List of variants reported as uncertain significance for combined oxidative phosphorylation deficiency by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_005035.4(POLRMT):c.2608G>A (p.Asp870Asn)	rs139383492	0.00323
NM_033109.5(PNPT1):c.517G>A (p.Ala173Thr)	rs774425075	0.00001
NM_001379210.1(SLC25A26):c.727C>T (p.Pro243Ser)
NM_005035.4(POLRMT):c.3066G>C (p.Gln1022His)
NM_006886.4(ATP5F1E):c.151G>T (p.Glu51Ter)
NM_012123.4(MTO1):c.1393A>G (p.Met465Val)	rs1000432861
NM_014672.4(PRORP):c.176del (p.Thr59fs)
NM_014672.4(PRORP):c.934C>T (p.Gln312Ter)
NM_016065.4(MRPS16):c.331C>T (p.Arg111Ter)	rs104894168
NM_018292.5(QRSL1):c.173G>T (p.Arg58Ile)
NM_022100.3(MRPS14):c.205-21dup
NM_032620.4(GTPBP3):c.1439T>A (p.Ile480Asn)	rs558425417
NM_032620.4(GTPBP3):c.413C>A (p.Ala138Glu)	rs770906277
NM_033109.5(PNPT1):c.1823-6T>A
NM_145691.4(ATPAF2):c.700G>A (p.Val234Met)

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