ClinVar Miner

List of variants reported as uncertain significance for combined oxidative phosphorylation defect type 14

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 202
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006567.5(FARS2):c.506A>T (p.Asp169Val) rs146356199 0.00141
NM_006567.5(FARS2):c.971A>G (p.Tyr324Cys) rs142073519 0.00052
NM_006567.5(FARS2):c.667C>T (p.Arg223Cys) rs202060864 0.00028
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.1069C>T (p.Leu357Phe) rs370983000 0.00016
NM_006567.5(FARS2):c.1268G>A (p.Arg423Gln) rs148921184 0.00016
NM_006567.5(FARS2):c.920G>A (p.Arg307Gln) rs771882917 0.00011
NM_006567.5(FARS2):c.1009G>A (p.Glu337Lys) rs779793214 0.00010
NM_006567.5(FARS2):c.1013G>A (p.Arg338His) rs746837108 0.00009
NM_006567.5(FARS2):c.70T>A (p.Ser24Thr) rs573996374 0.00009
NM_006567.5(FARS2):c.973G>A (p.Asp325Asn) rs764427452 0.00007
NM_006567.5(FARS2):c.1220C>T (p.Thr407Met) rs372054960 0.00006
NM_006567.5(FARS2):c.310C>T (p.Arg104Cys) rs982485775 0.00006
NM_006567.5(FARS2):c.882G>C (p.Met294Ile) rs886256686 0.00006
NM_006567.5(FARS2):c.202C>T (p.Arg68Trp) rs374531453 0.00005
NM_006567.5(FARS2):c.874G>A (p.Gly292Arg) rs747278433 0.00005
NM_006567.5(FARS2):c.989G>A (p.Arg330His) rs863223957 0.00005
NM_006567.5(FARS2):c.1094A>G (p.Asn365Ser) rs373811519 0.00004
NM_006567.5(FARS2):c.1129G>A (p.Ala377Thr) rs145186610 0.00004
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.674C>T (p.Ala225Val) rs745400923 0.00004
NM_006567.5(FARS2):c.676C>T (p.His226Tyr) rs201991648 0.00004
NM_006567.5(FARS2):c.904G>T (p.Ala302Ser) rs375858088 0.00004
NM_006567.5(FARS2):c.*4C>T rs200232967 0.00003
NM_006567.5(FARS2):c.1267C>T (p.Arg423Trp) rs145697325 0.00003
NM_006567.5(FARS2):c.128C>G (p.Thr43Ser) rs769031929 0.00003
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.706G>A (p.Val236Met) rs369015058 0.00003
NM_006567.5(FARS2):c.730A>C (p.Lys244Gln) rs767530718 0.00003
NM_006567.5(FARS2):c.754G>A (p.Ala252Thr) rs371390356 0.00003
NM_006567.5(FARS2):c.755C>G (p.Ala252Gly) rs1047260982 0.00003
NM_006567.5(FARS2):c.1293G>T (p.Arg431Ser) rs749743875 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.409A>G (p.Ser137Gly) rs903869853 0.00002
NM_006567.5(FARS2):c.496G>A (p.Ala166Thr) rs764932724 0.00002
NM_006567.5(FARS2):c.771T>C (p.Asp257=) rs779590953 0.00002
NM_006567.5(FARS2):c.1012C>A (p.Arg338Ser) rs1167684566 0.00001
NM_006567.5(FARS2):c.1054G>T (p.Val352Leu) rs1360751755 0.00001
NM_006567.5(FARS2):c.1064A>G (p.Gln355Arg) rs775918126 0.00001
NM_006567.5(FARS2):c.1157G>A (p.Arg386Gln) rs778309551 0.00001
NM_006567.5(FARS2):c.1163T>C (p.Ile388Thr) rs1407198979 0.00001
NM_006567.5(FARS2):c.1243C>T (p.Arg415Cys) rs759833179 0.00001
NM_006567.5(FARS2):c.1282A>G (p.Arg428Gly) rs1339803692 0.00001
NM_006567.5(FARS2):c.1312C>G (p.Gln438Glu) rs1477908693 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.361A>G (p.Thr121Ala) rs1057519095 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.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.625A>G (p.Ile209Val) rs764360302 0.00001
NM_006567.5(FARS2):c.638A>G (p.Glu213Gly) rs1044543244 0.00001
NM_006567.5(FARS2):c.649C>G (p.Leu217Val) rs756084801 0.00001
NM_006567.5(FARS2):c.668G>A (p.Arg223His) rs770650914 0.00001
NM_006567.5(FARS2):c.692A>T (p.His231Leu) rs137910005 0.00001
NM_006567.5(FARS2):c.704C>T (p.Ala235Val) rs763234952 0.00001
NM_006567.5(FARS2):c.751A>G (p.Met251Val) rs753691420 0.00001
NM_006567.5(FARS2):c.752T>C (p.Met251Thr) rs377582332 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
NM_006567.5(FARS2):c.905C>T (p.Ala302Val) rs777903820 0.00001
NM_006567.5(FARS2):c.916G>T (p.Asp306Tyr) rs1354821900 0.00001
NM_006567.5(FARS2):c.958G>T (p.Ala320Ser) rs767870566 0.00001
NM_006567.5(FARS2):c.961A>G (p.Met321Val) rs1405389231 0.00001
NM_006567.5(FARS2):c.988C>T (p.Arg330Cys) rs757442324 0.00001
NM_006567.5(FARS2):c.997T>A (p.Trp333Arg) rs1257634772 0.00001
NC_000006.11:g.(?_5109657)_(5369435_?)dup
NC_000006.11:g.(?_5109657)_(5404954_?)dup
NC_000006.11:g.(?_5368804)_(5404954_?)dup
NC_000006.11:g.(?_5368804)_(5613573_?)dup
NC_000006.11:g.(?_5431254)_(5431425_?)del
NC_000006.11:g.(?_5431254)_(5431425_?)dup
NC_000006.11:g.(?_5771504)_(5771662_?)del
NC_000006.11:g.(?_5771504)_(5771682_?)dup
NC_000006.11:g.(?_5771504)_(6182394_?)dup
NM_006567.5(FARS2):c.1006G>A (p.Asp336Asn) rs1770899112
NM_006567.5(FARS2):c.1012C>T (p.Arg338Cys) rs1167684566
NM_006567.5(FARS2):c.1050G>C (p.Gln350His) rs2150500869
NM_006567.5(FARS2):c.1058A>G (p.Lys353Arg) rs2150500894
NM_006567.5(FARS2):c.1084G>A (p.Ala362Thr)
NM_006567.5(FARS2):c.1084G>T (p.Ala362Ser) rs1775281586
NM_006567.5(FARS2):c.1093A>C (p.Asn365His)
NM_006567.5(FARS2):c.1122G>T (p.Glu374Asp)
NM_006567.5(FARS2):c.1126T>C (p.Tyr376His)
NM_006567.5(FARS2):c.113C>A (p.Ala38Glu)
NM_006567.5(FARS2):c.1145A>G (p.Tyr382Cys) rs1472285290
NM_006567.5(FARS2):c.1154T>C (p.Val385Ala)
NM_006567.5(FARS2):c.1156C>G (p.Arg386Gly) rs770597592
NM_006567.5(FARS2):c.1168_1173del (p.Gly390_Asp391del)
NM_006567.5(FARS2):c.1181A>G (p.Glu394Gly) rs2150673873
NM_006567.5(FARS2):c.1186G>A (p.Val396Ile) rs1036424702
NM_006567.5(FARS2):c.1193T>A (p.Leu398His)
NM_006567.5(FARS2):c.1199A>G (p.Asp400Gly) rs1775290736
NM_006567.5(FARS2):c.1208T>C (p.Val403Ala) rs1775291062
NM_006567.5(FARS2):c.120G>T (p.Glu40Asp) rs761074033
NM_006567.5(FARS2):c.1210C>T (p.His404Tyr) rs367693160
NM_006567.5(FARS2):c.1212T>A (p.His404Gln) rs1582585768
NM_006567.5(FARS2):c.1213C>T (p.Pro405Ser) rs1775291666
NM_006567.5(FARS2):c.1217+4A>G rs2150673989
NM_006567.5(FARS2):c.1217A>G (p.Lys406Arg) rs1775291811
NM_006567.5(FARS2):c.1218-9T>A rs748697780
NM_006567.5(FARS2):c.1218G>A (p.Lys406=)
NM_006567.5(FARS2):c.1250C>T (p.Thr417Met) rs1000376824
NM_006567.5(FARS2):c.125C>T (p.Ala42Val)
NM_006567.5(FARS2):c.1261A>G (p.Met421Val) rs757022549
NM_006567.5(FARS2):c.1262T>C (p.Met421Thr)
NM_006567.5(FARS2):c.1271C>G (p.Thr424Ser)
NM_006567.5(FARS2):c.1289T>C (p.Val430Ala) rs1763040456
NM_006567.5(FARS2):c.1306G>A (p.Ala436Thr) rs1195724097
NM_006567.5(FARS2):c.1312C>A (p.Gln438Lys)
NM_006567.5(FARS2):c.131A>G (p.Gln44Arg) rs1453046888
NM_006567.5(FARS2):c.1345G>C (p.Gly449Arg)
NM_006567.5(FARS2):c.139C>T (p.Pro47Ser) rs201710092
NM_006567.5(FARS2):c.146G>A (p.Ser49Asn) rs1758836861
NM_006567.5(FARS2):c.151G>C (p.Val51Leu)
NM_006567.5(FARS2):c.172T>C (p.Tyr58His) rs2127643060
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.206A>G (p.Lys69Arg)
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.253C>G (p.Pro85Ala) rs770035560
NM_006567.5(FARS2):c.261G>C (p.Trp87Cys)
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.296A>G (p.Lys99Arg)
NM_006567.5(FARS2):c.297G>T (p.Lys99Asn) rs2127643451
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.362C>T (p.Thr121Met) rs551537911
NM_006567.5(FARS2):c.364A>G (p.Thr122Ala) rs1758855175
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.407C>T (p.Pro136Leu) rs199863563
NM_006567.5(FARS2):c.410G>C (p.Ser137Thr) rs1758859644
NM_006567.5(FARS2):c.426C>A (p.Asp142Glu) rs1561990280
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.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.475C>T (p.His159Tyr)
NM_006567.5(FARS2):c.476A>C (p.His159Pro) rs1561990390
NM_006567.5(FARS2):c.508G>A (p.Ala170Thr)
NM_006567.5(FARS2):c.515TGG[2] (p.Val174del) rs1554169392
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.619G>T (p.Ala207Ser)
NM_006567.5(FARS2):c.626T>C (p.Ile209Thr) rs1270173250
NM_006567.5(FARS2):c.629A>G (p.Lys210Arg) rs751662656
NM_006567.5(FARS2):c.630G>C (p.Lys210Asn) rs1761441511
NM_006567.5(FARS2):c.631G>A (p.Asp211Asn)
NM_006567.5(FARS2):c.634G>A (p.Gly212Arg) rs2127718498
NM_006567.5(FARS2):c.655G>C (p.Glu219Gln) rs1562015386
NM_006567.5(FARS2):c.668G>C (p.Arg223Pro) rs770650914
NM_006567.5(FARS2):c.673G>A (p.Ala225Thr) rs1269010952
NM_006567.5(FARS2):c.68T>A (p.Ile23Asn) rs1348616908
NM_006567.5(FARS2):c.694A>G (p.Thr232Ala) rs201092264
NM_006567.5(FARS2):c.698T>C (p.Met233Thr) rs2127718699
NM_006567.5(FARS2):c.700G>A (p.Glu234Lys) rs1562015500
NM_006567.5(FARS2):c.748C>T (p.Leu250Phe) rs1562015600
NM_006567.5(FARS2):c.772+4A>C rs1368789274
NM_006567.5(FARS2):c.772+4A>G
NM_006567.5(FARS2):c.781A>T (p.Ile261Leu) rs201927340
NM_006567.5(FARS2):c.7G>A (p.Gly3Ser)
NM_006567.5(FARS2):c.815A>C (p.His272Pro) rs2127767829
NM_006567.5(FARS2):c.852A>C (p.Glu284Asp) rs772624228
NM_006567.5(FARS2):c.899A>G (p.Asn300Ser) rs863223959
NM_006567.5(FARS2):c.902C>T (p.Ser301Leu)
NM_006567.5(FARS2):c.904+3A>G rs1034582028
NM_006567.5(FARS2):c.907G>A (p.Gly303Ser) rs1770886046
NM_006567.5(FARS2):c.914A>G (p.Gln305Arg) rs543297094
NM_006567.5(FARS2):c.91G>A (p.Ala31Thr) rs556195502
NM_006567.5(FARS2):c.922A>G (p.Ile308Val)
NM_006567.5(FARS2):c.94T>A (p.Trp32Arg) rs1259085373
NM_006567.5(FARS2):c.955C>A (p.Leu319Ile) rs772822506
NM_006567.5(FARS2):c.958G>A (p.Ala320Thr) rs767870566
NM_006567.5(FARS2):c.985A>G (p.Ile329Val) rs1770896163
NM_006567.5(FARS2):c.988C>A (p.Arg330Ser) rs757442324
NM_006567.5(FARS2):c.999G>T (p.Trp333Cys)

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.