ClinVar Miner

List of variants reported as likely pathogenic for combined oxidative phosphorylation defect type 14

Included ClinVar conditions (2):
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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_006567.5(FARS2):c.667C>T (p.Arg223Cys) rs202060864 0.00028
NM_006567.5(FARS2):c.1082C>T (p.Pro361Leu) rs751459058 0.00011
NM_006567.5(FARS2):c.467C>T (p.Thr156Met) rs146988468 0.00006
NM_006567.5(FARS2):c.589G>A (p.Val197Met) rs149605576 0.00002
NM_006567.5(FARS2):c.1172A>T (p.Asp391Val) rs397514612 0.00001
NM_006567.5(FARS2):c.986T>C (p.Ile329Thr) rs397514611 0.00001
NC_000006.11:g.(?_5404755)_(5404954_?)dup
NC_000006.11:g.(?_5545393)_(5545593_?)dup
NC_000006.11:g.(?_5613382)_(5613573_?)dup
NC_000006.11:g.5193615_5281296del
NC_000006.11:g.5262296_5395849del133554
NM_006567.5(FARS2):c.1156C>G (p.Arg386Gly) rs770597592
NM_006567.5(FARS2):c.1163T>G (p.Ile388Ser) rs1407198979
NM_006567.5(FARS2):c.1244G>A (p.Arg415His)
NM_006567.5(FARS2):c.1256G>T (p.Arg419Leu) rs202183509
NM_006567.5(FARS2):c.1269_1276dup (p.Ser426Ter) rs1561847309
NM_006567.5(FARS2):c.192C>G (p.Ser64Arg) rs1554169280
NM_006567.5(FARS2):c.253C>G (p.Pro85Ala) rs770035560
NM_006567.5(FARS2):c.403C>G (p.His135Asp) rs1554169353
NM_006567.5(FARS2):c.424G>A (p.Asp142Asn) rs145555213
NM_006567.5(FARS2):c.425A>G (p.Asp142Gly) rs2127643852
NM_006567.5(FARS2):c.431A>G (p.Tyr144Cys) rs397514610
NM_006567.5(FARS2):c.457A>G (p.Arg153Gly) rs1561990337
NM_006567.5(FARS2):c.530T>A (p.Val177Asp) rs1561990552
NM_006567.5(FARS2):c.613-2A>G
NM_006567.5(FARS2):c.821_824del (p.Ser274fs)
NM_006567.5(FARS2):c.905-1G>A rs1298860043
NM_006567.5(FARS2):c.925G>A (p.Gly309Ser) rs746746116
NM_006567.5(FARS2):c.925G>C (p.Gly309Arg)
NM_006567.5(FARS2):c.973G>T (p.Asp325Tyr) rs764427452

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