ClinVar Miner

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

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 33
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HGVS dbSNP
NM_000126.4(ETFA):c.*46C>T
NM_000126.4(ETFA):c.*55C>G rs886051487
NM_000126.4(ETFA):c.*99G>A rs140121559
NM_000126.4(ETFA):c.-42C>T rs546128998
NM_000126.4(ETFA):c.-56C>A rs548701046
NM_000126.4(ETFA):c.-59C>T rs80155214
NM_000126.4(ETFA):c.-71T>G
NM_000126.4(ETFA):c.-7G>A rs779643894
NM_000126.4(ETFA):c.186+7A>G rs184587113
NM_000126.4(ETFA):c.20C>T (p.Pro7Leu) rs557160401
NM_000126.4(ETFA):c.268+3G>A
NM_000126.4(ETFA):c.2T>C (p.Met1Thr) rs727503918
NM_000126.4(ETFA):c.323T>A (p.Ile108Asn) rs1414148078
NM_000126.4(ETFA):c.351+12G>A
NM_000126.4(ETFA):c.366A>G (p.Arg122=)
NM_000126.4(ETFA):c.367G>A (p.Val123Ile) rs886051489
NM_000126.4(ETFA):c.509G>A (p.Gly170Glu) rs780998008
NM_000126.4(ETFA):c.533C>G (p.Thr178Arg) rs140169311
NM_000126.4(ETFA):c.63T>G (p.Ser21Arg) rs1596224387
NM_000126.4(ETFA):c.667C>T (p.Arg223Ter) rs769976586
NM_000126.4(ETFA):c.66C>T (p.Thr22=)
NM_000126.4(ETFA):c.720A>G (p.Gln240=) rs756864231
NM_000126.4(ETFA):c.728C>G (p.Ala243Gly)
NM_000126.4(ETFA):c.746G>A (p.Arg249His) rs886051488
NM_000126.4(ETFA):c.78T>C (p.Ala26=)
NM_000126.4(ETFA):c.81G>C (p.Glu27Asp) rs772068605
NM_000126.4(ETFA):c.826A>C (p.Ile276Leu) rs141200145
NM_000126.4(ETFA):c.871A>C (p.Lys291Gln) rs1184566559
NM_000126.4(ETFA):c.882+10C>T
NM_000126.4(ETFA):c.882+6T>G rs746311782
NM_000126.4(ETFA):c.946G>T (p.Val316Phe) rs1567195832
NM_000126.4(ETFA):c.964-1G>C rs757885420
NM_000126.4(ETFA):c.967G>A (p.Val323Ile)

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