ClinVar Miner

List of variants in gene ETFA reported as uncertain significance for acyl-CoA dehydrogenase deficiency

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 124
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HGVS dbSNP gnomAD frequency
NM_000126.4(ETFA):c.*99G>A rs140121559 0.00250
NM_000126.4(ETFA):c.186+7A>G rs184587113 0.00231
NM_000126.4(ETFA):c.*46C>T rs183981964 0.00123
NM_000126.4(ETFA):c.826A>C (p.Ile276Leu) rs141200145 0.00096
NM_000126.4(ETFA):c.533C>G (p.Thr178Arg) rs140169311 0.00079
NM_000126.4(ETFA):c.20C>T (p.Pro7Leu) rs557160401 0.00027
NM_000126.4(ETFA):c.931G>T (p.Ala311Ser) rs372591001 0.00012
NM_000126.4(ETFA):c.-9G>T rs754953251 0.00011
NM_000126.4(ETFA):c.882+5T>C rs377259058 0.00010
NM_000126.4(ETFA):c.-59C>T rs80155214 0.00009
NM_000126.4(ETFA):c.11C>T (p.Ala4Val) rs761552468 0.00009
NM_000126.4(ETFA):c.-56C>A rs548701046 0.00008
NM_000126.4(ETFA):c.505C>T (p.Arg169Cys) rs369713466 0.00008
NM_000126.4(ETFA):c.-7G>A rs779643894 0.00005
NM_000126.4(ETFA):c.170G>C (p.Gly57Ala) rs146299082 0.00004
NM_000126.4(ETFA):c.541G>A (p.Gly181Ser) rs374127169 0.00004
NM_000126.4(ETFA):c.557A>G (p.Glu186Gly) rs986861899 0.00004
NM_000126.4(ETFA):c.667C>T (p.Arg223Ter) rs769976586 0.00004
NM_000126.4(ETFA):c.197A>G (p.Asp66Gly) rs201888260 0.00003
NM_000126.4(ETFA):c.215G>A (p.Gly72Asp) rs758004001 0.00003
NM_000126.4(ETFA):c.720A>G (p.Gln240=) rs756864231 0.00003
NM_000126.4(ETFA):c.728C>G (p.Ala243Gly) rs202121622 0.00003
NM_000126.4(ETFA):c.883-3C>T rs772701864 0.00003
NM_000126.4(ETFA):c.148G>A (p.Glu50Lys) rs780880209 0.00002
NM_000126.4(ETFA):c.919A>G (p.Ile307Val) rs373896010 0.00002
NM_000126.4(ETFA):c.964-1G>C rs757885420 0.00002
NM_000126.4(ETFA):c.967G>A (p.Val323Ile) rs1225887341 0.00002
NM_000126.4(ETFA):c.-40G>A rs1057521597 0.00001
NM_000126.4(ETFA):c.1001G>T (p.Ter334Leu) rs201424632 0.00001
NM_000126.4(ETFA):c.173C>G (p.Thr58Ser) rs1166705959 0.00001
NM_000126.4(ETFA):c.268+3G>A rs1160396237 0.00001
NM_000126.4(ETFA):c.2T>C (p.Met1Thr) rs727503918 0.00001
NM_000126.4(ETFA):c.321C>T (p.His107=) rs368550471 0.00001
NM_000126.4(ETFA):c.392C>T (p.Pro131Leu) rs1323414196 0.00001
NM_000126.4(ETFA):c.39G>A (p.Ala13=) rs776956043 0.00001
NM_000126.4(ETFA):c.457G>C (p.Ala153Pro) rs1398343360 0.00001
NM_000126.4(ETFA):c.506G>A (p.Arg169His) rs375660532 0.00001
NM_000126.4(ETFA):c.509G>A (p.Gly170Glu) rs780998008 0.00001
NM_000126.4(ETFA):c.746G>A (p.Arg249His) rs886051488 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.81G>C (p.Glu27Asp) rs772068605 0.00001
NM_000126.4(ETFA):c.876C>A (p.Asp292Glu) rs778807824 0.00001
NM_000126.4(ETFA):c.932C>T (p.Ala311Val) rs1263820606 0.00001
NC_000015.9:g.(?_76508900)_(76518290_?)del
NC_000015.9:g.(?_76508900)_(76603729_?)dup
NC_000015.9:g.(?_76518170)_(76518290_?)del
NC_000015.9:g.(?_76523654)_(76523759_?)del
NC_000015.9:g.(?_76603671)_(76603729_?)dup
NM_000126.4(ETFA):c.*55C>G rs886051487
NM_000126.4(ETFA):c.-11_16del (p.Met1_Ala6del)
NM_000126.4(ETFA):c.-42C>T rs546128998
NM_000126.4(ETFA):c.-71T>G rs116149551
NM_000126.4(ETFA):c.100G>A (p.Ala34Thr)
NM_000126.4(ETFA):c.136C>T (p.Arg46Cys)
NM_000126.4(ETFA):c.163G>A (p.Val55Ile) rs1035217923
NM_000126.4(ETFA):c.170G>T (p.Gly57Val)
NM_000126.4(ETFA):c.178T>G (p.Cys60Gly)
NM_000126.4(ETFA):c.187-3T>C
NM_000126.4(ETFA):c.218T>C (p.Ile73Thr) rs2039778846
NM_000126.4(ETFA):c.242A>C (p.His81Pro)
NM_000126.4(ETFA):c.245A>T (p.Asp82Val)
NM_000126.4(ETFA):c.263T>C (p.Leu88Pro) rs1400343293
NM_000126.4(ETFA):c.265C>T (p.Pro89Ser) rs2039778041
NM_000126.4(ETFA):c.269-8A>G rs1440046169
NM_000126.4(ETFA):c.295A>G (p.Thr99Ala)
NM_000126.4(ETFA):c.300G>T (p.Gln100His) rs948361766
NM_000126.4(ETFA):c.323T>A (p.Ile108Asn) rs1414148078
NM_000126.4(ETFA):c.323T>C (p.Ile108Thr)
NM_000126.4(ETFA):c.32G>A (p.Arg11Gln)
NM_000126.4(ETFA):c.334G>A (p.Ala112Thr)
NM_000126.4(ETFA):c.334G>T (p.Ala112Ser)
NM_000126.4(ETFA):c.345C>A (p.Phe115Leu)
NM_000126.4(ETFA):c.351+12G>A rs2039773989
NM_000126.4(ETFA):c.351+9G>A rs2039774067
NM_000126.4(ETFA):c.366A>G (p.Arg122=) rs2039718120
NM_000126.4(ETFA):c.367G>A (p.Val123Ile) rs886051489
NM_000126.4(ETFA):c.36G>A (p.Arg12=) rs1299355915
NM_000126.4(ETFA):c.379C>T (p.Leu127Phe) rs910012804
NM_000126.4(ETFA):c.388G>A (p.Ala130Thr)
NM_000126.4(ETFA):c.405C>G (p.Ile135Met)
NM_000126.4(ETFA):c.431T>C (p.Phe144Ser) rs755055339
NM_000126.4(ETFA):c.461T>C (p.Leu154Pro) rs1286837897
NM_000126.4(ETFA):c.467C>T (p.Thr156Ile) rs199597352
NM_000126.4(ETFA):c.481G>A (p.Glu161Lys)
NM_000126.4(ETFA):c.521A>C (p.Asp174Ala) rs1396125343
NM_000126.4(ETFA):c.521A>G (p.Asp174Gly)
NM_000126.4(ETFA):c.53G>A (p.Arg18Gln)
NM_000126.4(ETFA):c.560A>G (p.Lys187Arg) rs2141531541
NM_000126.4(ETFA):c.592G>C (p.Glu198Gln) rs2141530756
NM_000126.4(ETFA):c.625C>G (p.Arg209Gly) rs199763682
NM_000126.4(ETFA):c.631G>A (p.Glu211Lys)
NM_000126.4(ETFA):c.63T>G (p.Ser21Arg) rs1596224387
NM_000126.4(ETFA):c.668G>A (p.Arg223Gln)
NM_000126.4(ETFA):c.66C>T (p.Thr22=) rs370375322
NM_000126.4(ETFA):c.682G>A (p.Gly228Arg) rs1390694827
NM_000126.4(ETFA):c.683G>A (p.Gly228Glu)
NM_000126.4(ETFA):c.69_140del (p.Val24_Leu47del)
NM_000126.4(ETFA):c.706G>T (p.Asp236Tyr) rs2141528171
NM_000126.4(ETFA):c.731C>T (p.Ala244Val)
NM_000126.4(ETFA):c.745C>T (p.Arg249Cys) rs1353938548
NM_000126.4(ETFA):c.775A>G (p.Asn259Asp)
NM_000126.4(ETFA):c.77C>T (p.Ala26Val) rs1389901296
NM_000126.4(ETFA):c.79G>A (p.Glu27Lys) rs2141543849
NM_000126.4(ETFA):c.805A>T (p.Ile269Leu)
NM_000126.4(ETFA):c.806TAG[1] (p.Val270del) rs779140971
NM_000126.4(ETFA):c.811G>A (p.Ala271Thr)
NM_000126.4(ETFA):c.838A>C (p.Ile280Leu)
NM_000126.4(ETFA):c.866G>C (p.Gly289Ala)
NM_000126.4(ETFA):c.871A>C (p.Lys291Gln) rs1184566559
NM_000126.4(ETFA):c.882+10C>T rs2039064081
NM_000126.4(ETFA):c.882+3A>G
NM_000126.4(ETFA):c.882+6T>G rs746311782
NM_000126.4(ETFA):c.88A>G (p.Asn30Asp) rs2039810890
NM_000126.4(ETFA):c.8G>C (p.Arg3Pro) rs2141564581
NM_000126.4(ETFA):c.917C>T (p.Pro306Leu)
NM_000126.4(ETFA):c.934G>A (p.Asp312Asn)
NM_000126.4(ETFA):c.946G>C (p.Val316Leu) rs1567195832
NM_000126.4(ETFA):c.946G>T (p.Val316Phe) rs1567195832
NM_000126.4(ETFA):c.963+1del rs746488455
NM_000126.4(ETFA):c.973G>A (p.Glu325Lys) rs2038898400
NM_000126.4(ETFA):c.974A>G (p.Glu325Gly)
NM_000126.4(ETFA):c.980C>A (p.Thr327Asn)
NM_000126.4(ETFA):c.994A>G (p.Lys332Glu)

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