ClinVar Miner

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

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_005327.7(HADH):c.676T>C (p.Tyr226His) rs146036912 0.00010
NM_005327.7(HADH):c.100G>C (p.Gly34Arg) rs779135938
NM_005327.7(HADH):c.130C>T (p.Gln44Ter)
NM_005327.7(HADH):c.166_169del (p.Val56fs)
NM_005327.7(HADH):c.261+2T>A
NM_005327.7(HADH):c.262-2A>G
NM_005327.7(HADH):c.271G>T (p.Glu91Ter)
NM_005327.7(HADH):c.419+1G>C
NM_005327.7(HADH):c.424dup (p.Thr142fs)
NM_005327.7(HADH):c.636+2T>C
NM_005327.7(HADH):c.636+2_636+3insCT rs2126234552
NM_005327.7(HADH):c.709+2T>C
NM_005327.7(HADH):c.710-1G>A

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