ClinVar Miner

List of variants in gene ETFA reported as likely benign for multiple acyl-CoA dehydrogenase deficiency

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 272
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000126.4(ETFA):c.-71T>C rs116149551 0.00516
NM_000126.4(ETFA):c.351+17T>C rs138629105 0.00467
NM_000126.4(ETFA):c.186+7A>G rs184587113 0.00231
NM_000126.4(ETFA):c.826A>C (p.Ile276Leu) rs141200145 0.00096
NM_000126.4(ETFA):c.6C>T (p.Phe2=) rs749929239 0.00081
NM_000126.4(ETFA):c.533C>G (p.Thr178Arg) rs140169311 0.00079
NM_000126.4(ETFA):c.269-15G>A rs371793833 0.00006
NM_000126.4(ETFA):c.442A>G (p.Ile148Val) rs199673198 0.00006
NM_000126.4(ETFA):c.817-12C>T rs752918296 0.00006
NM_000126.4(ETFA):c.345C>T (p.Phe115=) rs760557143 0.00004
NM_000126.4(ETFA):c.351+8G>A rs374723922 0.00003
NM_000126.4(ETFA):c.720A>G (p.Gln240=) rs756864231 0.00003
NM_000126.4(ETFA):c.733+16T>G rs755381395 0.00003
NM_000126.4(ETFA):c.771T>G (p.Val257=) rs138255469 0.00003
NM_000126.4(ETFA):c.816+8T>A rs759412407 0.00003
NM_000126.4(ETFA):c.981T>G (p.Thr327=) rs752246889 0.00003
NM_000126.4(ETFA):c.352-8G>T rs767560884 0.00002
NM_000126.4(ETFA):c.39+8C>T rs771448257 0.00002
NM_000126.4(ETFA):c.489G>C (p.Val163=) rs1294335935 0.00002
NM_000126.4(ETFA):c.734-11T>C rs771704448 0.00002
NM_000126.4(ETFA):c.882+8T>C rs776847997 0.00002
NM_000126.4(ETFA):c.882+9A>G rs373161597 0.00002
NM_000126.4(ETFA):c.187-4A>T rs745823838 0.00001
NM_000126.4(ETFA):c.21G>C (p.Pro7=) rs903002200 0.00001
NM_000126.4(ETFA):c.264T>A (p.Leu88=) rs1405829462 0.00001
NM_000126.4(ETFA):c.269-5C>T rs2039776155 0.00001
NM_000126.4(ETFA):c.273A>G (p.Glu91=) rs1043494451 0.00001
NM_000126.4(ETFA):c.283T>C (p.Leu95=) rs759065701 0.00001
NM_000126.4(ETFA):c.30C>T (p.Leu10=) rs1042921735 0.00001
NM_000126.4(ETFA):c.321C>T (p.His107=) rs368550471 0.00001
NM_000126.4(ETFA):c.342C>T (p.Ala114=) rs1306072739 0.00001
NM_000126.4(ETFA):c.351+10T>C rs768357479 0.00001
NM_000126.4(ETFA):c.354C>T (p.Asn118=) rs761728625 0.00001
NM_000126.4(ETFA):c.393G>A (p.Pro131=) rs769299291 0.00001
NM_000126.4(ETFA):c.452-11del rs764215608 0.00001
NM_000126.4(ETFA):c.564A>G (p.Ala188=) rs752534473 0.00001
NM_000126.4(ETFA):c.654G>A (p.Val218=) rs779655385 0.00001
NM_000126.4(ETFA):c.678G>A (p.Lys226=) rs774023966 0.00001
NM_000126.4(ETFA):c.759T>C (p.Asp253=) rs142970498 0.00001
NM_000126.4(ETFA):c.78T>C (p.Ala26=) rs773298687 0.00001
NM_000126.4(ETFA):c.831T>C (p.Ala277=) rs371149279 0.00001
NM_000126.4(ETFA):c.883-10T>C rs1289782242 0.00001
NM_000126.4(ETFA):c.883-14T>A rs2038999587 0.00001
NM_000126.4(ETFA):c.951A>G (p.Ala317=) rs750192285 0.00001
NM_000126.4(ETFA):c.964-4G>A rs777742977 0.00001
NM_000126.4(ETFA):c.120C>T (p.Thr40=)
NM_000126.4(ETFA):c.126T>G (p.Thr42=)
NM_000126.4(ETFA):c.141T>G (p.Leu47=) rs2141543772
NM_000126.4(ETFA):c.153G>A (p.Val51=) rs2039810189
NM_000126.4(ETFA):c.156C>T (p.Ser52=) rs2141543739
NM_000126.4(ETFA):c.15G>A (p.Ala5=) rs1253564653
NM_000126.4(ETFA):c.165A>G (p.Val55=) rs2039810025
NM_000126.4(ETFA):c.183C>T (p.Asp61=) rs2141543697
NM_000126.4(ETFA):c.186+7A>C
NM_000126.4(ETFA):c.186+8A>T
NM_000126.4(ETFA):c.186+9T>A rs1596224309
NM_000126.4(ETFA):c.186+9T>C rs1596224309
NM_000126.4(ETFA):c.187-13C>A
NM_000126.4(ETFA):c.187-14T>C
NM_000126.4(ETFA):c.187-17T>G
NM_000126.4(ETFA):c.187-18C>T
NM_000126.4(ETFA):c.189G>A (p.Val63=) rs1179483198
NM_000126.4(ETFA):c.201C>G (p.Leu67=) rs1250916782
NM_000126.4(ETFA):c.210A>G (p.Val70=) rs1274661227
NM_000126.4(ETFA):c.210A>T (p.Val70=)
NM_000126.4(ETFA):c.213A>G (p.Ala71=)
NM_000126.4(ETFA):c.21G>A (p.Pro7=) rs903002200
NM_000126.4(ETFA):c.222A>G (p.Ala74=) rs2141540424
NM_000126.4(ETFA):c.228T>C (p.Val76=) rs1277270558
NM_000126.4(ETFA):c.240G>A (p.Gln80=) rs2141540395
NM_000126.4(ETFA):c.24G>A (p.Gly8=) rs2141564548
NM_000126.4(ETFA):c.24G>C (p.Gly8=) rs2141564548
NM_000126.4(ETFA):c.261A>G (p.Leu87=)
NM_000126.4(ETFA):c.264T>G (p.Leu88=) rs1405829462
NM_000126.4(ETFA):c.268+11C>G
NM_000126.4(ETFA):c.268+12C>T
NM_000126.4(ETFA):c.268+14G>A
NM_000126.4(ETFA):c.268+15T>C
NM_000126.4(ETFA):c.268+18A>G rs757775846
NM_000126.4(ETFA):c.269-15G>T
NM_000126.4(ETFA):c.269-17A>C
NM_000126.4(ETFA):c.269-19A>G
NM_000126.4(ETFA):c.269-5C>A
NM_000126.4(ETFA):c.276G>A (p.Leu92=)
NM_000126.4(ETFA):c.282A>G (p.Pro94=)
NM_000126.4(ETFA):c.288T>C (p.Ile96=)
NM_000126.4(ETFA):c.294A>C (p.Ala98=) rs1458002715
NM_000126.4(ETFA):c.297T>C (p.Thr99=) rs2141540022
NM_000126.4(ETFA):c.297T>G (p.Thr99=)
NM_000126.4(ETFA):c.303G>A (p.Lys101=)
NM_000126.4(ETFA):c.30C>G (p.Leu10=) rs1042921735
NM_000126.4(ETFA):c.324C>A (p.Ile108=) rs753701756
NM_000126.4(ETFA):c.336A>G (p.Ala112=)
NM_000126.4(ETFA):c.33G>C (p.Arg11=)
NM_000126.4(ETFA):c.348A>G (p.Gly116=) rs2141539896
NM_000126.4(ETFA):c.351+12G>A rs2039773989
NM_000126.4(ETFA):c.351+18G>A
NM_000126.4(ETFA):c.351+20G>A
NM_000126.4(ETFA):c.351+8G>C rs374723922
NM_000126.4(ETFA):c.351+9G>A rs2039774067
NM_000126.4(ETFA):c.352-16C>G
NM_000126.4(ETFA):c.352-19C>T
NM_000126.4(ETFA):c.352-7C>T
NM_000126.4(ETFA):c.358T>C (p.Leu120=) rs2141533653
NM_000126.4(ETFA):c.363C>T (p.Pro121=)
NM_000126.4(ETFA):c.366A>G (p.Arg122=) rs2039718120
NM_000126.4(ETFA):c.369A>T (p.Val123=)
NM_000126.4(ETFA):c.36G>A (p.Arg12=) rs1299355915
NM_000126.4(ETFA):c.372A>C (p.Ala124=)
NM_000126.4(ETFA):c.381T>G (p.Leu127=)
NM_000126.4(ETFA):c.384G>A (p.Glu128=)
NM_000126.4(ETFA):c.39+11A>C
NM_000126.4(ETFA):c.39+14G>T
NM_000126.4(ETFA):c.39+17A>G
NM_000126.4(ETFA):c.39+18del
NM_000126.4(ETFA):c.39+19G>A
NM_000126.4(ETFA):c.39+7C>T
NM_000126.4(ETFA):c.39+8C>G
NM_000126.4(ETFA):c.39+9G>A rs2039995773
NM_000126.4(ETFA):c.39+9G>C
NM_000126.4(ETFA):c.390C>T (p.Ala130=)
NM_000126.4(ETFA):c.40-10C>T rs546196896
NM_000126.4(ETFA):c.40-16T>G rs1402206099
NM_000126.4(ETFA):c.40-17C>A
NM_000126.4(ETFA):c.40-17_40-8del
NM_000126.4(ETFA):c.40-19T>C
NM_000126.4(ETFA):c.40-21_40-18dup
NM_000126.4(ETFA):c.40-21_40-19dup
NM_000126.4(ETFA):c.40-8C>T rs1380119459
NM_000126.4(ETFA):c.423T>C (p.Pro141=) rs2141533520
NM_000126.4(ETFA):c.426C>T (p.Asp142=)
NM_000126.4(ETFA):c.429A>C (p.Thr143=) rs2141533504
NM_000126.4(ETFA):c.429A>G (p.Thr143=)
NM_000126.4(ETFA):c.435G>A (p.Val145=) rs2141533487
NM_000126.4(ETFA):c.438A>G (p.Arg146=)
NM_000126.4(ETFA):c.441T>A (p.Thr147=) rs2141533484
NM_000126.4(ETFA):c.451+11A>C
NM_000126.4(ETFA):c.451+12A>G
NM_000126.4(ETFA):c.451+14_451+17del rs2039716961
NM_000126.4(ETFA):c.451+15A>G
NM_000126.4(ETFA):c.451+17G>T
NM_000126.4(ETFA):c.451+19T>C rs1301022193
NM_000126.4(ETFA):c.452-12del
NM_000126.4(ETFA):c.452-13T>A
NM_000126.4(ETFA):c.452-17T>C
NM_000126.4(ETFA):c.452-7G>A
NM_000126.4(ETFA):c.452-7G>T
NM_000126.4(ETFA):c.452-9A>G
NM_000126.4(ETFA):c.456T>C (p.Asn152=) rs2141531775
NM_000126.4(ETFA):c.462A>C (p.Leu154=) rs2039705956
NM_000126.4(ETFA):c.462A>G (p.Leu154=)
NM_000126.4(ETFA):c.468A>C (p.Thr156=) rs775043427
NM_000126.4(ETFA):c.471G>A (p.Val157=)
NM_000126.4(ETFA):c.495G>A (p.Val165=)
NM_000126.4(ETFA):c.513A>G (p.Thr171=)
NM_000126.4(ETFA):c.51A>G (p.Leu17=)
NM_000126.4(ETFA):c.540C>G (p.Gly180=) rs146133196
NM_000126.4(ETFA):c.540C>T (p.Gly180=) rs146133196
NM_000126.4(ETFA):c.549C>T (p.Ala183=)
NM_000126.4(ETFA):c.54A>G (p.Arg18=) rs2141543902
NM_000126.4(ETFA):c.558A>G (p.Glu186=) rs2141531548
NM_000126.4(ETFA):c.562+10C>G
NM_000126.4(ETFA):c.562+11A>G
NM_000126.4(ETFA):c.562+13T>G
NM_000126.4(ETFA):c.562+15G>C
NM_000126.4(ETFA):c.562+16G>T rs2141531505
NM_000126.4(ETFA):c.562+18G>T
NM_000126.4(ETFA):c.562+8T>C
NM_000126.4(ETFA):c.562+8T>G
NM_000126.4(ETFA):c.563-11A>T
NM_000126.4(ETFA):c.563-12T>C
NM_000126.4(ETFA):c.563-4G>A
NM_000126.4(ETFA):c.563-5T>C rs2141530823
NM_000126.4(ETFA):c.563-6A>G rs2141530825
NM_000126.4(ETFA):c.563-8G>A rs777484688
NM_000126.4(ETFA):c.563-9T>C
NM_000126.4(ETFA):c.579A>G (p.Pro193=) rs936157234
NM_000126.4(ETFA):c.591A>C (p.Ser197=) rs1327483238
NM_000126.4(ETFA):c.594G>A (p.Glu198=)
NM_000126.4(ETFA):c.603C>T (p.Asp201=)
NM_000126.4(ETFA):c.630A>G (p.Pro210=)
NM_000126.4(ETFA):c.657A>G (p.Val219=)
NM_000126.4(ETFA):c.660T>C (p.Ser220=)
NM_000126.4(ETFA):c.664+16A>C
NM_000126.4(ETFA):c.664+20T>C
NM_000126.4(ETFA):c.664+8A>T
NM_000126.4(ETFA):c.665-12T>A
NM_000126.4(ETFA):c.665-13C>G
NM_000126.4(ETFA):c.665-14T>C
NM_000126.4(ETFA):c.665-15A>G
NM_000126.4(ETFA):c.665-16dup
NM_000126.4(ETFA):c.665-17T>C
NM_000126.4(ETFA):c.665-18T>C
NM_000126.4(ETFA):c.665-19T>C
NM_000126.4(ETFA):c.665-4T>C
NM_000126.4(ETFA):c.667C>A (p.Arg223=) rs769976586
NM_000126.4(ETFA):c.66C>T (p.Thr22=) rs370375322
NM_000126.4(ETFA):c.687G>A (p.Glu229=)
NM_000126.4(ETFA):c.696G>A (p.Lys232=)
NM_000126.4(ETFA):c.69G>A (p.Leu23=)
NM_000126.4(ETFA):c.700T>C (p.Leu234=)
NM_000126.4(ETFA):c.702A>G (p.Leu234=) rs775620228
NM_000126.4(ETFA):c.721C>T (p.Leu241=)
NM_000126.4(ETFA):c.723A>G (p.Leu241=) rs2141528126
NM_000126.4(ETFA):c.733+10T>C rs1298665818
NM_000126.4(ETFA):c.733+16T>A
NM_000126.4(ETFA):c.733+18A>C
NM_000126.4(ETFA):c.733+8T>A
NM_000126.4(ETFA):c.733+8T>C
NM_000126.4(ETFA):c.733+9A>G
NM_000126.4(ETFA):c.734-10T>C rs2141516395
NM_000126.4(ETFA):c.734-17A>G
NM_000126.4(ETFA):c.734-8C>T
NM_000126.4(ETFA):c.750T>C (p.Ala250=)
NM_000126.4(ETFA):c.765C>A (p.Gly255=) rs2141516311
NM_000126.4(ETFA):c.780C>T (p.Asp260=)
NM_000126.4(ETFA):c.786A>G (p.Gln262=)
NM_000126.4(ETFA):c.798G>A (p.Thr266=) rs764478797
NM_000126.4(ETFA):c.810A>G (p.Val270=)
NM_000126.4(ETFA):c.813A>C (p.Ala271=) rs2141516230
NM_000126.4(ETFA):c.816+13A>G
NM_000126.4(ETFA):c.816+9T>A rs2141516215
NM_000126.4(ETFA):c.817-12_817-11del
NM_000126.4(ETFA):c.817-15C>T
NM_000126.4(ETFA):c.817-16A>G rs1176510084
NM_000126.4(ETFA):c.817-5T>A
NM_000126.4(ETFA):c.817-7A>G
NM_000126.4(ETFA):c.817-7A>T
NM_000126.4(ETFA):c.817-8T>G
NM_000126.4(ETFA):c.817-9T>G
NM_000126.4(ETFA):c.819A>G (p.Glu273=)
NM_000126.4(ETFA):c.81G>A (p.Glu27=)
NM_000126.4(ETFA):c.822T>A (p.Leu274=) rs2141463797
NM_000126.4(ETFA):c.822T>C (p.Leu274=) rs2141463797
NM_000126.4(ETFA):c.837A>C (p.Gly279=) rs772717284
NM_000126.4(ETFA):c.837A>G (p.Gly279=) rs772717284
NM_000126.4(ETFA):c.84T>C (p.His28=)
NM_000126.4(ETFA):c.864T>G (p.Ala288=)
NM_000126.4(ETFA):c.867G>A (p.Gly289=)
NM_000126.4(ETFA):c.882+10C>T rs2039064081
NM_000126.4(ETFA):c.882+14A>T
NM_000126.4(ETFA):c.882+15G>A
NM_000126.4(ETFA):c.882+7G>A rs753882653
NM_000126.4(ETFA):c.882+7G>C rs753882653
NM_000126.4(ETFA):c.882+7G>T rs753882653
NM_000126.4(ETFA):c.883-17_883-16del
NM_000126.4(ETFA):c.883-18T>C
NM_000126.4(ETFA):c.883-18T>G
NM_000126.4(ETFA):c.883-4A>G rs2142108087
NM_000126.4(ETFA):c.883-5C>T
NM_000126.4(ETFA):c.883-6T>C rs2142108091
NM_000126.4(ETFA):c.883-9A>G rs773894937
NM_000126.4(ETFA):c.883-9dup rs2142108094
NM_000126.4(ETFA):c.891G>C (p.Val297=) rs2142108075
NM_000126.4(ETFA):c.909A>G (p.Pro303=) rs2142108061
NM_000126.4(ETFA):c.927A>G (p.Gln309=)
NM_000126.4(ETFA):c.939T>C (p.Tyr313=)
NM_000126.4(ETFA):c.942A>C (p.Gly314=) rs1253828046
NM_000126.4(ETFA):c.945A>C (p.Ile315=) rs2142108038
NM_000126.4(ETFA):c.955T>C (p.Leu319=)
NM_000126.4(ETFA):c.960T>C (p.Phe320=)
NM_000126.4(ETFA):c.963+14G>A
NM_000126.4(ETFA):c.963+14G>C rs1369553684
NM_000126.4(ETFA):c.963+17A>G
NM_000126.4(ETFA):c.963+8G>A
NM_000126.4(ETFA):c.963+9del rs2038998662
NM_000126.4(ETFA):c.964-10T>C rs1223890959
NM_000126.4(ETFA):c.964-18T>G
NM_000126.4(ETFA):c.964-20C>T
NM_000126.4(ETFA):c.964-4G>T
NM_000126.4(ETFA):c.972T>C (p.Pro324=) rs1351662991
NM_000126.4(ETFA):c.99A>G (p.Leu33=)

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