ClinVar Miner

List of variants in gene combination FARS2, LOC126859565 reported as likely benign for Combined oxidative phosphorylation defect type 14

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Total variants: 61
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HGVS dbSNP gnomAD frequency
NM_006567.5(FARS2):c.170C>G (p.Ser57Cys) rs34382405 0.00823
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.324G>A (p.Pro108=) rs139618748 0.00017
NM_006567.5(FARS2):c.497C>T (p.Ala166Val) rs538791135 0.00004
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.408C>T (p.Pro136=) rs917396515 0.00002
NM_006567.5(FARS2):c.495C>T (p.His165=) rs761573935 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.612+12G>A rs186634574 0.00002
NM_006567.5(FARS2):c.120G>A (p.Glu40=) rs761074033 0.00001
NM_006567.5(FARS2):c.160C>T (p.Leu54=) rs1380230371 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.372G>A (p.Gln124=) rs566589950 0.00001
NM_006567.5(FARS2):c.375C>T (p.Asn125=) rs1173641601 0.00001
NM_006567.5(FARS2):c.549C>T (p.Ile183=) rs776506015 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.108T>C (p.Pro36=)
NM_006567.5(FARS2):c.126C>T (p.Ala42=)
NM_006567.5(FARS2):c.138T>C (p.Ala46=) rs2127643010
NM_006567.5(FARS2):c.141A>G (p.Pro47=)
NM_006567.5(FARS2):c.150G>A (p.Val50=) rs1448847094
NM_006567.5(FARS2):c.201C>G (p.Thr67=) rs1357700939
NM_006567.5(FARS2):c.204G>C (p.Arg68=)
NM_006567.5(FARS2):c.207G>A (p.Lys69=)
NM_006567.5(FARS2):c.231C>T (p.Asn77=) rs777130213
NM_006567.5(FARS2):c.234G>T (p.Leu78=)
NM_006567.5(FARS2):c.262C>T (p.Leu88=)
NM_006567.5(FARS2):c.294C>T (p.Tyr98=)
NM_006567.5(FARS2):c.300G>A (p.Gln100=)
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.378T>C (p.Phe126=) rs2127643700
NM_006567.5(FARS2):c.390C>A (p.Leu130=) rs767424737
NM_006567.5(FARS2):c.450C>T (p.His150=) rs2127643912
NM_006567.5(FARS2):c.474A>T (p.Ala158=)
NM_006567.5(FARS2):c.486C>T (p.Asp162=)
NM_006567.5(FARS2):c.492G>A (p.Leu164=) rs374120685
NM_006567.5(FARS2):c.498G>A (p.Ala166=)
NM_006567.5(FARS2):c.513C>T (p.Phe171=)
NM_006567.5(FARS2):c.528T>C (p.Asp176=)
NM_006567.5(FARS2):c.546G>A (p.Gln182=) rs1581905336
NM_006567.5(FARS2):c.555C>T (p.Ser185=)
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.84G>A (p.Gln28=) rs2127642856

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