List of variants in gene GTPBP3 reported as uncertain significance 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: 13

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HGVS	dbSNP	gnomAD frequency
NM_032620.4(GTPBP3):c.1424G>C (p.Gly475Ala)	rs200086297	0.00026
NM_032620.4(GTPBP3):c.169G>C (p.Ala57Pro)	rs762821280	0.00009
NM_032620.4(GTPBP3):c.964G>C (p.Ala322Pro)	rs372174278	0.00009
NM_032620.4(GTPBP3):c.215C>T (p.Pro72Leu)	rs542667981	0.00002
NM_032620.4(GTPBP3):c.673G>A (p.Glu225Lys)	rs778983997	0.00002
NM_032620.4(GTPBP3):c.1385G>A (p.Arg462Gln)	rs753748448	0.00001
NM_032620.4(GTPBP3):c.1409G>A (p.Arg470Gln)	rs1228454692	0.00001
NM_032620.4(GTPBP3):c.188G>A (p.Arg63Gln)	rs1404625905	0.00001
NM_032620.4(GTPBP3):c.392G>C (p.Ser131Thr)	rs767434617	0.00001
NM_032620.4(GTPBP3):c.664+18T>G	rs369523370	0.00001
NM_032620.4(GTPBP3):c.682G>T (p.Ala228Ser)	rs772348422	0.00001
NM_032620.4(GTPBP3):c.1439T>A (p.Ile480Asn)	rs558425417
NM_032620.4(GTPBP3):c.413C>A (p.Ala138Glu)	rs770906277

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