ClinVar Miner

List of variants studied for Combined oxidative phosphorylation defect type 14 by Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine

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Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_006567.5(FARS2):c.339C>T (p.Tyr113=) rs41302853 0.02609
NM_006567.5(FARS2):c.102G>A (p.Ser34=) rs113155624 0.00836
NM_006567.5(FARS2):c.170C>G (p.Ser57Cys) rs34382405 0.00761
NM_006567.5(FARS2):c.737C>T (p.Thr246Met) rs116567033 0.00450
NM_006567.5(FARS2):c.468G>A (p.Thr156=) rs73718083 0.00355
NM_006567.5(FARS2):c.183C>T (p.Asp61=) rs73718082 0.00156
NM_006567.5(FARS2):c.506A>T (p.Asp169Val) rs146356199 0.00141
NM_006567.5(FARS2):c.606G>A (p.Lys202=) rs17851782 0.00124
NM_006567.5(FARS2):c.462G>T (p.Ala154=) rs150477330 0.00035
NM_006567.5(FARS2):c.407C>A (p.Pro136His) rs199863563 0.00022
NM_006567.5(FARS2):c.550G>A (p.Asp184Asn) rs554931092 0.00019
NM_006567.5(FARS2):c.1268G>A (p.Arg423Gln) rs148921184 0.00015
NM_006567.5(FARS2):c.873C>T (p.Cys291=) rs372301183 0.00013
NM_006567.5(FARS2):c.1014C>T (p.Arg338=) rs41302855 0.00011
NM_006567.5(FARS2):c.1082C>T (p.Pro361Leu) rs751459058 0.00011
NM_006567.5(FARS2):c.*4C>T rs200232967 0.00008
NM_006567.5(FARS2):c.768A>C (p.Gly256=) rs200003967 0.00007
NM_006567.5(FARS2):c.819T>A (p.Pro273=) rs201042275 0.00007
NM_006567.5(FARS2):c.467C>T (p.Thr156Met) rs146988468 0.00006
NM_006567.5(FARS2):c.984T>C (p.Asp328=) rs201390927 0.00005
NM_006567.5(FARS2):c.1094A>G (p.Asn365Ser) rs373811519 0.00004
NM_006567.5(FARS2):c.676C>T (p.His226Tyr) rs201991648 0.00004
NM_006567.5(FARS2):c.310C>T (p.Arg104Cys) rs982485775 0.00003
NM_006567.5(FARS2):c.332C>T (p.Ser111Leu) rs369145259 0.00003
NM_006567.5(FARS2):c.706G>A (p.Val236Met) rs369015058 0.00003
NM_006567.5(FARS2):c.1054G>T (p.Val352Leu) rs1360751755 0.00001
NM_006567.5(FARS2):c.1083G>A (p.Pro361=) rs762103254 0.00001
NM_006567.5(FARS2):c.1172A>T (p.Asp391Val) rs397514612 0.00001
NM_006567.5(FARS2):c.1296C>T (p.His432=) rs1261704455 0.00001
NM_006567.5(FARS2):c.354A>G (p.Pro118=) rs1554169338 0.00001
NM_006567.5(FARS2):c.585G>A (p.Glu195=) rs764461862 0.00001
NM_006567.5(FARS2):c.613-11T>C rs1562015282 0.00001
NM_006567.5(FARS2):c.638A>G (p.Glu213Gly) rs1044543244 0.00001
NM_006567.5(FARS2):c.986T>C (p.Ile329Thr) rs397514611 0.00001
NC_000006.11:g.5193615_5281296del
NC_000006.11:g.5262296_5395849del133554
NM_006567.5(FARS2):c.1066-15C>G rs769574194
NM_006567.5(FARS2):c.1145A>G (p.Tyr382Cys) rs1472285290
NM_006567.5(FARS2):c.1156C>G (p.Arg386Gly) rs770597592
NM_006567.5(FARS2):c.1344G>A (p.Glu448=) rs945267016
NM_006567.5(FARS2):c.253C>G (p.Pro85Ala) rs770035560
NM_006567.5(FARS2):c.28G>T (p.Ala10Ser) rs753993545
NM_006567.5(FARS2):c.390C>A (p.Leu130=) rs767424737
NM_006567.5(FARS2):c.403C>G (p.His135Asp) rs1554169353
NM_006567.5(FARS2):c.426C>A (p.Asp142Glu) rs1561990280
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.476A>C (p.His159Pro) rs1561990390
NM_006567.5(FARS2):c.530T>A (p.Val177Asp) rs1561990552
NM_006567.5(FARS2):c.748C>T (p.Leu250Phe) rs1562015600
NM_006567.5(FARS2):c.839A>G (p.Asn280Ser) rs11243011
NM_006567.5(FARS2):c.905-1G>A rs1298860043
NM_006567.5(FARS2):c.925G>A (p.Gly309Ser) rs746746116
NM_006567.5(FARS2):c.973G>T (p.Asp325Tyr) rs764427452

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