List of variants reported as likely pathogenic for Combined oxidative phosphorylation defect type 23

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_032620.4(GTPBP3):c.776A>G (p.Asn259Ser)	rs777934121	0.00004
NM_032620.4(GTPBP3):c.440C>T (p.Ala147Val)	rs774708853	0.00001
NM_032620.4(GTPBP3):c.592-1G>C	rs763165541	0.00001
NM_001195422.1(GTPBP3):c.104G>A (p.Trp35Ter)
NM_032620.4(GTPBP3):c.1112T>C (p.Leu371Pro)	rs770871640
NM_032620.4(GTPBP3):c.1291dup (p.Arg431fs)	rs869320746
NM_032620.4(GTPBP3):c.1439T>A (p.Ile480Asn)	rs558425417
NM_032620.4(GTPBP3):c.517C>T (p.Arg173Trp)	rs1274363168
NM_032620.4(GTPBP3):c.521G>C (p.Arg174Pro)	rs766510741
NM_032620.4(GTPBP3):c.846del (p.Thr283fs)
NM_032620.4(GTPBP3):c.865G>T (p.Glu289Ter)	rs1599560256
NM_032620.4(GTPBP3):c.967del (p.Arg323fs)	rs2513207346

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