ClinVar Miner

List of variants in gene HADH reported as pathogenic for Deficiency of 3-hydroxyacyl-CoA dehydrogenase

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_005327.7(HADH):c.706C>T (p.Arg236Ter) rs375717077 0.00003
NM_005327.7(HADH):c.171C>A (p.Asp57Glu) rs137853102 0.00001
NC_000004.11:g.(?_108911089)_(108911240_?)del
NC_000004.11:g.(?_108911089)_(108955513_?)del
NM_005327.7(HADH):c.118G>A (p.Ala40Thr) rs137853101
NM_005327.7(HADH):c.203dup (p.Ile70fs)
NM_005327.7(HADH):c.261+1G>A rs1398546361
NM_005327.7(HADH):c.304_307dup (p.Ser103fs)
NM_005327.7(HADH):c.369del (p.Asn123_Leu124insTer)
NM_005327.7(HADH):c.419+1G>A
NM_005327.7(HADH):c.493C>T (p.Arg165Ter)
NM_005327.7(HADH):c.516del (p.Phe172fs)
NM_005327.7(HADH):c.587del (p.Ser196fs) rs745727504
NM_005327.7(HADH):c.64del (p.Ala22fs)
NM_005327.7(HADH):c.664_668del (p.Leu222fs)

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