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

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Total variants: 16

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HGVS	dbSNP
NM_005327.5(HADH):c.100G>C (p.Gly34Arg)	rs779135938
NM_005327.5(HADH):c.257= (p.Leu86=)	rs4956145
NM_005327.5(HADH):c.266G>A (p.Gly89Asp)	rs1292646768
NM_005327.5(HADH):c.275T>G (p.Phe92Cys)	rs61735992
NM_005327.5(HADH):c.349G>C (p.Val117Leu)	rs146732064
NM_005327.5(HADH):c.456G>T (p.Gln152His)	rs1051519
NM_005327.5(HADH):c.643C>A (p.Pro215Thr)	rs140413151
NM_005327.5(HADH):c.662G>A (p.Arg221His)	rs76476980
NM_005327.5(HADH):c.676T>C (p.Tyr226His)	rs146036912
NM_005327.5(HADH):c.881A>G (p.Asn294Ser)	rs36030668
NM_005327.5(HADH):c.908G>T (p.Gly303Val)	rs575378007
NM_005327.7(HADH):c.380A>G (p.Lys127Arg)
NM_005327.7(HADH):c.479C>T (p.Thr160Ile)
NM_005327.7(HADH):c.494G>A (p.Arg165Gln)
NM_005327.7(HADH):c.614G>C (p.Gly205Ala)	rs144699575
NM_005327.7(HADH):c.99C>G (p.Ile33Met)	rs74428123

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