ClinVar Miner

List of variants in gene HADHB reported as pathogenic for 3-hydroxyacyl-CoA dehydrogenase deficiency

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP
HADHB, 1-BP INS, 36-BP DEL
NM_000183.3(HADHB):c.1175C>T (p.Ala392Val) rs764623179
NM_000183.3(HADHB):c.1206C>G (p.Tyr402Ter) rs146538551
NM_000183.3(HADHB):c.1331G>A (p.Arg444Lys) rs121913134
NM_000183.3(HADHB):c.1364T>G (p.Val455Gly) rs267606859
NM_000183.3(HADHB):c.182G>A (p.Arg61His) rs121913132
NM_000183.3(HADHB):c.254+1G>A rs776172237
NM_000183.3(HADHB):c.357dup (p.Ala120fs) rs886037844
NM_000183.3(HADHB):c.685C>T (p.Arg229Ter) rs759136382
NM_000183.3(HADHB):c.740G>A (p.Arg247His) rs121913133
NM_000183.3(HADHB):c.788A>G (p.Asp263Gly) rs121913131

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