List of variants studied for mitochondrial DNA depletion syndrome by Genomic Research Center, Shahid Beheshti University of Medical Sciences

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu)	rs113994096	0.00160
NM_002693.3(POLG):c.752C>T (p.Thr251Ile)	rs11394094	0.00159
NM_002693.3(POLG):c.460G>A (p.Ala154Thr)	rs753858440	0.00009
NM_002693.3(POLG):c.911T>G (p.Leu304Arg)	rs121918044	0.00004
NM_002693.3(POLG):c.1615_1623del (p.Phe539_Gln541del)	rs754586219	0.00002
NM_006796.3(AFG3L2):c.571G>A (p.Val191Ile)	rs1373473541	0.00002
NM_002693.3(POLG):c.13C>T (p.Leu5Phe)	rs761648850	0.00001
NM_001080449.3(DNA2):c.3014C>T (p.Thr1005Ile)	rs376624048
NM_001278716.2(FBXL4):c.1648_1649del (p.Asp550fs)	rs1554215986
NM_003850.3(SUCLA2):c.751G>A (p.Asp251Asn)	rs397515462
NM_003850.3(SUCLA2):c.815A>T (p.Asp272Val)	rs1555256440
NM_021830.5(TWNK):c.1441C>G (p.Leu481Val)	rs1590020571

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