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

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_012123.4(MTO1):c.1129+246G>A	rs118010902	0.00049
NM_005932.4(MIPEP):c.1670T>C (p.Met557Thr)	rs139684349	0.00031
NM_005932.4(MIPEP):c.1679G>A (p.Arg560His)	rs753252850	0.00002
NM_020442.6(VARS2):c.104A>G (p.His35Arg)	rs199534441	0.00002
NM_020191.4(MRPS22):c.508C>T (p.Arg170Cys)	rs948280864	0.00001
NM_001083614.2(EARS2):c.790C>G (p.Leu264Val)	rs1555503379
NM_020442.6(VARS2):c.1637A>T (p.Glu546Val)	rs761726567
NM_020442.6(VARS2):c.3020A>G (p.Gln1007Arg)	rs773482888
NM_020442.6(VARS2):c.3098C>T (p.Ser1033Phe)	rs1562465419
NM_024537.4(CARS2):c.1629A>C (p.Arg543Ser)	rs1594195081
NM_024678.6(NARS2):c.1306C>G (p.Arg436Gly)	rs751383065

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