List of variants in gene GTPBP3 reported as 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.964G>C (p.Ala322Pro)	rs372174278	0.00009
NM_032620.4(GTPBP3):c.187C>T (p.Arg63Ter)	rs1419691572	0.00001
NM_032620.4(GTPBP3):c.1009G>C (p.Asp337His)	rs886037735
NM_032620.4(GTPBP3):c.1291dup (p.Arg431fs)	rs869320746
NM_032620.4(GTPBP3):c.1375G>A (p.Glu459Lys)	rs886037734
NM_032620.4(GTPBP3):c.32_33delinsGTG (p.Gln11fs)	rs886037736
NM_032620.4(GTPBP3):c.476A>T (p.Glu159Val)	rs730880255
NM_032620.4(GTPBP3):c.643G>T (p.Glu215Ter)	rs1555726849
NM_032620.4(GTPBP3):c.664+23_664+26del	rs765975578

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