List of variants reported as uncertain significance for Combined oxidative phosphorylation defect type 21

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 16

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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.1354C>T (p.Arg452Trp)	rs146503501	0.00028
NM_025150.5(TARS2):c.49G>A (p.Ala17Thr)	rs367864616	0.00008
NM_025150.5(TARS2):c.1207G>A (p.Ala403Thr)	rs587685186	0.00002
NM_025150.5(TARS2):c.1036C>T (p.Arg346Cys)	rs749476185	0.00001
NM_025150.5(TARS2):c.1838C>T (p.Pro613Leu)	rs767519084	0.00001
NM_025150.5(TARS2):c.326G>A (p.Arg109Gln)	rs760526545	0.00001
NM_025150.5(TARS2):c.1026G>C (p.Glu342Asp)
NM_025150.5(TARS2):c.1312C>G (p.Arg438Gly)
NM_025150.5(TARS2):c.1534G>A (p.Glu512Lys)
NM_025150.5(TARS2):c.1630C>T (p.Leu544Phe)
NM_025150.5(TARS2):c.470C>T (p.Thr157Ile)
NM_025150.5(TARS2):c.736C>T (p.Arg246Trp)	rs763015481
NM_025150.5(TARS2):c.774+5G>T
NM_025150.5(TARS2):c.887A>G (p.Glu296Gly)	rs1669673209
NM_025150.5(TARS2):c.983G>C (p.Gly328Ala)

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