List of variants reported as likely pathogenic for mitochondrial DNA depletion syndrome by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_001953.5(TYMP):c.622G>A (p.Val208Met)	rs121913039	0.00027
NM_002693.3(POLG):c.868C>T (p.Arg290Cys)	rs753416225	0.00006
NM_002693.3(POLG):c.2557C>T (p.Arg853Trp)	rs121918053	0.00003
NM_004614.5(TK2):c.156+2T>C	rs281865499	0.00003
NM_001953.5(TYMP):c.340G>A (p.Asp114Asn)	rs1064792861	0.00001
NM_002693.3(POLG):c.3317T>C (p.Val1106Ala)	rs1354582663	0.00001
NM_004614.5(TK2):c.268C>T (p.Arg90Cys)	rs281865489	0.00001
NM_001953.5(TYMP):c.1040T>C (p.Leu347Pro)
NM_001953.5(TYMP):c.518T>G (p.Met173Arg)	rs1064792865
NM_001953.5(TYMP):c.829dup (p.Leu277fs)
NM_002437.5(MPV17):c.263_265delinsTGT (p.Lys88_Met89delinsMetLeu)	rs1679497709
NM_002437.5(MPV17):c.280G>C (p.Gly94Arg)	rs267607257
NM_002693.3(POLG):c.1760_1765delinsTGGGCA (p.Pro587_Pro589delinsLeuGlyThr)
NM_002693.3(POLG):c.2391G>T (p.Met797Ile)	rs2152062357
NM_002693.3(POLG):c.2768G>A (p.Gly923Asp)
NM_002693.3(POLG):c.3286C>G (p.Arg1096Gly)	rs201732356
NM_004614.5(TK2):c.71_72insTT (p.Pro25fs)	rs2144497920

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