List of variants studied for combined oxidative phosphorylation deficiency by SIB Swiss Institute of Bioinformatics

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_023936.2(MRPS34):c.94C>T (p.Gln32Ter)	rs763672163	0.00071
NM_015971.4(MRPS7):c.550A>G (p.Met184Val)	rs115047866	0.00067
NM_017646.6(TRIT1):c.1256A>C (p.His419Pro)	rs566435653	0.00005
NM_017646.6(TRIT1):c.848T>G (p.Ile283Ser)	rs199622789	0.00004
NM_016034.5(MRPS2):c.340G>A (p.Asp114Asn)	rs201229537	0.00003
NM_016034.5(MRPS2):c.413G>A (p.Arg138His)	rs758539748	0.00003
NM_016034.5(MRPS2):c.328C>T (p.Arg110Cys)	rs761334309	0.00001
NM_017646.6(TRIT1):c.856A>G (p.Lys286Glu)	rs1060505019	0.00001
NM_017646.6(TRIT1):c.968G>A (p.Arg323Gln)	rs1047420796	0.00001
NM_017646.6(TRIT1):c.1204C>T (p.Arg402Ter)	rs367752391
NM_017646.6(TRIT1):c.22C>T (p.Arg8Ter)	rs184469579
NM_023936.2(MRPS34):c.37G>A (p.Glu13Lys)	rs1131692037
NM_024678.6(NARS2):c.1141A>G (p.Asn381Asp)	rs2135213081
NM_024678.6(NARS2):c.1142A>G (p.Asn381Ser)	rs1565216037
NM_024678.6(NARS2):c.1290G>C (p.Trp430Cys)	rs2135124873
NM_024678.6(NARS2):c.969T>A (p.Tyr323Ter)	rs565224393

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