ClinVar Miner

List of variants reported as likely benign for 2-methylbutyryl-CoA dehydrogenase deficiency by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_001609.3(ACADSB):c.-123G>A rs72839755 0.02536
NM_001609.4(ACADSB):c.*3130A>G rs41291348 0.00783
NM_001609.4(ACADSB):c.*3907C>G rs185346880 0.00554
NM_001609.4(ACADSB):c.*30G>A rs141805585 0.00359
NM_001609.4(ACADSB):c.*3517A>G rs147760289 0.00241
NM_001609.4(ACADSB):c.*2086G>A rs150796883 0.00231
NM_001609.4(ACADSB):c.*2227A>G rs149926796 0.00192
NM_001609.4(ACADSB):c.*1326A>G rs185596588 0.00179
NM_001609.4(ACADSB):c.*1826C>T rs568834686 0.00143
NM_001609.4(ACADSB):c.*78C>T rs117078411 0.00046
NM_001609.4(ACADSB):c.*1445A>T rs182952282 0.00016
NM_001609.4(ACADSB):c.*1920G>T rs141894735 0.00016
NM_001609.3(ACADSB):c.-102dup rs201117089
NM_001609.4(ACADSB):c.*2224A>G rs192771453
NM_001609.4(ACADSB):c.1228+20_1228+21del rs11307362

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