ClinVar Miner

List of variants in gene FARS2 reported as uncertain significance for combined oxidative phosphorylation defect type 14

Included ClinVar conditions (2):
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Gene type:
ClinVar version:
Total variants: 120
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HGVS dbSNP gnomAD frequency
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.920G>A (p.Arg307Gln) rs771882917 0.00011
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.*4C>T rs200232967 0.00008
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.882G>C (p.Met294Ile) rs886256686 0.00006
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.674C>T (p.Ala225Val) rs745400923 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.904G>T (p.Ala302Ser) rs375858088 0.00004
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.1293G>T (p.Arg431Ser) rs749743875 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.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.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.(?_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
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.1087G>A (p.Val363Met)
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.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.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.1218G>A (p.Lys406=)
NM_006567.5(FARS2):c.1250C>T (p.Thr417Met) rs1000376824
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.1345G>C (p.Gly449Arg)
NM_006567.5(FARS2):c.593G>T (p.Arg198Leu)
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.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.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.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.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.932C>T (p.Ala311Val)
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.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>T (p.Trp333Cys)

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