ClinVar Miner

List of variants reported as likely benign for Combined oxidative phosphorylation defect type 14

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 160
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006567.5(FARS2):c.170C>G (p.Ser57Cys) rs34382405 0.00823
NM_006567.5(FARS2):c.737C>T (p.Thr246Met) rs116567033 0.00455
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.1128C>T (p.Tyr376=) rs139204875 0.00057
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.1273C>T (p.Leu425=) rs143662929 0.00015
NM_006567.5(FARS2):c.873C>T (p.Cys291=) rs372301183 0.00013
NM_006567.5(FARS2):c.1014C>T (p.Arg338=) rs41302855 0.00012
NM_006567.5(FARS2):c.781A>G (p.Ile261Val) rs201927340 0.00010
NM_006567.5(FARS2):c.1209A>G (p.Val403=) rs147628137 0.00007
NM_006567.5(FARS2):c.621T>G (p.Ala207=) rs555096870 0.00006
NM_006567.5(FARS2):c.705C>T (p.Ala235=) rs766636921 0.00006
NM_006567.5(FARS2):c.775C>T (p.Leu259=) rs746201644 0.00006
NM_006567.5(FARS2):c.819T>A (p.Pro273=) rs201042275 0.00006
NM_006567.5(FARS2):c.672T>C (p.Ser224=) rs773811639 0.00005
NM_006567.5(FARS2):c.696C>T (p.Thr232=) rs190712413 0.00005
NM_006567.5(FARS2):c.954G>A (p.Arg318=) rs764877564 0.00005
NM_006567.5(FARS2):c.984T>C (p.Asp328=) rs201390927 0.00005
NM_006567.5(FARS2):c.497C>T (p.Ala166Val) rs538791135 0.00004
NM_006567.5(FARS2):c.675G>A (p.Ala225=) rs370034437 0.00004
NM_006567.5(FARS2):c.676C>T (p.His226Tyr) rs201991648 0.00004
NM_006567.5(FARS2):c.768A>C (p.Gly256=) rs200003967 0.00004
NM_006567.5(FARS2):c.837C>T (p.Ile279=) rs766146229 0.00004
NM_006567.5(FARS2):c.1008C>T (p.Asp336=) rs145770549 0.00003
NM_006567.5(FARS2):c.1066-9T>G rs748955008 0.00003
NM_006567.5(FARS2):c.1221G>A (p.Thr407=) rs984460938 0.00003
NM_006567.5(FARS2):c.444G>T (p.Arg148=) rs548957605 0.00003
NM_006567.5(FARS2):c.1051A>C (p.Lys351Gln) rs748818657 0.00002
NM_006567.5(FARS2):c.1230C>T (p.Thr410=) rs142426372 0.00002
NM_006567.5(FARS2):c.1280A>G (p.Gln427Arg) rs778281728 0.00002
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.924C>T (p.Ile308=) rs775382064 0.00002
NM_006567.5(FARS2):c.1001G>A (p.Cys334Tyr) rs745888157 0.00001
NM_006567.5(FARS2):c.1011G>A (p.Glu337=) rs932539318 0.00001
NM_006567.5(FARS2):c.1066-12_1066-11del rs1424235482 0.00001
NM_006567.5(FARS2):c.1083G>A (p.Pro361=) rs762103254 0.00001
NM_006567.5(FARS2):c.120G>A (p.Glu40=) rs761074033 0.00001
NM_006567.5(FARS2):c.1251G>A (p.Thr417=) rs189168256 0.00001
NM_006567.5(FARS2):c.1296C>T (p.His432=) rs1261704455 0.00001
NM_006567.5(FARS2):c.1308C>G (p.Ala436=) rs965780712 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.735A>G (p.Gln245=) rs752801499 0.00001
NM_006567.5(FARS2):c.774G>A (p.Glu258=) rs1274777348 0.00001
NM_006567.5(FARS2):c.786A>G (p.Arg262=) rs1763132563 0.00001
NM_006567.5(FARS2):c.894G>A (p.Leu298=) rs1470539531 0.00001
NM_006567.5(FARS2):c.904+9G>C rs201412926 0.00001
NM_006567.5(FARS2):c.905-5C>T rs1386174055 0.00001
NM_006567.5(FARS2):c.957A>G (p.Leu319=) rs1015994762 0.00001
NM_006567.5(FARS2):c.972C>T (p.Tyr324=) rs150789146 0.00001
NM_006567.5(FARS2):c.993C>G (p.Leu331=) rs370814907 0.00001
NM_006567.5(FARS2):c.1041C>T (p.Asn347=) rs769518528
NM_006567.5(FARS2):c.1044T>C (p.Ile348=) rs2150500866
NM_006567.5(FARS2):c.1057A>C (p.Lys353Gln) rs762302341
NM_006567.5(FARS2):c.1065+14C>G rs1445115531
NM_006567.5(FARS2):c.1066-10G>A rs1775278247
NM_006567.5(FARS2):c.1066-12T>A rs1479548485
NM_006567.5(FARS2):c.1066-12T>C
NM_006567.5(FARS2):c.1066-13C>T rs777232308
NM_006567.5(FARS2):c.1066-15C>G rs769574194
NM_006567.5(FARS2):c.1066-15C>T
NM_006567.5(FARS2):c.1066-17T>C
NM_006567.5(FARS2):c.1066-19T>C rs1561752216
NM_006567.5(FARS2):c.1066-5G>T
NM_006567.5(FARS2):c.1066-7_1066-3del rs1775278085
NM_006567.5(FARS2):c.108T>C (p.Pro36=)
NM_006567.5(FARS2):c.1092C>T (p.Ile364=)
NM_006567.5(FARS2):c.1116C>T (p.Pro372=) rs2150673615
NM_006567.5(FARS2):c.1200C>T (p.Asp400=) rs2150673934
NM_006567.5(FARS2):c.1218-5T>C rs1014916887
NM_006567.5(FARS2):c.1218-7T>C rs2150990567
NM_006567.5(FARS2):c.1267C>A (p.Arg423=)
NM_006567.5(FARS2):c.1269G>T (p.Arg423=) rs758019336
NM_006567.5(FARS2):c.126C>T (p.Ala42=)
NM_006567.5(FARS2):c.1293G>A (p.Arg431=) rs749743875
NM_006567.5(FARS2):c.1344G>A (p.Glu448=) rs945267016
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.613-10T>G
NM_006567.5(FARS2):c.613-11T>C rs1562015282
NM_006567.5(FARS2):c.613-13T>C
NM_006567.5(FARS2):c.613-15C>A
NM_006567.5(FARS2):c.613-18T>C
NM_006567.5(FARS2):c.613-4A>G rs1554181180
NM_006567.5(FARS2):c.613-9G>C
NM_006567.5(FARS2):c.651C>G (p.Leu217=)
NM_006567.5(FARS2):c.726T>C (p.Asp242=)
NM_006567.5(FARS2):c.738G>A (p.Thr246=)
NM_006567.5(FARS2):c.750C>A (p.Leu250=) rs951916099
NM_006567.5(FARS2):c.750C>T (p.Leu250=)
NM_006567.5(FARS2):c.768A>G (p.Gly256=)
NM_006567.5(FARS2):c.772+11A>T
NM_006567.5(FARS2):c.772+20T>C
NM_006567.5(FARS2):c.772+7G>A
NM_006567.5(FARS2):c.773-17C>T
NM_006567.5(FARS2):c.773-7T>C
NM_006567.5(FARS2):c.773-9A>C
NM_006567.5(FARS2):c.804C>T (p.Phe268=)
NM_006567.5(FARS2):c.846T>C (p.His282=)
NM_006567.5(FARS2):c.84G>A (p.Gln28=) rs2127642856
NM_006567.5(FARS2):c.852A>G (p.Glu284=) rs772624228
NM_006567.5(FARS2):c.858G>A (p.Leu286=) rs1763139178
NM_006567.5(FARS2):c.876G>A (p.Gly292=)
NM_006567.5(FARS2):c.904+11A>T
NM_006567.5(FARS2):c.904+16A>G
NM_006567.5(FARS2):c.904+16del rs773225879
NM_006567.5(FARS2):c.904+9G>T rs201412926
NM_006567.5(FARS2):c.905-20A>C
NM_006567.5(FARS2):c.906T>G (p.Ala302=) rs1770885830
NM_006567.5(FARS2):c.933T>C (p.Ala311=) rs1770889954
NM_006567.5(FARS2):c.936T>C (p.Phe312=)
NM_006567.5(FARS2):c.945A>G (p.Gly315=) rs1057522221
NM_006567.5(FARS2):c.955C>T (p.Leu319=) rs772822506

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.