ClinVar Miner

List of variants in gene HADH reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_005327.7(HADH):c.275T>G (p.Phe92Cys) rs61735992 0.00516
NM_005327.7(HADH):c.662G>A (p.Arg221His) rs76476980 0.00358
NM_005327.7(HADH):c.643C>A (p.Pro215Thr) rs140413151 0.00198
NM_005327.7(HADH):c.456G>T (p.Gln152His) rs1051519 0.00195
NM_005327.7(HADH):c.349G>C (p.Val117Leu) rs146732064 0.00035
NM_005327.7(HADH):c.120C>T (p.Ala40=)
NM_005327.7(HADH):c.133-4945T>C
NM_005327.7(HADH):c.414T>A (p.Ala138=)
NM_005327.7(HADH):c.617del (p.Lys206fs) rs1735963864
NM_005327.7(HADH):c.774A>G (p.Pro258=)

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