ClinVar Miner

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

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_000126.4(ETFA):c.*216A>T rs1803550 0.97654
NM_000126.4(ETFA):c.817-3173C>G rs2456057 0.64613
NM_000126.4(ETFA):c.39+12C>G rs62027051 0.14273
NM_000126.4(ETFA):c.817-32A>G rs62030234 0.07095
NM_000126.4(ETFA):c.512C>T (p.Thr171Ile) rs1801591 0.06414
NM_000126.4(ETFA):c.*268A>G rs80292319 0.03836
NM_000126.4(ETFA):c.733+38T>C rs78052129 0.03317
NM_000126.4(ETFA):c.734-20C>A rs2460160 0.00787
NM_000126.4(ETFA):c.351+17T>C rs138629105 0.00467
NM_000126.4(ETFA):c.562+11A>T rs143834701 0.00311
NM_000126.4(ETFA):c.186+16G>T rs146932936 0.00249
NM_000126.4(ETFA):c.451+14G>A rs557684539 0.00005
NM_000126.4(ETFA):c.40-19del
NM_000126.4(ETFA):c.40-19dup rs755841159
NM_000126.4(ETFA):c.40-20_40-19dup
NM_000126.4(ETFA):c.665-17del rs144403864
NM_000126.4(ETFA):c.665-17dup rs144403864
NM_000126.4(ETFA):c.734-9del
NM_000126.4(ETFA):c.817-8del
NM_000126.4(ETFA):c.964-20C>G rs570818940

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