ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_005327.7(HADH):c.257T>C (p.Leu86Pro) rs4956145 0.86661
NM_005327.7(HADH):c.257= (p.Leu86=) rs4956145 0.13339
NM_005327.7(HADH):c.636+13G>A rs17511214 0.04139
NM_005327.7(HADH):c.881A>G (p.Asn294Ser) rs36030668 0.00738
NM_005327.7(HADH):c.662G>A (p.Arg221His) rs76476980 0.00358
NM_005327.7(HADH):c.133-15C>T rs190144364 0.00013
NM_005327.7(HADH):c.261+16C>T rs71601073

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