ClinVar Miner

List of variants reported as uncertain significance for Deficiency of 3-hydroxyacyl-CoA dehydrogenase by Invitae

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Total variants: 55
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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.809C>T (p.Thr270Met) rs577954688 0.00017
NM_005327.7(HADH):c.676T>C (p.Tyr226His) rs146036912 0.00010
NM_005327.7(HADH):c.361G>A (p.Val121Met) rs377615662 0.00006
NM_005327.7(HADH):c.820G>A (p.Val274Met) rs543440046 0.00004
NM_005327.7(HADH):c.907G>A (p.Gly303Ser) rs201772964 0.00004
NM_005327.7(HADH):c.908G>T (p.Gly303Val) rs575378007 0.00004
NM_005327.7(HADH):c.325G>A (p.Val109Ile) rs199810422 0.00003
NM_005327.7(HADH):c.47C>T (p.Ser16Phe) rs374248298 0.00003
NM_005327.7(HADH):c.34G>A (p.Val12Met) rs139920805 0.00002
NM_005327.7(HADH):c.479C>T (p.Thr160Ile) rs780252799 0.00002
NM_005327.7(HADH):c.757G>A (p.Gly253Ser) rs749276908 0.00002
NM_005327.7(HADH):c.817A>G (p.Ile273Val) rs1404810726 0.00002
NM_005327.7(HADH):c.863A>C (p.Gln288Pro) rs751120678 0.00002
NM_005327.7(HADH):c.126T>G (p.Ile42Met) rs1264862903 0.00001
NM_005327.7(HADH):c.266G>A (p.Gly89Asp) rs1292646768 0.00001
NM_005327.7(HADH):c.280G>C (p.Glu94Gln) rs1274785101 0.00001
NM_005327.7(HADH):c.283A>G (p.Lys95Glu) rs536173298 0.00001
NM_005327.7(HADH):c.449C>T (p.Ser150Phe) rs1735809175 0.00001
NM_005327.7(HADH):c.494G>A (p.Arg165Gln) rs768880930 0.00001
NM_005327.7(HADH):c.707G>A (p.Arg236Gln) rs748945961 0.00001
NM_005327.7(HADH):c.761A>G (p.Tyr254Cys) rs771071992 0.00001
NM_005327.7(HADH):c.889G>A (p.Val297Ile) rs376876153 0.00001
NC_000004.11:g.(?_108816710)_(108955513_?)dup
NC_000004.11:g.(?_108911069)_(108955533_?)dup
NM_005327.7(HADH):c.100G>A (p.Gly34Ser) rs779135938
NM_005327.7(HADH):c.106G>C (p.Gly36Arg) rs994692222
NM_005327.7(HADH):c.134T>C (p.Val45Ala)
NM_005327.7(HADH):c.220C>T (p.Leu74Phe) rs1735422340
NM_005327.7(HADH):c.235AAG[2] (p.Lys81del) rs763318550
NM_005327.7(HADH):c.243G>T (p.Lys81Asn)
NM_005327.7(HADH):c.311C>T (p.Thr104Met)
NM_005327.7(HADH):c.316G>A (p.Ala106Thr)
NM_005327.7(HADH):c.32C>T (p.Ser11Phe)
NM_005327.7(HADH):c.380A>G (p.Lys127Arg) rs1735626197
NM_005327.7(HADH):c.388C>T (p.Leu130Phe)
NM_005327.7(HADH):c.420A>T (p.Glu140Asp)
NM_005327.7(HADH):c.422A>G (p.His141Arg)
NM_005327.7(HADH):c.427A>G (p.Ile143Val)
NM_005327.7(HADH):c.443C>T (p.Thr148Ile)
NM_005327.7(HADH):c.497T>A (p.Phe166Tyr)
NM_005327.7(HADH):c.50C>T (p.Thr17Ile)
NM_005327.7(HADH):c.533T>A (p.Met178Lys)
NM_005327.7(HADH):c.643C>T (p.Pro215Ser) rs140413151
NM_005327.7(HADH):c.705A>C (p.Glu235Asp)
NM_005327.7(HADH):c.715G>T (p.Ala239Ser) rs746680125
NM_005327.7(HADH):c.725A>G (p.Glu242Gly) rs1736337186
NM_005327.7(HADH):c.740C>T (p.Ala247Val) rs1736337431
NM_005327.7(HADH):c.805A>G (p.Thr269Ala) rs1736341112
NM_005327.7(HADH):c.806C>G (p.Thr269Ser) rs754403207
NM_005327.7(HADH):c.825T>C (p.Asp275=)
NM_005327.7(HADH):c.832C>T (p.His278Tyr)
NM_005327.7(HADH):c.875C>T (p.Ser292Phe)
NM_005327.7(HADH):c.8T>C (p.Phe3Ser) rs2126215379
NM_005327.7(HADH):c.906C>G (p.Phe302Leu)

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