ClinVar Miner

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

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 167
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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_000182.4(HADHA):c.-37T>C rs528818728
NM_000182.5(HADHA):c.*103A>T
NM_000182.5(HADHA):c.*110G>A
NM_000182.5(HADHA):c.*182C>T
NM_000182.5(HADHA):c.*239C>T
NM_000182.5(HADHA):c.*355C>T rs539549041
NM_000182.5(HADHA):c.*373_*374GT[1] rs886055861
NM_000182.5(HADHA):c.*389C>G rs886055860
NM_000182.5(HADHA):c.*403C>T
NM_000182.5(HADHA):c.*405C>T rs886055859
NM_000182.5(HADHA):c.*437T>A
NM_000182.5(HADHA):c.*458_*459TG[3] rs146500488
NM_000182.5(HADHA):c.*46G>A
NM_000182.5(HADHA):c.*489G>A rs886055857
NM_000182.5(HADHA):c.*494G>T rs886055856
NM_000182.5(HADHA):c.*586G>A
NM_000182.5(HADHA):c.*59C>T
NM_000182.5(HADHA):c.1162A>T (p.Ile388Leu)
NM_000182.5(HADHA):c.1196G>A (p.Arg399Gln) rs200715496
NM_000182.5(HADHA):c.1212G>C (p.Val404=) rs116396996
NM_000182.5(HADHA):c.1220+2_1220+5dup rs1553313192
NM_000182.5(HADHA):c.1284C>T (p.Asn428=) rs199535840
NM_000182.5(HADHA):c.1493A>G (p.His498Arg) rs752005568
NM_000182.5(HADHA):c.1637A>G (p.Tyr546Cys) rs370170143
NM_000182.5(HADHA):c.1655C>T (p.Ala552Val) rs369588406
NM_000182.5(HADHA):c.1689+11C>T
NM_000182.5(HADHA):c.1690-13G>A rs368557552
NM_000182.5(HADHA):c.16G>C (p.Ala6Pro) rs150565988
NM_000182.5(HADHA):c.1705_1707AAG[1] (p.Lys570del) rs1553312059
NM_000182.5(HADHA):c.1712T>C (p.Leu571Pro) rs1553312058
NM_000182.5(HADHA):c.1772T>G (p.Val591Gly) rs1574602310
NM_000182.5(HADHA):c.1788G>A (p.Ala596=) rs190409957
NM_000182.5(HADHA):c.1789A>G (p.Lys597Glu)
NM_000182.5(HADHA):c.1794T>C (p.His598=) rs149021400
NM_000182.5(HADHA):c.1828C>G (p.Arg610Gly) rs267599303
NM_000182.5(HADHA):c.1829G>A (p.Arg610Gln) rs373966336
NM_000182.5(HADHA):c.189A>G (p.Thr63=) rs748187062
NM_000182.5(HADHA):c.1912A>G (p.Ile638Val) rs545660610
NM_000182.5(HADHA):c.1917_1919dup (p.Gln640_Glu641insHis) rs796051971
NM_000182.5(HADHA):c.1947T>A (p.Asn649Lys) rs777153382
NM_000182.5(HADHA):c.2037A>G (p.Thr679=)
NM_000182.5(HADHA):c.2102A>G (p.Asp701Gly) rs1553311698
NM_000182.5(HADHA):c.2107G>A (p.Gly703Arg) rs200438844
NM_000182.5(HADHA):c.2113G>A (p.Val705Ile) rs146406360
NM_000182.5(HADHA):c.2114T>A (p.Val705Asp) rs1240187200
NM_000182.5(HADHA):c.2131C>T (p.Pro711Ser) rs138966725
NM_000182.5(HADHA):c.2147-8C>G rs368976628
NM_000182.5(HADHA):c.2175C>T (p.Gly725=) rs375399631
NM_000182.5(HADHA):c.2192A>T (p.Asp731Val)
NM_000182.5(HADHA):c.2215G>T (p.Ala739Ser) rs141164185
NM_000182.5(HADHA):c.2226_2228dup (p.Gln743dup) rs1553311646
NM_000182.5(HADHA):c.2241C>A (p.Cys747Ter) rs768855989
NM_000182.5(HADHA):c.2273_2276dup (p.Lys760fs) rs1553311633
NM_000182.5(HADHA):c.27C>T (p.Ile9=)
NM_000182.5(HADHA):c.2_4TGG[1] (p.Val2del) rs1553316724
NM_000182.5(HADHA):c.325G>A (p.Ala109Thr) rs368388214
NM_000182.5(HADHA):c.403A>G (p.Lys135Glu) rs794727700
NM_000182.5(HADHA):c.41C>T (p.Ser14Phe)
NM_000182.5(HADHA):c.425A>G (p.Asn142Ser) rs200549951
NM_000182.5(HADHA):c.431C>T (p.Ser144Phe)
NM_000182.5(HADHA):c.454-13C>T rs367636661
NM_000182.5(HADHA):c.560G>C (p.Arg187Thr) rs146667859
NM_000182.5(HADHA):c.574-4dup rs763636903
NM_000182.5(HADHA):c.585T>A (p.Pro195=) rs202034466
NM_000182.5(HADHA):c.646_657dup (p.Gly216_Asp219dup) rs1316714458
NM_000182.5(HADHA):c.652G>C (p.Val218Leu) rs71441018
NM_000182.5(HADHA):c.676+6T>C rs886055863
NM_000182.5(HADHA):c.677-3T>C rs376306806
NM_000182.5(HADHA):c.79C>T (p.Arg27Cys) rs143832445
NM_000182.5(HADHA):c.808G>A (p.Ala270Thr) rs1574615066
NM_000182.5(HADHA):c.858G>A (p.Val286=) rs373864418
NM_000182.5(HADHA):c.869T>C (p.Val290Ala)
NM_000182.5(HADHA):c.896C>A (p.Pro299His)
NM_000182.5(HADHA):c.914T>A (p.Ile305Asn) rs137852774
NM_000182.5(HADHA):c.914T>C (p.Ile305Thr) rs137852774
NM_000182.5(HADHA):c.932G>C (p.Gly311Ala) rs886055862
NM_000182.5(HADHA):c.955G>A (p.Gly319Ser) rs752317877
NM_000182.5(HADHA):c.975G>A (p.Gln325=) rs751970693
NM_000182.5(HADHA):c.982G>A (p.Gly328Arg) rs796051970
NM_000183.3(HADHB):c.*241T>G rs886055867
NM_000183.3(HADHB):c.*244T>G rs886055868
NM_000183.3(HADHB):c.*268G>A rs886055869
NM_000183.3(HADHB):c.*380A>G rs886055870
NM_000183.3(HADHB):c.*43C>T
NM_000183.3(HADHB):c.-53C>T
NM_000183.3(HADHB):c.-9+11G>C rs886055866
NM_000183.3(HADHB):c.1115A>T (p.Asp372Val)
NM_000183.3(HADHB):c.1123G>A (p.Ala375Thr)
NM_000183.3(HADHB):c.1148C>T (p.Ser383Leu) rs144711755
NM_000183.3(HADHB):c.1206C>T (p.Tyr402=) rs146538551
NM_000183.3(HADHB):c.1336C>T (p.Arg446Trp)
NM_000183.3(HADHB):c.1343A>G (p.Glu448Gly)
NM_000183.3(HADHB):c.1390-2A>G rs1297095534
NM_000183.3(HADHB):c.1417C>A (p.Pro473Thr) rs942477332
NM_000183.3(HADHB):c.210-5C>A rs763169112
NM_000183.3(HADHB):c.266A>G (p.His89Arg) rs373356931
NM_000183.3(HADHB):c.272C>T (p.Thr91Ile) rs145712438
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.443-10T>C
NM_000183.3(HADHB):c.491G>A (p.Gly164Asp) rs1558356679
NM_000183.3(HADHB):c.560A>G (p.Asn187Ser) rs138696018
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.635C>T (p.Pro212Leu)
NM_000183.3(HADHB):c.64+15A>T
NM_000183.3(HADHB):c.640G>A (p.Val214Ile)
NM_000183.3(HADHB):c.694G>A (p.Ala232Thr) rs987203346
NM_000183.3(HADHB):c.712C>T (p.Arg238Trp) rs764006338
NM_000183.3(HADHB):c.754G>A (p.Ala252Thr) rs770044899
NM_000183.3(HADHB):c.900C>T (p.Tyr300=) rs144093705
NM_000183.3(HADHB):c.919A>G (p.Asn307Asp) rs769558977
NM_000183.3(HADHB):c.994A>G (p.Lys332Glu)
NM_001184705.2(HADH):c.-102G>A rs182097151
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_001281512.1(HADHB):c.-124C>G rs575302805
NM_001281512.1(HADHB):c.-173T>C rs749979964
NM_001281512.1(HADHB):c.-176G>T rs574318006
NM_001281512.1(HADHB):c.-202G>A rs886055865
NM_001281512.1(HADHB):c.-235del rs886055864
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.100G>C (p.Gly34Arg) rs779135938
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.266G>A (p.Gly89Asp) rs1292646768
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.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.72G>A (p.Lys24=) rs781319494
NM_005327.5(HADH):c.889G>A (p.Val297Ile) rs376876153
NM_005327.5(HADH):c.908G>T (p.Gly303Val) rs575378007
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.479C>T (p.Thr160Ile)
NM_005327.7(HADH):c.494G>A (p.Arg165Gln)
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)
Single allele

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