ClinVar Miner

List of variants studied 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: 122
Download table as spreadsheet
HGVS dbSNP
NC_000002.11:g.(?_26414109)_(26462021_?)del
NC_000002.12:g.(?_26236845)_(26239153_?)del
NM_000182.5(HADHA):c.1014C>T (p.Ala338=) rs748021991
NM_000182.5(HADHA):c.1044G>A (p.Leu348=) rs1574612640
NM_000182.5(HADHA):c.1072C>A (p.Gln358Lys) rs2229420
NM_000182.5(HADHA):c.1086-3_1092del rs1057516460
NM_000182.5(HADHA):c.1140C>T (p.Ser380=) rs199727889
NM_000182.5(HADHA):c.1162A>T (p.Ile388Leu)
NM_000182.5(HADHA):c.1196G>A (p.Arg399Gln) rs200715496
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.1284C>T (p.Asn428=) rs199535840
NM_000182.5(HADHA):c.1389A>G (p.Glu463=) rs772078762
NM_000182.5(HADHA):c.1392+10G>A rs60085478
NM_000182.5(HADHA):c.1465A>G (p.Lys489Glu) rs145422395
NM_000182.5(HADHA):c.1528G>C (p.Glu510Gln) rs137852769
NM_000182.5(HADHA):c.157C>A (p.Arg53=) rs147103714
NM_000182.5(HADHA):c.1620+9C>G rs772786562
NM_000182.5(HADHA):c.1620+9C>T rs772786562
NM_000182.5(HADHA):c.1621-7T>C rs774272303
NM_000182.5(HADHA):c.1629T>C (p.Pro543=) rs1056729658
NM_000182.5(HADHA):c.1644del (p.Arg549fs) rs1267615713
NM_000182.5(HADHA):c.1678C>T (p.Arg560Ter) rs137852771
NM_000182.5(HADHA):c.1690-17_1690-2del
NM_000182.5(HADHA):c.1690-6G>A rs111662358
NM_000182.5(HADHA):c.1712T>C (p.Leu571Pro) rs1553312058
NM_000182.5(HADHA):c.1720_1721del (p.Leu574fs)
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.1793_1794del (p.His598fs) rs769580842
NM_000182.5(HADHA):c.1794T>C (p.His598=) rs149021400
NM_000182.5(HADHA):c.180+3A>G rs781222705
NM_000182.5(HADHA):c.1843A>G (p.Asn615Asp) rs61731155
NM_000182.5(HADHA):c.1854G>C (p.Leu618=) rs201393639
NM_000182.5(HADHA):c.189A>G (p.Thr63=) rs748187062
NM_000182.5(HADHA):c.1935G>A (p.Arg645=) rs762246988
NM_000182.5(HADHA):c.1947T>A (p.Asn649Lys) rs777153382
NM_000182.5(HADHA):c.1971G>A (p.Ala657=) rs570854524
NM_000182.5(HADHA):c.1981C>T (p.Leu661=) rs142348718
NM_000182.5(HADHA):c.2000+1G>C rs1167218743
NM_000182.5(HADHA):c.2000+9G>A rs200802583
NM_000182.5(HADHA):c.2060T>C (p.Met687Thr) rs149632783
NM_000182.5(HADHA):c.2112C>T (p.Ala704=) rs754294789
NM_000182.5(HADHA):c.2133G>A (p.Pro711=) rs186499456
NM_000182.5(HADHA):c.2147-8C>G rs368976628
NM_000182.5(HADHA):c.2175C>T (p.Gly725=) rs375399631
NM_000182.5(HADHA):c.2215G>T (p.Ala739Ser) rs141164185
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.325G>A (p.Ala109Thr) rs368388214
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.573+8dup rs112196218
NM_000182.5(HADHA):c.574-2A>G
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.652G>C (p.Val218Leu) rs71441018
NM_000182.5(HADHA):c.661C>T (p.Leu221=) rs1574623021
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.777G>A (p.Lys259=) rs142071869
NM_000182.5(HADHA):c.799+8T>A rs1451443100
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.858G>A (p.Val286=) rs373864418
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.954C>T (p.Ala318=) rs755595692
NM_000183.3(HADHB):c.1098A>T (p.Ala366=) rs748353295
NM_000183.3(HADHB):c.1115A>T (p.Asp372Val)
NM_000183.3(HADHB):c.1119T>C (p.Ile373=) rs77943157
NM_000183.3(HADHB):c.1123G>A (p.Ala375Thr)
NM_000183.3(HADHB):c.1206C>T (p.Tyr402=) rs146538551
NM_000183.3(HADHB):c.135G>A (p.Thr45=) rs574464531
NM_000183.3(HADHB):c.1371G>A (p.Ala457=) rs72851542
NM_000183.3(HADHB):c.1390-2A>G rs1297095534
NM_000183.3(HADHB):c.1417C>A (p.Pro473Thr) rs942477332
NM_000183.3(HADHB):c.209+7A>G rs773618132
NM_000183.3(HADHB):c.210-9G>A rs538575997
NM_000183.3(HADHB):c.246A>G (p.Ala82=) rs151302743
NM_000183.3(HADHB):c.255-2A>G
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.423C>T (p.Ala141=) rs374569092
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.631-2A>C rs1574663316
NM_000183.3(HADHB):c.685C>T (p.Arg229Ter) rs759136382
NM_000183.3(HADHB):c.754G>A (p.Ala252Thr) rs770044899
NM_000183.3(HADHB):c.780C>T (p.Leu260=) rs7607527
NM_000183.3(HADHB):c.812-5A>T rs72851534
NM_000183.3(HADHB):c.830A>G (p.Lys277Arg) rs57969630
NM_000183.3(HADHB):c.891C>T (p.Ile297=) rs56902571
NM_000183.3(HADHB):c.900C>T (p.Tyr300=) rs144093705
NM_000183.3(HADHB):c.966G>A (p.Ala322=) rs7572240
NM_005327.5(HADH):c.100G>C (p.Gly34Arg) rs779135938
NM_005327.5(HADH):c.257= (p.Leu86=) rs4956145
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.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.881A>G (p.Asn294Ser) rs36030668
NM_005327.5(HADH):c.908G>T (p.Gly303Val) rs575378007
NM_005327.7(HADH):c.479C>T (p.Thr160Ile)
NM_005327.7(HADH):c.494G>A (p.Arg165Gln)
NM_005327.7(HADH):c.614G>C (p.Gly205Ala) rs144699575
NM_005327.7(HADH):c.99C>G (p.Ile33Met) rs74428123
Single allele

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.