List of variants studied for Combined oxidative phosphorylation defect type 23 by OMIM

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Total variants: 6

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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.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

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