ClinVar Miner

List of variants reported as uncertain significance for Deficiency of 3-hydroxyacyl-CoA dehydrogenase by Illumina Clinical Services Laboratory,Illumina

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Total variants: 34
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HGVS dbSNP
NC_000004.12:g.107989730A>G
NC_000004.12:g.107989847G>T
NC_000004.12:g.107989877C>A
NM_001184705.2(HADH):c.-115del rs537335460
NM_001184705.2(HADH):c.-195A>C rs886058979
NM_001184705.2(HADH):c.-195A>G rs886058979
NM_001184705.2(HADH):c.-51del rs574132278
NM_005327.5(HADH):c.*305T>A rs3822294
NM_005327.5(HADH):c.*59G>A rs529762487
NM_005327.5(HADH):c.*600C>T rs544321475
NM_005327.5(HADH):c.*661dup rs886058981
NM_005327.5(HADH):c.-36C>T rs746854470
NM_005327.5(HADH):c.132+7G>T rs534966818
NM_005327.5(HADH):c.21G>A (p.Gln7=) rs886058980
NM_005327.5(HADH):c.240G>A (p.Lys80=) rs748623569
NM_005327.5(HADH):c.291G>T (p.Leu97=) rs552317372
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.72G>A (p.Lys24=) rs781319494
NM_005327.5(HADH):c.889G>A (p.Val297Ile) rs376876153
NM_005327.7(HADH):c.*142G>A
NM_005327.7(HADH):c.*279C>A
NM_005327.7(HADH):c.*335C>A
NM_005327.7(HADH):c.*377G>A
NM_005327.7(HADH):c.-34C>T
NM_005327.7(HADH):c.132+6C>G
NM_005327.7(HADH):c.159A>G (p.Val53=)
NM_005327.7(HADH):c.264C>T (p.Ala88=)
NM_005327.7(HADH):c.688G>A (p.Ala230Thr)
NM_005327.7(HADH):c.710-14C>T
NM_005327.7(HADH):c.809C>T (p.Thr270Met)
NM_005327.7(HADH):c.823G>A (p.Asp275Asn)
NM_005327.7(HADH):c.825T>G (p.Asp275Glu)

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