
NM_001278716.2(FBXL4):c.1772A>G (p.Asp591Gly)	rs747618415
NM_001278716.2(FBXL4):c.1836del (p.Val613fs)	rs751656896
NM_001278716.2(FBXL4):c.1838T>A (p.Val613Glu)	rs1554215766
NM_001278716.2(FBXL4):c.370C>T (p.Gln124Ter)	rs761974928
NM_001278716.2(FBXL4):c.415_416insTT (p.Ala139fs)	rs767543583
NM_001278716.2(FBXL4):c.417_418insA (p.Val140fs)	rs761902417
NM_001278716.2(FBXL4):c.614T>C (p.Ile205Thr)	rs1350566881
NM_001278716.2(FBXL4):c.661G>C (p.Asp221His)	rs1554221191
NM_001278716.2(FBXL4):c.662A>T (p.Asp221Val)	rs1554221189
NM_001278716.2(FBXL4):c.903T>A (p.Cys301Ter)	rs775768793

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