List of variants reported as pathogenic for combined oxidative phosphorylation deficiency by Genomic Research Center, Shahid Beheshti University of Medical Sciences

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_213649.2(SFXN4):c.940C>T (p.Gln314Ter)	rs1156283736	0.00001
NM_012123.4(MTO1):c.97del (p.Arg33fs)	rs1582666067
NM_022915.5(MRPL44):c.800T>A (p.Leu267Ter)	rs1574796091
NM_024678.6(NARS2):c.10del (p.Val4fs)	rs1555047651

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