ClinVar Miner

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

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_001985.3(ETFB):c.382G>A (p.Asp128Asn) rs104894678 0.00002
NM_001985.3(ETFB):c.490C>T (p.Arg164Trp) rs148045813 0.00001
NM_001985.3(ETFB):c.571C>T (p.Arg191Cys) rs772976948 0.00001
NM_001985.3(ETFB):c.58-57C>T rs766066977 0.00001
NM_001985.3(ETFB):c.136del (p.Val46fs)
NM_001985.3(ETFB):c.163A>T (p.Lys55Ter)
NM_001985.3(ETFB):c.208del (p.Gln70fs)
NM_001985.3(ETFB):c.216+1G>C
NM_001985.3(ETFB):c.253C>T (p.Arg85Ter) rs187424345
NM_001985.3(ETFB):c.32dup (p.Arg12fs)
NM_001985.3(ETFB):c.341_375+154del
NM_001985.3(ETFB):c.375+1G>A
NM_001985.3(ETFB):c.375+1G>C
NM_001985.3(ETFB):c.375+1G>T
NM_001985.3(ETFB):c.375G>C (p.Gln125His)
NM_001985.3(ETFB):c.406C>T (p.Gln136Ter)
NM_001985.3(ETFB):c.439-1G>A
NM_001985.3(ETFB):c.491G>A (p.Arg164Gln) rs104894677
NM_001985.3(ETFB):c.598-1del rs750961823
NM_001985.3(ETFB):c.61C>T (p.Arg21Ter)
NM_001985.3(ETFB):c.61del (p.Arg21fs)
NM_001985.3(ETFB):c.671_672del (p.Val224fs)
NM_001985.3(ETFB):c.94del (p.Asp32fs)

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