ClinVar Miner

List of variants in gene FARS2, LOC126859565 studied for Combined oxidative phosphorylation defect type 14

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Total variants: 166
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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 0.00823
NM_006567.5(FARS2):c.468G>A (p.Thr156=) rs73718083 0.00382
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 0.00128
NM_006567.5(FARS2):c.267C>G (p.Ile89Met) rs143959504 0.00038
NM_006567.5(FARS2):c.462G>T (p.Ala154=) rs150477330 0.00035
NM_006567.5(FARS2):c.101C>T (p.Ser34Leu) rs148568494 0.00029
NM_006567.5(FARS2):c.509C>G (p.Ala170Gly) rs141568455 0.00023
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.323C>T (p.Pro108Leu) rs374957295 0.00017
NM_006567.5(FARS2):c.324G>A (p.Pro108=) rs139618748 0.00017
NM_006567.5(FARS2):c.70T>A (p.Ser24Thr) rs573996374 0.00009
NM_006567.5(FARS2):c.288C>T (p.His96=) rs201410497 0.00006
NM_006567.5(FARS2):c.310C>T (p.Arg104Cys) rs982485775 0.00006
NM_006567.5(FARS2):c.467C>T (p.Thr156Met) rs146988468 0.00006
NM_006567.5(FARS2):c.202C>T (p.Arg68Trp) rs374531453 0.00005
NM_006567.5(FARS2):c.461C>T (p.Ala154Val) rs749588235 0.00004
NM_006567.5(FARS2):c.497C>T (p.Ala166Val) rs538791135 0.00004
NM_006567.5(FARS2):c.545A>G (p.Gln182Arg) rs543217289 0.00004
NM_006567.5(FARS2):c.332C>T (p.Ser111Leu) rs369145259 0.00003
NM_006567.5(FARS2):c.344A>G (p.Asn115Ser) rs200731335 0.00003
NM_006567.5(FARS2):c.411C>A (p.Ser137Arg) rs761360080 0.00003
NM_006567.5(FARS2):c.443G>A (p.Arg148Gln) rs753004463 0.00003
NM_006567.5(FARS2):c.444G>T (p.Arg148=) rs548957605 0.00003
NM_006567.5(FARS2):c.213C>T (p.Leu71=) rs748813583 0.00002
NM_006567.5(FARS2):c.21G>T (p.Arg7Ser) rs764390927 0.00002
NM_006567.5(FARS2):c.259T>G (p.Trp87Gly) rs773187294 0.00002
NM_006567.5(FARS2):c.308G>T (p.Gly103Val) rs752460037 0.00002
NM_006567.5(FARS2):c.408C>T (p.Pro136=) rs917396515 0.00002
NM_006567.5(FARS2):c.409A>G (p.Ser137Gly) rs903869853 0.00002
NM_006567.5(FARS2):c.495C>T (p.His165=) rs761573935 0.00002
NM_006567.5(FARS2):c.496G>A (p.Ala166Thr) rs764932724 0.00002
NM_006567.5(FARS2):c.519G>C (p.Val173=) rs147754364 0.00002
NM_006567.5(FARS2):c.588C>T (p.Ala196=) rs138339047 0.00002
NM_006567.5(FARS2):c.589G>A (p.Val197Met) rs149605576 0.00002
NM_006567.5(FARS2):c.612+12G>A rs186634574 0.00002
NM_006567.5(FARS2):c.120G>A (p.Glu40=) rs761074033 0.00001
NM_006567.5(FARS2):c.128C>G (p.Thr43Ser) rs769031929 0.00001
NM_006567.5(FARS2):c.160C>T (p.Leu54=) rs1380230371 0.00001
NM_006567.5(FARS2):c.184G>A (p.Asp62Asn) rs780467389 0.00001
NM_006567.5(FARS2):c.203G>A (p.Arg68Gln) rs368352168 0.00001
NM_006567.5(FARS2):c.224G>T (p.Gly75Val) rs367691523 0.00001
NM_006567.5(FARS2):c.261G>A (p.Trp87Ter) rs1229314240 0.00001
NM_006567.5(FARS2):c.264G>A (p.Leu88=) rs377298153 0.00001
NM_006567.5(FARS2):c.312C>A (p.Arg104=) rs755776049 0.00001
NM_006567.5(FARS2):c.318G>A (p.Gly106=) rs140589763 0.00001
NM_006567.5(FARS2):c.333G>A (p.Ser111=) rs781723007 0.00001
NM_006567.5(FARS2):c.361A>G (p.Thr121Ala) rs1057519095 0.00001
NM_006567.5(FARS2):c.372G>A (p.Gln124=) rs566589950 0.00001
NM_006567.5(FARS2):c.375C>T (p.Asn125=) rs1173641601 0.00001
NM_006567.5(FARS2):c.477C>A (p.His159Gln) rs775340627 0.00001
NM_006567.5(FARS2):c.4G>T (p.Val2Leu) rs759961408 0.00001
NM_006567.5(FARS2):c.515T>C (p.Leu172Pro) rs754132045 0.00001
NM_006567.5(FARS2):c.539G>A (p.Arg180His) rs375460524 0.00001
NM_006567.5(FARS2):c.549C>T (p.Ile183=) rs776506015 0.00001
NM_006567.5(FARS2):c.562T>C (p.Tyr188His) rs1434464323 0.00001
NM_006567.5(FARS2):c.585G>A (p.Glu195=) rs764461862 0.00001
NM_006567.5(FARS2):c.586G>T (p.Ala196Ser) rs150490093 0.00001
NM_006567.5(FARS2):c.592C>T (p.Arg198Trp) rs1232483392 0.00001
NM_006567.5(FARS2):c.6G>A (p.Val2=) rs772379847 0.00001
NM_006567.5(FARS2):c.72C>T (p.Ser24=) rs894420718 0.00001
NM_006567.5(FARS2):c.80A>G (p.His27Arg) rs537850422 0.00001
NM_006567.5(FARS2):c.86A>G (p.His29Arg) rs754644366 0.00001
NC_000006.12:g.(?_5368551)_(5369202_?)del
NM_006567.5(FARS2):c.108T>C (p.Pro36=)
NM_006567.5(FARS2):c.113C>A (p.Ala38Glu)
NM_006567.5(FARS2):c.11C>G (p.Ser4Ter)
NM_006567.5(FARS2):c.120G>T (p.Glu40Asp) rs761074033
NM_006567.5(FARS2):c.125C>T (p.Ala42Val)
NM_006567.5(FARS2):c.126C>T (p.Ala42=)
NM_006567.5(FARS2):c.131A>G (p.Gln44Arg) rs1453046888
NM_006567.5(FARS2):c.138T>C (p.Ala46=) rs2127643010
NM_006567.5(FARS2):c.139C>T (p.Pro47Ser) rs201710092
NM_006567.5(FARS2):c.141A>G (p.Pro47=)
NM_006567.5(FARS2):c.146G>A (p.Ser49Asn) rs1758836861
NM_006567.5(FARS2):c.150G>A (p.Val50=) rs1448847094
NM_006567.5(FARS2):c.151G>C (p.Val51Leu)
NM_006567.5(FARS2):c.172T>C (p.Tyr58His) rs2127643060
NM_006567.5(FARS2):c.178C>T (p.Gln60Ter)
NM_006567.5(FARS2):c.17T>C (p.Leu6Pro) rs1758826838
NM_006567.5(FARS2):c.183C>G (p.Asp61Glu) rs73718082
NM_006567.5(FARS2):c.184G>T (p.Asp62Tyr) rs780467389
NM_006567.5(FARS2):c.192C>G (p.Ser64Arg) rs1554169280
NM_006567.5(FARS2):c.201C>G (p.Thr67=) rs1357700939
NM_006567.5(FARS2):c.204G>C (p.Arg68=)
NM_006567.5(FARS2):c.206A>G (p.Lys69Arg)
NM_006567.5(FARS2):c.207G>A (p.Lys69=)
NM_006567.5(FARS2):c.20G>A (p.Arg7Lys) rs2127642730
NM_006567.5(FARS2):c.230A>T (p.Asn77Ile) rs1758842999
NM_006567.5(FARS2):c.231C>T (p.Asn77=) rs777130213
NM_006567.5(FARS2):c.234G>T (p.Leu78=)
NM_006567.5(FARS2):c.251A>C (p.His84Pro) rs1758844499
NM_006567.5(FARS2):c.253C>G (p.Pro85Ala) rs770035560
NM_006567.5(FARS2):c.261G>C (p.Trp87Cys)
NM_006567.5(FARS2):c.262C>T (p.Leu88=)
NM_006567.5(FARS2):c.284A>G (p.Glu95Gly)
NM_006567.5(FARS2):c.28G>A (p.Ala10Thr) rs753993545
NM_006567.5(FARS2):c.28G>T (p.Ala10Ser) rs753993545
NM_006567.5(FARS2):c.294C>T (p.Tyr98=)
NM_006567.5(FARS2):c.296A>G (p.Lys99Arg)
NM_006567.5(FARS2):c.297G>T (p.Lys99Asn) rs2127643451
NM_006567.5(FARS2):c.298C>T (p.Gln100Ter) rs1428625375
NM_006567.5(FARS2):c.300G>A (p.Gln100=)
NM_006567.5(FARS2):c.308G>C (p.Gly103Ala) rs752460037
NM_006567.5(FARS2):c.311G>A (p.Arg104His)
NM_006567.5(FARS2):c.317G>T (p.Gly106Val)
NM_006567.5(FARS2):c.327G>A (p.Leu109=)
NM_006567.5(FARS2):c.333G>C (p.Ser111=)
NM_006567.5(FARS2):c.336C>T (p.Val112=) rs2127643553
NM_006567.5(FARS2):c.342C>T (p.Asp114=) rs2127643581
NM_006567.5(FARS2):c.354A>G (p.Pro118=) rs1554169338
NM_006567.5(FARS2):c.362C>T (p.Thr121Met) rs551537911
NM_006567.5(FARS2):c.364A>G (p.Thr122Ala) rs1758855175
NM_006567.5(FARS2):c.378T>C (p.Phe126=) rs2127643700
NM_006567.5(FARS2):c.382A>G (p.Ser128Gly) rs1758856343
NM_006567.5(FARS2):c.382A>T (p.Ser128Cys) rs1758856343
NM_006567.5(FARS2):c.388C>T (p.Leu130Phe)
NM_006567.5(FARS2):c.389T>G (p.Leu130Arg)
NM_006567.5(FARS2):c.390C>A (p.Leu130=) rs767424737
NM_006567.5(FARS2):c.3G>T (p.Met1Ile) rs2127642660
NM_006567.5(FARS2):c.403C>G (p.His135Asp) rs1554169353
NM_006567.5(FARS2):c.407C>T (p.Pro136Leu) rs199863563
NM_006567.5(FARS2):c.410G>C (p.Ser137Thr) rs1758859644
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.425del (p.Asp142fs) rs2127643855
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.441T>A (p.Asn147Lys) rs1758861816
NM_006567.5(FARS2):c.442C>T (p.Arg148Trp)
NM_006567.5(FARS2):c.445A>T (p.Thr149Ser)
NM_006567.5(FARS2):c.450C>T (p.His150=) rs2127643912
NM_006567.5(FARS2):c.453G>A (p.Met151Ile)
NM_006567.5(FARS2):c.455T>G (p.Leu152Arg) rs1758863348
NM_006567.5(FARS2):c.457A>G (p.Arg153Gly) rs1561990337
NM_006567.5(FARS2):c.462G>A (p.Ala154=) rs150477330
NM_006567.5(FARS2):c.474A>T (p.Ala158=)
NM_006567.5(FARS2):c.475C>T (p.His159Tyr)
NM_006567.5(FARS2):c.476A>C (p.His159Pro) rs1561990390
NM_006567.5(FARS2):c.486C>T (p.Asp162=)
NM_006567.5(FARS2):c.492G>A (p.Leu164=) rs374120685
NM_006567.5(FARS2):c.497dup (p.Leu168fs)
NM_006567.5(FARS2):c.498G>A (p.Ala166=)
NM_006567.5(FARS2):c.508G>A (p.Ala170Thr)
NM_006567.5(FARS2):c.513C>T (p.Phe171=)
NM_006567.5(FARS2):c.515TGG[2] (p.Val174del) rs1554169392
NM_006567.5(FARS2):c.528T>C (p.Asp176=)
NM_006567.5(FARS2):c.530T>A (p.Val177Asp) rs1561990552
NM_006567.5(FARS2):c.546G>A (p.Gln182=) rs1581905336
NM_006567.5(FARS2):c.555C>T (p.Ser185=)
NM_006567.5(FARS2):c.559C>G (p.His187Asp) rs1758874173
NM_006567.5(FARS2):c.563A>G (p.Tyr188Cys) rs1554169419
NM_006567.5(FARS2):c.575A>C (p.His192Pro) rs1758876342
NM_006567.5(FARS2):c.578A>G (p.Gln193Arg) rs1561990721
NM_006567.5(FARS2):c.597C>G (p.Leu199=)
NM_006567.5(FARS2):c.600C>T (p.Phe200=) rs1758879374
NM_006567.5(FARS2):c.612+19C>A rs2127644483
NM_006567.5(FARS2):c.68T>A (p.Ile23Asn) rs1348616908
NM_006567.5(FARS2):c.7G>A (p.Gly3Ser)
NM_006567.5(FARS2):c.84G>A (p.Gln28=) rs2127642856
NM_006567.5(FARS2):c.91G>A (p.Ala31Thr) rs556195502
NM_006567.5(FARS2):c.94T>A (p.Trp32Arg) rs1259085373

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