ClinVar Miner

List of variants in gene ETFDH 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: 27
Download table as spreadsheet
HGVS dbSNP
NM_001281737.1(ETFDH):c.-239G>A rs113981461
NM_004453.4(ETFDH):c.1049G>A (p.Arg350Gln) rs139306043
NM_004453.4(ETFDH):c.1080A>G (p.Ala360=) rs150020458
NM_004453.4(ETFDH):c.1116+7C>T rs748640706
NM_004453.4(ETFDH):c.1286-8A>T rs1054882235
NM_004453.4(ETFDH):c.1375C>T (p.His459Tyr) rs200111698
NM_004453.4(ETFDH):c.1449G>T (p.Pro483=) rs143873407
NM_004453.4(ETFDH):c.1533T>C (p.Asp511=) rs77484245
NM_004453.4(ETFDH):c.1555T>C (p.Leu519=) rs533097197
NM_004453.4(ETFDH):c.1560A>C (p.Ser520=) rs566844923
NM_004453.4(ETFDH):c.1590A>G (p.Glu530=) rs143015234
NM_004453.4(ETFDH):c.1623T>C (p.Asp541=) rs1580423557
NM_004453.4(ETFDH):c.175+3A>G rs781151266
NM_004453.4(ETFDH):c.1764T>C (p.His588=) rs141180629
NM_004453.4(ETFDH):c.36A>G (p.Ala12=) rs201254467
NM_004453.4(ETFDH):c.399G>A (p.Glu133=) rs1319398122
NM_004453.4(ETFDH):c.441T>C (p.Phe147=) rs138149265
NM_004453.4(ETFDH):c.459A>G (p.Lys153=) rs749702132
NM_004453.4(ETFDH):c.474G>A (p.Val158=) rs1350126940
NM_004453.4(ETFDH):c.572G>A (p.Gly191Asp) rs147219158
NM_004453.4(ETFDH):c.627T>C (p.Gly209=) rs148708761
NM_004453.4(ETFDH):c.642T>C (p.Ile214=) rs201049444
NM_004453.4(ETFDH):c.651C>T (p.Asn217=) rs562079045
NM_004453.4(ETFDH):c.684+13A>C rs149407913
NM_004453.4(ETFDH):c.832-10T>G rs200911913
NM_004453.4(ETFDH):c.882T>C (p.Thr294=) rs770579929
NM_004453.4(ETFDH):c.972+7T>A rs1580414056

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.