List of variants studied for combined oxidative phosphorylation deficiency by Undiagnosed Diseases Network, NIH

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_025150.5(TARS2):c.773C>T (p.Ser258Leu)	rs145039072	0.00042
NM_020442.6(VARS2):c.1168G>A (p.Ala390Thr)	rs202201763	0.00039
NM_023936.2(MRPS34):c.322-10G>A	rs563189672	0.00015
NM_005932.4(MIPEP):c.358G>A (p.Asp120Asn)	rs780533096	0.00001
NM_005932.4(MIPEP):c.485T>G (p.Leu162Trp)	rs768628283	0.00001
NM_004046.6(ATP5F1A):c.620G>A (p.Arg207His)	rs1555695342
NM_005932.4(MIPEP):c.787-51_993-181del
NM_020442.6(VARS2):c.842G>A (p.Cys281Tyr)
NM_020442.6(VARS2):c.986-14A>G	rs1297230026
NM_025150.5(TARS2):c.1900C>T (p.Gln634Ter)
Single allele

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