ClinVar Miner

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

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP
NM_000126.4(ETFA):c.-71T>C rs116149551
NM_000126.4(ETFA):c.186+7A>G rs184587113
NM_000126.4(ETFA):c.30C>T (p.Leu10=) rs1042921735
NM_000126.4(ETFA):c.342C>T (p.Ala114=) rs1306072739
NM_000126.4(ETFA):c.40-10C>T rs546196896
NM_000126.4(ETFA):c.442A>G (p.Ile148Val) rs199673198
NM_000126.4(ETFA):c.533C>G (p.Thr178Arg) rs140169311
NM_000126.4(ETFA):c.6C>T (p.Phe2=) rs749929239
NM_000126.4(ETFA):c.702A>G (p.Leu234=) rs775620228
NM_000126.4(ETFA):c.720A>G (p.Gln240=) rs756864231
NM_000126.4(ETFA):c.733+10T>C rs1298665818
NM_000126.4(ETFA):c.816+8T>A rs759412407
NM_000126.4(ETFA):c.826A>C (p.Ile276Leu) rs141200145
NM_000126.4(ETFA):c.837A>G (p.Gly279=) rs772717284

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