ClinVar Miner

List of variants in gene TARS2 studied for combined oxidative phosphorylation defect type 21

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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_025150.5(TARS2):c.1719-47C>T rs3738487 0.29599
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.1285C>T (p.Arg429Ter) rs1382181446 0.00004
NM_025150.5(TARS2):c.1207G>A (p.Ala403Thr) rs587685186 0.00002
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.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.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.1026G>C (p.Glu342Asp)
NM_025150.5(TARS2):c.1255C>T (p.Arg419Trp)
NM_025150.5(TARS2):c.1274A>G (p.Glu425Gly) rs2102494691
NM_025150.5(TARS2):c.1312C>G (p.Arg438Gly)
NM_025150.5(TARS2):c.1318G>A (p.Glu440Lys)
NM_025150.5(TARS2):c.1534G>A (p.Glu512Lys)
NM_025150.5(TARS2):c.1578G>A (p.Trp526Ter)
NM_025150.5(TARS2):c.1630C>T (p.Leu544Phe)
NM_025150.5(TARS2):c.1678G>C (p.Asp560His) rs2102510285
NM_025150.5(TARS2):c.1719-17C>A rs201218331
NM_025150.5(TARS2):c.1900C>T (p.Gln634Ter)
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.388-1G>C rs2102476204
NM_025150.5(TARS2):c.464C>T (p.Pro155Leu)
NM_025150.5(TARS2):c.470C>T (p.Thr157Ile)
NM_025150.5(TARS2):c.55A>G (p.Arg19Gly)
NM_025150.5(TARS2):c.736C>T (p.Arg246Trp) rs763015481
NM_025150.5(TARS2):c.774+5G>T
NM_025150.5(TARS2):c.845C>T (p.Pro282Leu) rs587777593
NM_025150.5(TARS2):c.887A>G (p.Glu296Gly) rs1669673209
NM_025150.5(TARS2):c.980G>A (p.Arg327Gln)
NM_025150.5(TARS2):c.983G>C (p.Gly328Ala)
R171K
TARS2, 1-BP DUP, NT988

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