ClinVar Miner

List of variants in gene FARS2 reported as pathogenic for combined oxidative phosphorylation defect type 14

Included ClinVar conditions (2):
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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_006567.5(FARS2):c.1082C>T (p.Pro361Leu) rs751459058 0.00011
NM_006567.5(FARS2):c.792del (p.Asp265fs) rs761097220 0.00011
NM_006567.5(FARS2):c.919C>T (p.Arg307Ter) rs148620369 0.00005
NM_006567.5(FARS2):c.989G>A (p.Arg330His) rs863223957 0.00005
NM_006567.5(FARS2):c.1156C>T (p.Arg386Ter) rs770597592 0.00001
NM_006567.5(FARS2):c.1172A>T (p.Asp391Val) rs397514612 0.00001
NM_006567.5(FARS2):c.1255C>T (p.Arg419Cys) rs775690041 0.00001
NM_006567.5(FARS2):c.1256G>A (p.Arg419His) rs202183509 0.00001
NM_006567.5(FARS2):c.646C>T (p.Gln216Ter) rs1057523346 0.00001
NM_006567.5(FARS2):c.812del (p.Thr271fs) rs1429774361 0.00001
NM_006567.5(FARS2):c.986T>C (p.Ile329Thr) rs397514611 0.00001
GRCh37/hg19 6p25.1(chr6:5545413-5545573)
NC_000006.11:g.(?_5339261)_(5404834_?)del
NC_000006.11:g.(?_5368784)_(5545593_?)del
NC_000006.11:g.(?_5368804)_(5369425_?)del
NC_000006.11:g.(?_5368804)_(5369435_?)del
NC_000006.11:g.(?_5368804)_(5404954_?)del
NC_000006.11:g.(?_5404755)_(5431425_?)del
NC_000006.11:g.(?_5404755)_(5545593_?)del
NC_000006.11:g.(?_5431254)_(5653711_?)del
NC_000006.11:g.(?_5545403)_(5545583_?)del
NC_000006.12:g.(?_5404522)_(5404721_?)del
NC_000006.12:g.(?_5545160)_(5545360_?)del
NM_006567.5(FARS2):c.1109_1111delinsAACCAGAATGAA (p.Trp370_Leu371delinsTer) rs1554116357
NM_006567.5(FARS2):c.1110G>A (p.Trp370Ter)
NM_006567.5(FARS2):c.1113G>T (p.Leu371Phe) rs1204079767
NM_006567.5(FARS2):c.1218-73_1289delinsC
NM_006567.5(FARS2):c.1269_1276dup (p.Ser426Ter) rs1561847309
NM_006567.5(FARS2):c.593G>T (p.Arg198Leu)
NM_006567.5(FARS2):c.694del (p.Thr232fs) rs2127718679
NM_006567.5(FARS2):c.801C>G (p.Tyr267Ter) rs761709212
NM_006567.5(FARS2):c.877del (p.Gly292_Val293insTer) rs2127767975
NM_006567.5(FARS2):c.886C>T (p.Gln296Ter) rs1414534588
NM_006567.5(FARS2):c.925G>A (p.Gly309Ser) rs746746116
NM_006567.5(FARS2):c.929G>A (p.Trp310Ter)
NM_006567.5(FARS2):c.946_950del (p.Leu316fs) rs1322974029
NM_006567.5(FARS2):c.973G>T (p.Asp325Tyr) rs764427452
NM_006567.5(FARS2):c.999G>A (p.Trp333Ter) rs753467517
NM_006567.5:c.(?_-4)_(612+185_613-1)del

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