ClinVar Miner

List of variants reported as likely benign for 3-hydroxyacyl-CoA dehydrogenase deficiency by Invitae

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 49
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HGVS dbSNP
NM_000182.5(HADHA):c.1014C>T (p.Ala338=) rs748021991
NM_000182.5(HADHA):c.1044G>A (p.Leu348=) rs1574612640
NM_000182.5(HADHA):c.1140C>T (p.Ser380=) rs199727889
NM_000182.5(HADHA):c.1209A>G (p.Gln403=) rs780178287
NM_000182.5(HADHA):c.1212G>C (p.Val404=) rs116396996
NM_000182.5(HADHA):c.1389A>G (p.Glu463=) rs772078762
NM_000182.5(HADHA):c.1465A>G (p.Lys489Glu) rs145422395
NM_000182.5(HADHA):c.157C>A (p.Arg53=) rs147103714
NM_000182.5(HADHA):c.1620+9C>G rs772786562
NM_000182.5(HADHA):c.1620+9C>T rs772786562
NM_000182.5(HADHA):c.1621-7T>C rs774272303
NM_000182.5(HADHA):c.1629T>C (p.Pro543=) rs1056729658
NM_000182.5(HADHA):c.1788G>A (p.Ala596=) rs190409957
NM_000182.5(HADHA):c.1794T>C (p.His598=) rs149021400
NM_000182.5(HADHA):c.1854G>C (p.Leu618=) rs201393639
NM_000182.5(HADHA):c.189A>G (p.Thr63=) rs748187062
NM_000182.5(HADHA):c.1935G>A (p.Arg645=) rs762246988
NM_000182.5(HADHA):c.1947T>A (p.Asn649Lys) rs777153382
NM_000182.5(HADHA):c.1971G>A (p.Ala657=) rs570854524
NM_000182.5(HADHA):c.2000+9G>A rs200802583
NM_000182.5(HADHA):c.2112C>T (p.Ala704=) rs754294789
NM_000182.5(HADHA):c.2133G>A (p.Pro711=) rs186499456
NM_000182.5(HADHA):c.2147-8C>G rs368976628
NM_000182.5(HADHA):c.2175C>T (p.Gly725=) rs375399631
NM_000182.5(HADHA):c.264C>T (p.Ala88=) rs755713464
NM_000182.5(HADHA):c.585T>A (p.Pro195=) rs202034466
NM_000182.5(HADHA):c.589G>T (p.Ala197Ser) rs116320983
NM_000182.5(HADHA):c.652G>C (p.Val218Leu) rs71441018
NM_000182.5(HADHA):c.661C>T (p.Leu221=) rs1574623021
NM_000182.5(HADHA):c.777G>A (p.Lys259=) rs142071869
NM_000182.5(HADHA):c.799+8T>A rs1451443100
NM_000182.5(HADHA):c.809C>T (p.Ala270Val) rs141429393
NM_000182.5(HADHA):c.80G>T (p.Arg27Leu)
NM_000182.5(HADHA):c.810G>A (p.Ala270=) rs376632479
NM_000182.5(HADHA):c.816C>A (p.Ala272=) rs764851270
NM_000182.5(HADHA):c.858G>A (p.Val286=) rs373864418
NM_000182.5(HADHA):c.882T>C (p.Thr294=) rs769959246
NM_000182.5(HADHA):c.954C>T (p.Ala318=) rs755595692
NM_000183.3(HADHB):c.1098A>T (p.Ala366=) rs748353295
NM_000183.3(HADHB):c.1119T>C (p.Ile373=) rs77943157
NM_000183.3(HADHB):c.1206C>T (p.Tyr402=) rs146538551
NM_000183.3(HADHB):c.209+7A>G rs773618132
NM_000183.3(HADHB):c.210-9G>A rs538575997
NM_000183.3(HADHB):c.423C>T (p.Ala141=) rs374569092
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.643C>A (p.Pro215Thr) rs140413151
NM_005327.7(HADH):c.614G>C (p.Gly205Ala) rs144699575
NM_005327.7(HADH):c.99C>G (p.Ile33Met) rs74428123

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