ClinVar Miner

List of variants in gene combination GAREM2, HADHA 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: 19
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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.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.1690-14C>T rs142401180
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.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.1981C>T (p.Leu661=) rs142348718
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

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