ClinVar Miner

List of variants studied for multiple acyl-CoA dehydrogenase deficiency by 3billion, Medical Genetics

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_004453.4(ETFDH):c.250G>A (p.Ala84Thr) rs121964954 0.00004
NM_004453.4(ETFDH):c.770A>G (p.Tyr257Cys) rs780015493 0.00004
NM_004453.4(ETFDH):c.1074G>C (p.Arg358Ser)
NM_004453.4(ETFDH):c.1388G>A (p.Gly463Asp) rs1561251388
NM_004453.4(ETFDH):c.1573A>C (p.Ser525Arg)
NM_004453.4(ETFDH):c.343T>A (p.Ser115Thr)
NM_004453.4(ETFDH):c.410C>T (p.Pro137Leu)

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