List of variants reported as uncertain significance for combined oxidative phosphorylation deficiency by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_032620.4(GTPBP3):c.964G>C (p.Ala322Pro)	rs372174278	0.00009
NM_005932.4(MIPEP):c.604C>T (p.Arg202Cys)	rs749594049	0.00003
NM_032620.4(GTPBP3):c.673G>A (p.Glu225Lys)	rs778983997	0.00002
NM_020745.4(AARS2):c.985C>T (p.Arg329Cys)	rs200187887	0.00001
NM_024996.7(GFM1):c.607A>G (p.Ile203Val)	rs1722079229	0.00001
NM_032620.4(GTPBP3):c.392G>C (p.Ser131Thr)	rs767434617	0.00001
NM_006567.5(FARS2):c.559C>G (p.His187Asp)	rs1758874173
NM_024996.7(GFM1):c.881C>T (p.Pro294Leu)	rs1722451256

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