ClinVar Miner

List of variants in gene FARS2 reported as likely benign for combined oxidative phosphorylation deficiency

Included ClinVar conditions (81):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 99
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HGVS dbSNP gnomAD frequency
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.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.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.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.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.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.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.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.1293G>A (p.Arg431=) rs749743875
NM_006567.5(FARS2):c.1344G>A (p.Glu448=) rs945267016
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.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

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