ClinVar Miner

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

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 32
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HGVS dbSNP
NM_000182.5(HADHA):c.1162A>T (p.Ile388Leu)
NM_000182.5(HADHA):c.1196G>A (p.Arg399Gln) rs200715496
NM_000182.5(HADHA):c.1712T>C (p.Leu571Pro) rs1553312058
NM_000182.5(HADHA):c.1772T>G (p.Val591Gly)
NM_000182.5(HADHA):c.1789A>G (p.Lys597Glu)
NM_000182.5(HADHA):c.2215G>T (p.Ala739Ser)
NM_000182.5(HADHA):c.325G>A (p.Ala109Thr)
NM_000182.5(HADHA):c.425A>G (p.Asn142Ser)
NM_000182.5(HADHA):c.431C>T (p.Ser144Phe)
NM_000182.5(HADHA):c.677-3T>C
NM_000182.5(HADHA):c.808G>A (p.Ala270Thr)
NM_000182.5(HADHA):c.896C>A (p.Pro299His)
NM_000182.5(HADHA):c.914T>A (p.Ile305Asn) rs137852774
NM_000183.3(HADHB):c.1115A>T (p.Asp372Val)
NM_000183.3(HADHB):c.1123G>A (p.Ala375Thr)
NM_000183.3(HADHB):c.1390-2A>G rs1297095534
NM_000183.3(HADHB):c.1417C>A (p.Pro473Thr) rs942477332
NM_000183.3(HADHB):c.266A>G (p.His89Arg) rs373356931
NM_000183.3(HADHB):c.362T>C (p.Leu121Pro) rs773127211
NM_000183.3(HADHB):c.397A>G (p.Thr133Ala) rs371159065
NM_000183.3(HADHB):c.565G>A (p.Ala189Thr) rs143683481
NM_000183.3(HADHB):c.584G>A (p.Arg195Gln) rs764507324
NM_000183.3(HADHB):c.589T>C (p.Ser197Pro) rs142475516
NM_000183.3(HADHB):c.754G>A (p.Ala252Thr)
NM_005327.5(HADH):c.100G>C (p.Gly34Arg)
NM_005327.5(HADH):c.266G>A (p.Gly89Asp)
NM_005327.5(HADH):c.349G>C (p.Val117Leu)
NM_005327.5(HADH):c.676T>C (p.Tyr226His) rs146036912
NM_005327.5(HADH):c.908G>T (p.Gly303Val)
NM_005327.7(HADH):c.479C>T (p.Thr160Ile)
NM_005327.7(HADH):c.494G>A (p.Arg165Gln)
Single allele

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