List of variants in gene GTPBP3 reported as likely pathogenic for combined oxidative phosphorylation defect type 23

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_032620.4(GTPBP3):c.592-1G>C	rs763165541	0.00004
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.1112T>C (p.Leu371Pro)	rs770871640
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.967del (p.Arg323fs)

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