ClinVar Miner

List of variants in gene TARS2 reported as likely pathogenic for Combined oxidative phosphorylation defect type 21

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_025150.5(TARS2):c.773C>T (p.Ser258Leu) rs145039072 0.00040
NM_025150.5(TARS2):c.1354C>T (p.Arg452Trp) rs146503501 0.00027
NM_025150.5(TARS2):c.1285C>T (p.Arg429Ter) rs1382181446 0.00003
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.1255C>T (p.Arg419Trp) rs778133443 0.00001
NM_025150.5(TARS2):c.1318G>A (p.Glu440Lys) rs781477512 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.695+3A>G rs587777594 0.00001
NM_025150.5(TARS2):c.980G>A (p.Arg327Gln) rs367984492 0.00001
NM_025150.5(TARS2):c.1026G>C (p.Glu342Asp) rs371727967
NM_025150.5(TARS2):c.1274A>G (p.Glu425Gly) rs2102494691
NM_025150.5(TARS2):c.1678G>C (p.Asp560His) rs2102510285
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) rs2526263331
NM_025150.5(TARS2):c.774+5G>T rs2526278171
NM_025150.5(TARS2):c.845C>T (p.Pro282Leu) rs587777593
NM_025150.5(TARS2):c.996T>G (p.Tyr332Ter)

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