ClinVar Miner

List of variants studied for Deficiency of 3-hydroxyacyl-CoA dehydrogenase by Baylor Genetics

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_005327.7(HADH):c.349G>C (p.Val117Leu) rs146732064 0.00035
NM_005327.7(HADH):c.676T>C (p.Tyr226His) rs146036912 0.00010
NM_005327.7(HADH):c.907G>A (p.Gly303Ser) rs201772964 0.00004
NM_005327.7(HADH):c.706C>T (p.Arg236Ter) rs375717077 0.00003
NM_005327.7(HADH):c.130C>T (p.Gln44Ter)
NM_005327.7(HADH):c.262-2A>G
NM_005327.7(HADH):c.271G>T (p.Glu91Ter)
NM_005327.7(HADH):c.419+1G>A
NM_005327.7(HADH):c.419+1G>C
NM_005327.7(HADH):c.424dup (p.Thr142fs)
NM_005327.7(HADH):c.587del (p.Ser196fs) rs745727504
NM_005327.7(HADH):c.709+2T>C
NM_005327.7(HADH):c.710-1G>A

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