ClinVar Miner

List of variants studied for Deficiency of 3-hydroxyacyl-CoA dehydrogenase by Illumina Clinical Services Laboratory,Illumina

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Total variants: 48
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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.-102G>A rs182097151
NM_001184705.2(HADH):c.-115del rs537335460
NM_001184705.2(HADH):c.-193G>A rs10017687
NM_001184705.2(HADH):c.-195A>C rs886058979
NM_001184705.2(HADH):c.-195A>G rs886058979
NM_001184705.2(HADH):c.-51del rs574132278
NM_001184705.2(HADH):c.-65G>A rs28703310
NM_001184705.2(HADH):c.-71C>T rs760202
NM_001331027.1(HADH):c.*818A>G rs17511319
NM_005327.5(HADH):c.*109T>A rs221347
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.-38T>C rs17550794
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.275T>G (p.Phe92Cys) rs61735992
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.636+13G>A rs17511214
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.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.*168A>T
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.*383G>C
NM_005327.7(HADH):c.*514A>G
NM_005327.7(HADH):c.-34C>T
NM_005327.7(HADH):c.132+6C>G
NM_005327.7(HADH):c.133-15C>T
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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