ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_006567.5(FARS2):c.407C>A (p.Pro136His) rs199863563 0.00022
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.467C>T (p.Thr156Met) rs146988468 0.00006
NM_006567.5(FARS2):c.919C>T (p.Arg307Ter) rs148620369 0.00005
NM_006567.5(FARS2):c.1156C>T (p.Arg386Ter) rs770597592 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.261G>A (p.Trp87Ter) rs1229314240 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
NC_000006.11:g.(?_5109657)_(6320826_?)del
NC_000006.11:g.(?_5216831)_(5431425_?)del
NC_000006.11:g.(?_5260861)_(5369435_?)del
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.(?_5368551)_(5369202_?)del
NC_000006.12:g.(?_5368551)_(5431192_?)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.11C>G (p.Ser4Ter)
NM_006567.5(FARS2):c.1218-73_1289delinsC
NM_006567.5(FARS2):c.178C>T (p.Gln60Ter)
NM_006567.5(FARS2):c.298C>T (p.Gln100Ter) rs1428625375
NM_006567.5(FARS2):c.3G>T (p.Met1Ile) rs2127642660
NM_006567.5(FARS2):c.425del (p.Asp142fs) rs2127643855
NM_006567.5(FARS2):c.431A>G (p.Tyr144Cys) rs397514610
NM_006567.5(FARS2):c.497dup (p.Leu168fs)
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.999G>A (p.Trp333Ter) rs753467517

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