ClinVar Miner

List of variants in gene TARS2 reported as uncertain significance for combined oxidative phosphorylation deficiency

Included ClinVar conditions (79):
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Gene type:
ClinVar version:
Total variants: 14
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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.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

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