ClinVar Miner

List of variants in gene HADH 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: 9
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HGVS dbSNP
HADH, 6-BP DEL
HADH, EX1DEL
NM_005327.5(HADH):c.118G>A (p.Ala40Thr) rs137853101
NM_005327.5(HADH):c.171C>A (p.Asp57Glu) rs137853102
NM_005327.5(HADH):c.636+471G>T rs786200932
NM_005327.5(HADH):c.706C>T (p.Arg236Ter) rs375717077
NM_005327.5(HADH):c.773C>T (p.Pro258Leu) rs137853103
NM_005327.7(HADH):c.261+1G>A rs1398546361
NM_005327.7(HADH):c.587del (p.Ser196fs) rs745727504

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