ClinVar Miner

List of variants in gene HADHA studied for 3-hydroxyacyl-CoA dehydrogenase deficiency

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 90
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HGVS dbSNP
NC_000002.11:g.(?_26414109)_(26462021_?)del
NC_000002.12:g.(?_26236845)_(26239153_?)del
NM_000182.4(HADHA):c.-37T>C rs528818728
NM_000182.5(HADHA):c.-1G>T rs72809666
NM_000182.5(HADHA):c.-25C>G rs184300489
NM_000182.5(HADHA):c.1014C>T (p.Ala338=) rs748021991
NM_000182.5(HADHA):c.1025T>C (p.Leu342Pro) rs137852772
NM_000182.5(HADHA):c.1044G>A (p.Leu348=) rs1574612640
NM_000182.5(HADHA):c.1052del (p.Lys351fs) rs1057516556
NM_000182.5(HADHA):c.1072C>A (p.Gln358Lys) rs2229420
NM_000182.5(HADHA):c.1086-3_1092del rs1057516460
NM_000182.5(HADHA):c.1132C>T (p.Gln378Ter) rs137852770
NM_000182.5(HADHA):c.1140C>T (p.Ser380=) rs199727889
NM_000182.5(HADHA):c.1162A>T (p.Ile388Leu)
NM_000182.5(HADHA):c.1195C>T (p.Arg399Ter) rs1243779049
NM_000182.5(HADHA):c.1196G>A (p.Arg399Gln) rs200715496
NM_000182.5(HADHA):c.1202del (p.Gln401fs) rs1057517087
NM_000182.5(HADHA):c.1209A>G (p.Gln403=) rs780178287
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.129dup (p.Gly44fs) rs1298883200
NM_000182.5(HADHA):c.157C>A (p.Arg53=) rs147103714
NM_000182.5(HADHA):c.157C>T (p.Arg53Ter) rs147103714
NM_000182.5(HADHA):c.16G>C (p.Ala6Pro) rs150565988
NM_000182.5(HADHA):c.180+1G>A rs786205088
NM_000182.5(HADHA):c.180+3A>G rs781222705
NM_000182.5(HADHA):c.189A>G (p.Thr63=) rs748187062
NM_000182.5(HADHA):c.1A>G (p.Met1Val) rs1057517430
NM_000182.5(HADHA):c.240G>A (p.Trp80Ter) rs1057516326
NM_000182.5(HADHA):c.264C>T (p.Ala88=) rs755713464
NM_000182.5(HADHA):c.274_278del (p.Ser92fs) rs781205883
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.315-1G>A rs1458898996
NM_000182.5(HADHA):c.325G>A (p.Ala109Thr) rs368388214
NM_000182.5(HADHA):c.3G>A (p.Met1Ile) rs1237270916
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.453+1G>A rs1057516417
NM_000182.5(HADHA):c.454-13C>T rs367636661
NM_000182.5(HADHA):c.474C>T (p.Tyr158=) rs11552518
NM_000182.5(HADHA):c.515del (p.Pro172fs) rs1057517282
NM_000182.5(HADHA):c.539C>T (p.Pro180Leu) rs1574624062
NM_000182.5(HADHA):c.560G>C (p.Arg187Thr) rs146667859
NM_000182.5(HADHA):c.573+8dup rs112196218
NM_000182.5(HADHA):c.574-2A>G
NM_000182.5(HADHA):c.574-4dup rs763636903
NM_000182.5(HADHA):c.585T>A (p.Pro195=) rs202034466
NM_000182.5(HADHA):c.589G>T (p.Ala197Ser) rs116320983
NM_000182.5(HADHA):c.612dup (p.Arg205Ter) rs1574623071
NM_000182.5(HADHA):c.646_657dup (p.Gly216_Asp219dup) rs1316714458
NM_000182.5(HADHA):c.64C>T (p.Arg22Ter) rs1300516636
NM_000182.5(HADHA):c.652G>C (p.Val218Leu) rs71441018
NM_000182.5(HADHA):c.661C>T (p.Leu221=) rs1574623021
NM_000182.5(HADHA):c.676+2T>C rs772683361
NM_000182.5(HADHA):c.676+6T>C rs886055863
NM_000182.5(HADHA):c.677-1G>A rs1553314070
NM_000182.5(HADHA):c.677-3T>C rs376306806
NM_000182.5(HADHA):c.68-10T>G rs144414842
NM_000182.5(HADHA):c.6_24dup (p.Ile9fs) rs1456890163
NM_000182.5(HADHA):c.703C>T (p.Arg235Trp) rs786204607
NM_000182.5(HADHA):c.72del (p.Gly23_Tyr24insTer) rs1553316176
NM_000182.5(HADHA):c.777G>A (p.Lys259=) rs142071869
NM_000182.5(HADHA):c.799+8T>A rs1451443100
NM_000182.5(HADHA):c.79C>T (p.Arg27Cys) rs143832445
NM_000182.5(HADHA):c.800-1G>T rs1553314024
NM_000182.5(HADHA):c.800-1_801del rs1553314023
NM_000182.5(HADHA):c.808G>A (p.Ala270Thr) rs1574615066
NM_000182.5(HADHA):c.809C>T (p.Ala270Val) rs141429393
NM_000182.5(HADHA):c.80G>T (p.Arg27Leu)
NM_000182.5(HADHA):c.810G>A (p.Ala270=) rs376632479
NM_000182.5(HADHA):c.816C>A (p.Ala272=) rs764851270
NM_000182.5(HADHA):c.844_845insA (p.Val282fs) rs774235292
NM_000182.5(HADHA):c.845T>A (p.Val282Asp) rs137852773
NM_000182.5(HADHA):c.858G>A (p.Val286=) rs373864418
NM_000182.5(HADHA):c.869T>C (p.Val290Ala)
NM_000182.5(HADHA):c.871C>T (p.Arg291Ter) rs137852775
NM_000182.5(HADHA):c.882T>C (p.Thr294=) rs769959246
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.919-2A>G rs200017313
NM_000182.5(HADHA):c.932G>C (p.Gly311Ala) rs886055862
NM_000182.5(HADHA):c.954C>T (p.Ala318=) rs755595692
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
Single allele

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