ClinVar Miner

List of variants in gene ACADSB reported as likely benign for amino acid or protein metabolism disease with epilepsy

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
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HGVS dbSNP
NM_001609.3(ACADSB):c.*1445A>T rs182952282
NM_001609.3(ACADSB):c.*1826C>T rs568834686
NM_001609.3(ACADSB):c.*1920G>T rs141894735
NM_001609.3(ACADSB):c.*2227A>G rs149926796
NM_001609.3(ACADSB):c.*30G>A rs141805585
NM_001609.3(ACADSB):c.*3130A>G rs41291348
NM_001609.3(ACADSB):c.*3907C>G rs185346880
NM_001609.3(ACADSB):c.*78C>T rs117078411
NM_001609.3(ACADSB):c.-102dup rs201117089
NM_001609.3(ACADSB):c.-123G>A rs72839755
NM_001609.3(ACADSB):c.795C>T (p.Phe265=) rs150619709
NM_001609.4(ACADSB):c.*1326A>G
NM_001609.4(ACADSB):c.*2086G>A
NM_001609.4(ACADSB):c.*2224A>G
NM_001609.4(ACADSB):c.*3517A>G
NM_001609.4(ACADSB):c.1101G>A (p.Ala367=) rs145295182
NM_001609.4(ACADSB):c.1128+20_1128+26dup rs10571424
NM_001609.4(ACADSB):c.1228+20_1228+21del rs11307362
NM_001609.4(ACADSB):c.452G>A (p.Arg151Lys) rs140747102

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