ClinVar Miner

List of variants reported as likely pathogenic for Deficiency of 3-hydroxyacyl-CoA dehydrogenase by Invitae

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_005327.7(HADH):c.100G>C (p.Gly34Arg)	rs779135938
NM_005327.7(HADH):c.261+2T>A
NM_005327.7(HADH):c.262-2A>G
NM_005327.7(HADH):c.636+2T>C
NM_005327.7(HADH):c.709+2T>C

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