ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 284
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HGVS dbSNP gnomAD frequency
NM_006567.5(FARS2):c.1217+40158C>T rs4960122 0.40713
NM_006567.5(FARS2):c.737C>T (p.Thr246Met) rs116567033 0.00455
NM_006567.5(FARS2):c.1128C>T (p.Tyr376=) rs139204875 0.00057
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.1268G>A (p.Arg423Gln) rs148921184 0.00016
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.1082C>T (p.Pro361Leu) rs751459058 0.00011
NM_006567.5(FARS2):c.792del (p.Asp265fs) rs761097220 0.00011
NM_006567.5(FARS2):c.920G>A (p.Arg307Gln) rs771882917 0.00011
NM_006567.5(FARS2):c.781A>G (p.Ile261Val) rs201927340 0.00010
NM_006567.5(FARS2):c.1013G>A (p.Arg338His) rs746837108 0.00009
NM_006567.5(FARS2):c.1069C>T (p.Leu357Phe) rs370983000 0.00009
NM_006567.5(FARS2):c.1209A>G (p.Val403=) rs147628137 0.00007
NM_006567.5(FARS2):c.1220C>T (p.Thr407Met) rs372054960 0.00007
NM_006567.5(FARS2):c.973G>A (p.Asp325Asn) rs764427452 0.00007
NM_006567.5(FARS2):c.1009G>A (p.Glu337Lys) rs779793214 0.00006
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.882G>C (p.Met294Ile) rs886256686 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.874G>A (p.Gly292Arg) rs747278433 0.00005
NM_006567.5(FARS2):c.919C>T (p.Arg307Ter) rs148620369 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.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.674C>T (p.Ala225Val) rs745400923 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.754G>A (p.Ala252Thr) rs371390356 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.904G>T (p.Ala302Ser) rs375858088 0.00004
NM_006567.5(FARS2):c.*4C>T rs200232967 0.00003
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.1267C>T (p.Arg423Trp) rs145697325 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.755C>G (p.Ala252Gly) rs1047260982 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.1293G>T (p.Arg431Ser) rs749743875 0.00002
NM_006567.5(FARS2):c.771T>C (p.Asp257=) rs779590953 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.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.1066-12_1066-11del rs1424235482 0.00001
NM_006567.5(FARS2):c.1083G>A (p.Pro361=) rs762103254 0.00001
NM_006567.5(FARS2):c.1156C>T (p.Arg386Ter) rs770597592 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.1172A>T (p.Asp391Val) rs397514612 0.00001
NM_006567.5(FARS2):c.1243C>T (p.Arg415Cys) rs759833179 0.00001
NM_006567.5(FARS2):c.1251G>A (p.Thr417=) rs189168256 0.00001
NM_006567.5(FARS2):c.1255C>T (p.Arg419Cys) rs775690041 0.00001
NM_006567.5(FARS2):c.1256G>A (p.Arg419His) rs202183509 0.00001
NM_006567.5(FARS2):c.1282A>G (p.Arg428Gly) rs1339803692 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.1312C>G (p.Gln438Glu) rs1477908693 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.646C>T (p.Gln216Ter) rs1057523346 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.735A>G (p.Gln245=) rs752801499 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.774G>A (p.Glu258=) rs1274777348 0.00001
NM_006567.5(FARS2):c.786A>G (p.Arg262=) rs1763132563 0.00001
NM_006567.5(FARS2):c.812del (p.Thr271fs) rs1429774361 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.905C>T (p.Ala302Val) rs777903820 0.00001
NM_006567.5(FARS2):c.916G>T (p.Asp306Tyr) rs1354821900 0.00001
NM_006567.5(FARS2):c.957A>G (p.Leu319=) rs1015994762 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.972C>T (p.Tyr324=) rs150789146 0.00001
NM_006567.5(FARS2):c.986T>C (p.Ile329Thr) rs397514611 0.00001
NM_006567.5(FARS2):c.988C>T (p.Arg330Cys) rs757442324 0.00001
NM_006567.5(FARS2):c.993C>G (p.Leu331=) rs370814907 0.00001
NM_006567.5(FARS2):c.997T>A (p.Trp333Arg) rs1257634772 0.00001
GRCh37/hg19 6p25.1(chr6:5545413-5545573)
NC_000006.11:g.(?_5339261)_(5404834_?)del
NC_000006.11:g.(?_5368784)_(5545593_?)del
NC_000006.11:g.(?_5368804)_(5369425_?)del
NC_000006.11:g.(?_5368804)_(5369435_?)del
NC_000006.11:g.(?_5368804)_(5404954_?)del
NC_000006.11:g.(?_5368804)_(5404954_?)dup
NC_000006.11:g.(?_5368804)_(5613573_?)dup
NC_000006.11:g.(?_5404755)_(5404954_?)dup
NC_000006.11:g.(?_5404755)_(5431425_?)del
NC_000006.11:g.(?_5404755)_(5545593_?)del
NC_000006.11:g.(?_5404755)_(5613573_?)dup
NC_000006.11:g.(?_5431254)_(5431425_?)del
NC_000006.11:g.(?_5431254)_(5431425_?)dup
NC_000006.11:g.(?_5431254)_(5653711_?)del
NC_000006.11:g.(?_5545393)_(5545593_?)dup
NC_000006.11:g.(?_5545393)_(5613573_?)del
NC_000006.11:g.(?_5545403)_(5545583_?)del
NC_000006.11:g.(?_5613382)_(5613573_?)dup
NC_000006.11:g.(?_5771504)_(5771662_?)del
NC_000006.11:g.(?_5771504)_(5771682_?)dup
NC_000006.12:g.(?_5404522)_(5404721_?)del
NC_000006.12:g.(?_5545160)_(5545360_?)del
NC_000006.12:g.(?_5613149)_(5613340_?)del
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.1041C>T (p.Asn347=) rs769518528
NM_006567.5(FARS2):c.1044T>C (p.Ile348=) rs2150500866
NM_006567.5(FARS2):c.1050G>C (p.Gln350His) rs2150500869
NM_006567.5(FARS2):c.1057A>C (p.Lys353Gln) rs762302341
NM_006567.5(FARS2):c.1058A>G (p.Lys353Arg) rs2150500894
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.1084G>A (p.Ala362Thr)
NM_006567.5(FARS2):c.1084G>T (p.Ala362Ser) rs1775281586
NM_006567.5(FARS2):c.1087G>A (p.Val363Met)
NM_006567.5(FARS2):c.1092C>T (p.Ile364=)
NM_006567.5(FARS2):c.1093A>C (p.Asn365His)
NM_006567.5(FARS2):c.1109_1111delinsAACCAGAATGAA (p.Trp370_Leu371delinsTer) rs1554116357
NM_006567.5(FARS2):c.1110G>A (p.Trp370Ter)
NM_006567.5(FARS2):c.1113G>T (p.Leu371Phe) rs1204079767
NM_006567.5(FARS2):c.1116C>T (p.Pro372=) rs2150673615
NM_006567.5(FARS2):c.1122G>T (p.Glu374Asp)
NM_006567.5(FARS2):c.1126T>C (p.Tyr376His)
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.1163T>G (p.Ile388Ser) rs1407198979
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.1200C>T (p.Asp400=) rs2150673934
NM_006567.5(FARS2):c.1208T>C (p.Val403Ala) rs1775291062
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.1218-5T>C rs1014916887
NM_006567.5(FARS2):c.1218-73_1289delinsC
NM_006567.5(FARS2):c.1218-7T>C rs2150990567
NM_006567.5(FARS2):c.1218-9T>A rs748697780
NM_006567.5(FARS2):c.1218G>A (p.Lys406=)
NM_006567.5(FARS2):c.1244G>A (p.Arg415His)
NM_006567.5(FARS2):c.1250C>T (p.Thr417Met) rs1000376824
NM_006567.5(FARS2):c.1251G>C (p.Thr417=)
NM_006567.5(FARS2):c.1256G>T (p.Arg419Leu) rs202183509
NM_006567.5(FARS2):c.1261A>G (p.Met421Val) rs757022549
NM_006567.5(FARS2):c.1262T>C (p.Met421Thr)
NM_006567.5(FARS2):c.1267C>A (p.Arg423=)
NM_006567.5(FARS2):c.1269G>T (p.Arg423=) rs758019336
NM_006567.5(FARS2):c.1269_1276dup (p.Ser426Ter) rs1561847309
NM_006567.5(FARS2):c.1271C>G (p.Thr424Ser)
NM_006567.5(FARS2):c.1289T>C (p.Val430Ala) rs1763040456
NM_006567.5(FARS2):c.1293G>A (p.Arg431=) rs749743875
NM_006567.5(FARS2):c.1306G>A (p.Ala436Thr) rs1195724097
NM_006567.5(FARS2):c.1312C>A (p.Gln438Lys)
NM_006567.5(FARS2):c.1341G>A (p.Val447=)
NM_006567.5(FARS2):c.1344G>A (p.Glu448=) rs945267016
NM_006567.5(FARS2):c.1345G>C (p.Gly449Arg)
NM_006567.5(FARS2):c.1355G>A (p.Ter452=)
NM_006567.5(FARS2):c.593G>T (p.Arg198Leu)
NM_006567.5(FARS2):c.613-10T>G
NM_006567.5(FARS2):c.613-11T>A
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.613-2A>G
NM_006567.5(FARS2):c.613-4A>G rs1554181180
NM_006567.5(FARS2):c.613-9G>C
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.646C>G (p.Gln216Glu)
NM_006567.5(FARS2):c.651C>G (p.Leu217=)
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.694A>G (p.Thr232Ala) rs201092264
NM_006567.5(FARS2):c.694del (p.Thr232fs) rs2127718679
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.726T>C (p.Asp242=)
NM_006567.5(FARS2):c.738G>A (p.Thr246=)
NM_006567.5(FARS2):c.748C>T (p.Leu250Phe) rs1562015600
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+17A>C
NM_006567.5(FARS2):c.772+20T>C
NM_006567.5(FARS2):c.772+2T>A
NM_006567.5(FARS2):c.772+4A>C rs1368789274
NM_006567.5(FARS2):c.772+4A>G
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.781A>T (p.Ile261Leu) rs201927340
NM_006567.5(FARS2):c.798C>T (p.Cys266=)
NM_006567.5(FARS2):c.801C>G (p.Tyr267Ter) rs761709212
NM_006567.5(FARS2):c.804C>T (p.Phe268=)
NM_006567.5(FARS2):c.815A>C (p.His272Pro) rs2127767829
NM_006567.5(FARS2):c.821_824del (p.Ser274fs)
NM_006567.5(FARS2):c.829A>G (p.Met277Val)
NM_006567.5(FARS2):c.835A>G (p.Ile279Val)
NM_006567.5(FARS2):c.839A>C (p.Asn280Thr) rs11243011
NM_006567.5(FARS2):c.839A>G (p.Asn280Ser) rs11243011
NM_006567.5(FARS2):c.846T>A (p.His282Gln) rs764139130
NM_006567.5(FARS2):c.846T>C (p.His282=)
NM_006567.5(FARS2):c.852A>C (p.Glu284Asp) rs772624228
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.877del (p.Gly292_Val293insTer) rs2127767975
NM_006567.5(FARS2):c.886C>T (p.Gln296Ter) rs1414534588
NM_006567.5(FARS2):c.891A>G (p.Gln297=)
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+11A>T
NM_006567.5(FARS2):c.904+16A>G
NM_006567.5(FARS2):c.904+16del rs773225879
NM_006567.5(FARS2):c.904+18A>G
NM_006567.5(FARS2):c.904+3A>G rs1034582028
NM_006567.5(FARS2):c.904+9G>T rs201412926
NM_006567.5(FARS2):c.905-1G>A rs1298860043
NM_006567.5(FARS2):c.905-20A>C
NM_006567.5(FARS2):c.906T>G (p.Ala302=) rs1770885830
NM_006567.5(FARS2):c.907G>A (p.Gly303Ser) rs1770886046
NM_006567.5(FARS2):c.911C>T (p.Ala304Val)
NM_006567.5(FARS2):c.914A>G (p.Gln305Arg) rs543297094
NM_006567.5(FARS2):c.922A>G (p.Ile308Val)
NM_006567.5(FARS2):c.925G>A (p.Gly309Ser) rs746746116
NM_006567.5(FARS2):c.925G>C (p.Gly309Arg)
NM_006567.5(FARS2):c.929G>A (p.Trp310Ter)
NM_006567.5(FARS2):c.932C>T (p.Ala311Val)
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.946_950del (p.Leu316fs) rs1322974029
NM_006567.5(FARS2):c.955C>A (p.Leu319Ile) rs772822506
NM_006567.5(FARS2):c.955C>T (p.Leu319=) rs772822506
NM_006567.5(FARS2):c.958G>A (p.Ala320Thr) rs767870566
NM_006567.5(FARS2):c.973G>T (p.Asp325Tyr) rs764427452
NM_006567.5(FARS2):c.976A>G (p.Ile326Val)
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>A (p.Trp333Ter) rs753467517
NM_006567.5(FARS2):c.999G>T (p.Trp333Cys)
NM_006567.5:c.(?_-4)_(612+185_613-1)del

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