ClinVar Miner

List of variants in gene HADH reported as likely benign 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
NM_001184705.2(HADH):c.-193G>A rs10017687
NM_001184705.2(HADH):c.-65G>A rs28703310
NM_001331027.1(HADH):c.*818A>G rs17511319
NM_005327.5(HADH):c.275T>G (p.Phe92Cys) rs61735992
NM_005327.5(HADH):c.456G>T (p.Gln152His) rs1051519
NM_005327.5(HADH):c.636+13G>A rs17511214
NM_005327.5(HADH):c.643C>A (p.Pro215Thr) rs140413151
NM_005327.7(HADH):c.*168A>T
NM_005327.7(HADH):c.*383G>C
NM_005327.7(HADH):c.614G>C (p.Gly205Ala) rs144699575
NM_005327.7(HADH):c.99C>G (p.Ile33Met) rs74428123

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