List of variants reported as pathogenic for Combined oxidative phosphorylation defect type 21 by OMIM

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_025150.5(TARS2):c.773C>T (p.Ser258Leu)	rs145039072	0.00042
NM_025150.5(TARS2):c.1285C>T (p.Arg429Ter)	rs1382181446	0.00004
NM_025150.5(TARS2):c.2143G>A (p.Glu715Lys)	rs756855066	0.00002
NM_025150.5(TARS2):c.968T>G (p.Phe323Cys)	rs760208518	0.00002
NM_025150.5(TARS2):c.1838C>T (p.Pro613Leu)	rs767519084	0.00001
NM_025150.5(TARS2):c.387+6T>C	rs1064797119	0.00001
NM_025150.5(TARS2):c.470C>G (p.Thr157Arg)	rs758088548	0.00001
NM_025150.5(TARS2):c.695+3A>G	rs587777594	0.00001
NM_025150.5(TARS2):c.1274A>G (p.Glu425Gly)	rs2102494691
NM_025150.5(TARS2):c.2051G>A (p.Arg684Gln)	rs1322913410
NM_025150.5(TARS2):c.2140G>A (p.Ala714Thr)	rs1064797120
NM_025150.5(TARS2):c.845C>T (p.Pro282Leu)	rs587777593

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