List of variants reported as likely pathogenic for combined oxidative phosphorylation deficiency by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_020442.6(VARS2):c.1168G>A (p.Ala390Thr)	rs202201763	0.00039
NM_001083614.2(EARS2):c.328G>A (p.Gly110Ser)	rs201842633	0.00025
NM_020442.6(VARS2):c.1834_1835del (p.Leu612fs)	rs777028011	0.00002
NM_024996.7(GFM1):c.521A>G (p.Asn174Ser)	rs119470018	0.00002
NM_001206427.2(ATP5MK):c.87+2dup	rs1339841048	0.00001
NM_005726.6(TSFM):c.908_909del (p.Gln303fs)	rs1491203033	0.00001
NM_018127.7(ELAC2):c.1444G>T (p.Glu482Ter)	rs763770476	0.00001
NM_001136193.2(FASTKD2):c.991-2A>G
NM_001379210.1(SLC25A26):c.191-1G>T
NM_005726.6(TSFM):c.551del (p.Asp184fs)
NM_005932.4(MIPEP):c.1848+2T>G
NM_016034.5(MRPS2):c.300-2A>G
NM_020442.6(VARS2):c.1480-2A>G
NM_020810.3(TRMT5):c.267_270delinsCTG (p.Ala89_Phe90insTer)
NM_024678.6(NARS2):c.947del (p.Asn316fs)	rs755975670
NM_024996.7(GFM1):c.573-1G>C	rs2108009356

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