ClinVar Miner

List of variants in gene ETFDH reported as pathogenic for acyl-CoA dehydrogenase deficiency

Included ClinVar conditions (6):
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Gene type:
ClinVar version:
Total variants: 29
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HGVS dbSNP
ETFDH, 1-BP DEL, 36A
NM_004453.2(ETFDH):c.1367C>T rs398124152
NM_004453.3(ETFDH):c.[1367C>T];[1487T>C]
NM_004453.4(ETFDH):c.1130T>C (p.Leu377Pro) rs387907170
NM_004453.4(ETFDH):c.1169del (p.Gly390fs)
NM_004453.4(ETFDH):c.121C>T (p.Arg41Ter) rs773668457
NM_004453.4(ETFDH):c.1234G>T (p.Glu412Ter) rs398124151
NM_004453.4(ETFDH):c.1351G>C (p.Val451Leu)
NM_004453.4(ETFDH):c.1374C>A (p.Cys458Ter) rs1580422708
NM_004453.4(ETFDH):c.1448C>T (p.Pro483Leu) rs377656387
NM_004453.4(ETFDH):c.1450T>C (p.Trp484Arg)
NM_004453.4(ETFDH):c.1555_1556del (p.Leu519fs)
NM_004453.4(ETFDH):c.1601C>T (p.Pro534Leu) rs200920510
NM_004453.4(ETFDH):c.1605_1606AC[1] (p.His536fs)
NM_004453.4(ETFDH):c.1648_1649del (p.Leu550fs) rs1469053638
NM_004453.4(ETFDH):c.207del (p.Asp70fs)
NM_004453.4(ETFDH):c.250G>A (p.Ala84Thr) rs121964954
NM_004453.4(ETFDH):c.295C>T (p.Arg99Cys) rs371493232
NM_004453.4(ETFDH):c.296_297GT[5] (p.Leu102fs) rs796051962
NM_004453.4(ETFDH):c.2T>C (p.Met1Thr) rs121964953
NM_004453.4(ETFDH):c.34G>C (p.Ala12Pro) rs1172887273
NM_004453.4(ETFDH):c.380T>A (p.Leu127His) rs121964956
NM_004453.4(ETFDH):c.413T>G (p.Leu138Arg) rs779896449
NM_004453.4(ETFDH):c.51dup (p.Ala18fs) rs796051964
NM_004453.4(ETFDH):c.524G>A (p.Arg175His) rs121964955
NM_004453.4(ETFDH):c.524G>T (p.Arg175Leu) rs121964955
NM_004453.4(ETFDH):c.684+2T>G rs1580406119
NM_004453.4(ETFDH):c.770A>G (p.Tyr257Cys) rs780015493
NM_004453.4(ETFDH):c.858G>A (p.Trp286Ter)

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