List of variants reported as likely pathogenic for mitochondrial DNA depletion syndrome by Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_002693.3(POLG):c.911T>G (p.Leu304Arg)	rs121918044	0.00004
NM_001278716.2(FBXL4):c.1787del (p.Ser596fs)	rs2128374840
NM_002693.3(POLG):c.368T>G (p.Val123Gly)
NM_080916.3(DGUOK):c.142+4A>C

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