ClinVar Miner

List of variants studied for Deficiency of 3-hydroxyacyl-CoA dehydrogenase

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 266
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005327.7(HADH):c.257T>C (p.Leu86Pro) rs4956145 0.86661
NM_005327.7(HADH):c.-38T>C rs17550794 0.13904
NM_005327.7(HADH):c.257= (p.Leu86=) rs4956145 0.13339
NM_005327.7(HADH):c.*109T>A rs221347 0.07950
NM_005327.7(HADH):c.636+13G>A rs17511214 0.04139
NM_005327.4(HADH):c.*818A>G rs17511319 0.03973
NM_005327.4(HADH):c.-71C>T rs760202 0.02185
NM_005327.4(HADH):c.-193G>A rs10017687 0.02168
NM_005327.4(HADH):c.-65G>A rs28703310 0.01115
NM_005327.7(HADH):c.881A>G (p.Asn294Ser) rs36030668 0.00738
NM_005327.7(HADH):c.275T>G (p.Phe92Cys) rs61735992 0.00516
NM_005327.7(HADH):c.662G>A (p.Arg221His) rs76476980 0.00358
NM_005327.4(HADH):c.-102G>A rs182097151 0.00354
NM_005327.7(HADH):c.643C>A (p.Pro215Thr) rs140413151 0.00198
NM_005327.7(HADH):c.456G>T (p.Gln152His) rs1051519 0.00195
NM_005327.7(HADH):c.*377G>A rs148809781 0.00084
NM_005327.7(HADH):c.614G>C (p.Gly205Ala) rs144699575 0.00079
NM_005327.7(HADH):c.*600C>T rs544321475 0.00077
NM_005327.4(HADH):c.-51delC rs574132278 0.00074
NM_005327.7(HADH):c.*168A>T rs532458283 0.00062
NM_005327.4(HADH):c.-115delG rs537335460 0.00053
NM_005327.4(HADH):c.-203A>G rs376591232 0.00049
NM_005327.7(HADH):c.99C>G (p.Ile33Met) rs74428123 0.00038
NM_005327.7(HADH):c.349G>C (p.Val117Leu) rs146732064 0.00035
NM_005327.7(HADH):c.*514A>G rs183594888 0.00020
NM_005327.7(HADH):c.809C>T (p.Thr270Met) rs577954688 0.00017
NM_005327.7(HADH):c.255C>T (p.Asn85=) rs746650397 0.00016
NM_005327.7(HADH):c.133-15C>T rs190144364 0.00013
NM_005327.7(HADH):c.*142G>A rs560215584 0.00011
NM_005327.7(HADH):c.144A>C (p.Ala48=) rs79881095 0.00011
NM_005327.7(HADH):c.827-10C>T rs372610846 0.00011
NM_005327.7(HADH):c.676T>C (p.Tyr226His) rs146036912 0.00010
NM_005327.7(HADH):c.-34C>T rs748286204 0.00009
NM_005327.7(HADH):c.*305T>A rs3822294 0.00008
NM_005327.7(HADH):c.240G>A (p.Lys80=) rs748623569 0.00008
NM_005327.7(HADH):c.*335C>A rs780532720 0.00006
NM_005327.7(HADH):c.361G>A (p.Val121Met) rs377615662 0.00006
NM_005327.7(HADH):c.132+7G>T rs534966818 0.00005
NM_005327.7(HADH):c.709+18G>A rs369931989 0.00005
NM_005327.7(HADH):c.*59G>A rs529762487 0.00004
NM_005327.7(HADH):c.324C>T (p.Ser108=) rs373153417 0.00004
NM_005327.7(HADH):c.384C>T (p.Asn128=) rs369550874 0.00004
NM_005327.7(HADH):c.710-14C>T rs185267497 0.00004
NM_005327.7(HADH):c.795C>T (p.Val265=) rs143416676 0.00004
NM_005327.7(HADH):c.820G>A (p.Val274Met) rs543440046 0.00004
NM_005327.7(HADH):c.907G>A (p.Gly303Ser) rs201772964 0.00004
NM_005327.7(HADH):c.908G>T (p.Gly303Val) rs575378007 0.00004
NM_005327.7(HADH):c.325G>A (p.Val109Ile) rs199810422 0.00003
NM_005327.7(HADH):c.47C>T (p.Ser16Phe) rs374248298 0.00003
NM_005327.7(HADH):c.486A>G (p.Arg162=) rs377521547 0.00003
NM_005327.7(HADH):c.706C>T (p.Arg236Ter) rs375717077 0.00003
NM_005327.7(HADH):c.714C>T (p.Asp238=) rs201739885 0.00003
NM_005327.7(HADH):c.261+17G>A rs185657456 0.00002
NM_005327.7(HADH):c.34G>A (p.Val12Met) rs139920805 0.00002
NM_005327.7(HADH):c.479C>T (p.Thr160Ile) rs780252799 0.00002
NM_005327.7(HADH):c.757G>A (p.Gly253Ser) rs749276908 0.00002
NM_005327.7(HADH):c.817A>G (p.Ile273Val) rs1404810726 0.00002
NM_005327.7(HADH):c.827-9G>A rs1363052334 0.00002
NM_005327.7(HADH):c.863A>C (p.Gln288Pro) rs751120678 0.00002
NM_005327.4(HADH):c.-86G>T rs528952923 0.00001
NM_005327.7(HADH):c.*279C>A rs1290272212 0.00001
NM_005327.7(HADH):c.*383G>C rs550706321 0.00001
NM_005327.7(HADH):c.-36C>T rs746854470 0.00001
NM_005327.7(HADH):c.126T>G (p.Ile42Met) rs1264862903 0.00001
NM_005327.7(HADH):c.159A>G (p.Val53=) rs148846625 0.00001
NM_005327.7(HADH):c.171C>A (p.Asp57Glu) rs137853102 0.00001
NM_005327.7(HADH):c.266G>A (p.Gly89Asp) rs1292646768 0.00001
NM_005327.7(HADH):c.280G>C (p.Glu94Gln) rs1274785101 0.00001
NM_005327.7(HADH):c.283A>G (p.Lys95Glu) rs536173298 0.00001
NM_005327.7(HADH):c.449C>T (p.Ser150Phe) rs1735809175 0.00001
NM_005327.7(HADH):c.494G>A (p.Arg165Gln) rs768880930 0.00001
NM_005327.7(HADH):c.579A>G (p.Thr193=) rs762771153 0.00001
NM_005327.7(HADH):c.696G>A (p.Arg232=) rs747476251 0.00001
NM_005327.7(HADH):c.707G>A (p.Arg236Gln) rs748945961 0.00001
NM_005327.7(HADH):c.72G>A (p.Lys24=) rs781319494 0.00001
NM_005327.7(HADH):c.761A>G (p.Tyr254Cys) rs771071992 0.00001
NM_005327.7(HADH):c.823G>A (p.Asp275Asn) rs150766162 0.00001
NM_005327.7(HADH):c.889G>A (p.Val297Ile) rs376876153 0.00001
NC_000004.11:g.(?_108816710)_(108955513_?)dup
NC_000004.11:g.(?_108911069)_(108955533_?)dup
NC_000004.11:g.(?_108911089)_(108911240_?)del
NC_000004.11:g.(?_108911089)_(108955513_?)del
NM_005327.4(HADH):c.-195A>C rs886058979
NM_005327.4(HADH):c.-195A>G rs886058979
NM_005327.4(HADH):c.-56C>A rs770197760
NM_005327.7(HADH):c.*661dup rs886058981
NM_005327.7(HADH):c.100G>A (p.Gly34Ser) rs779135938
NM_005327.7(HADH):c.100G>C (p.Gly34Arg) rs779135938
NM_005327.7(HADH):c.106G>C (p.Gly36Arg) rs994692222
NM_005327.7(HADH):c.117C>G (p.Gly39=)
NM_005327.7(HADH):c.118G>A (p.Ala40Thr) rs137853101
NM_005327.7(HADH):c.120C>T (p.Ala40=)
NM_005327.7(HADH):c.123C>T (p.Gly41=)
NM_005327.7(HADH):c.126T>C (p.Ile42=)
NM_005327.7(HADH):c.130C>T (p.Gln44Ter)
NM_005327.7(HADH):c.132+15C>A
NM_005327.7(HADH):c.132+16T>A
NM_005327.7(HADH):c.132+19A>G
NM_005327.7(HADH):c.132+6C>G rs772843585
NM_005327.7(HADH):c.133-19T>C
NM_005327.7(HADH):c.133-20T>G
NM_005327.7(HADH):c.134T>C (p.Val45Ala)
NM_005327.7(HADH):c.141A>G (p.Ala47=)
NM_005327.7(HADH):c.144A>T (p.Ala48=) rs79881095
NM_005327.7(HADH):c.156A>G (p.Thr52=)
NM_005327.7(HADH):c.162G>A (p.Val54=)
NM_005327.7(HADH):c.163T>C (p.Leu55=)
NM_005327.7(HADH):c.166_169del (p.Val56fs)
NM_005327.7(HADH):c.180G>A (p.Glu60=)
NM_005327.7(HADH):c.18G>A (p.Arg6=)
NM_005327.7(HADH):c.203dup (p.Ile70fs)
NM_005327.7(HADH):c.21G>A (p.Gln7=) rs886058980
NM_005327.7(HADH):c.220C>T (p.Leu74Phe) rs1735422340
NM_005327.7(HADH):c.235AAG[2] (p.Lys81del) rs763318550
NM_005327.7(HADH):c.237G>A (p.Lys79=) rs150930917
NM_005327.7(HADH):c.243G>T (p.Lys81Asn)
NM_005327.7(HADH):c.246T>C (p.Phe82=)
NM_005327.7(HADH):c.249A>G (p.Ala83=)
NM_005327.7(HADH):c.261+10T>C
NM_005327.7(HADH):c.261+12T>C
NM_005327.7(HADH):c.261+15T>A
NM_005327.7(HADH):c.261+16C>A
NM_005327.7(HADH):c.261+16C>G
NM_005327.7(HADH):c.261+16C>T rs71601073
NM_005327.7(HADH):c.261+18A>T
NM_005327.7(HADH):c.261+19T>A
NM_005327.7(HADH):c.261+1G>A rs1398546361
NM_005327.7(HADH):c.261+20G>A
NM_005327.7(HADH):c.261+2T>A
NM_005327.7(HADH):c.261+7T>A
NM_005327.7(HADH):c.261+8C>G
NM_005327.7(HADH):c.261+8C>T
NM_005327.7(HADH):c.262-19C>T rs2126229206
NM_005327.7(HADH):c.262-2A>G
NM_005327.7(HADH):c.262-5A>C
NM_005327.7(HADH):c.262-5A>G
NM_005327.7(HADH):c.262-6C>T
NM_005327.7(HADH):c.262-8T>C
NM_005327.7(HADH):c.264C>T (p.Ala88=) rs201324954
NM_005327.7(HADH):c.267C>T (p.Gly89=)
NM_005327.7(HADH):c.271G>T (p.Glu91Ter)
NM_005327.7(HADH):c.291G>T (p.Leu97=) rs552317372
NM_005327.7(HADH):c.304_307dup (p.Ser103fs)
NM_005327.7(HADH):c.306C>G (p.Thr102=)
NM_005327.7(HADH):c.311C>T (p.Thr104Met)
NM_005327.7(HADH):c.312G>A (p.Thr104=)
NM_005327.7(HADH):c.315T>C (p.Asp105=)
NM_005327.7(HADH):c.316G>A (p.Ala106Thr)
NM_005327.7(HADH):c.327T>C (p.Val109=)
NM_005327.7(HADH):c.32C>T (p.Ser11Phe)
NM_005327.7(HADH):c.336C>T (p.Ser112=)
NM_005327.7(HADH):c.351G>A (p.Val117=)
NM_005327.7(HADH):c.360C>T (p.Ile120=)
NM_005327.7(HADH):c.366G>A (p.Glu122=)
NM_005327.7(HADH):c.369del (p.Asn123_Leu124insTer)
NM_005327.7(HADH):c.380A>G (p.Lys127Arg) rs1735626197
NM_005327.7(HADH):c.381A>G (p.Lys127=)
NM_005327.7(HADH):c.388C>T (p.Leu130Phe)
NM_005327.7(HADH):c.390C>T (p.Leu130=)
NM_005327.7(HADH):c.39C>T (p.Ser13=)
NM_005327.7(HADH):c.419+12C>G
NM_005327.7(HADH):c.419+14G>A
NM_005327.7(HADH):c.419+16A>T
NM_005327.7(HADH):c.419+18A>G
NM_005327.7(HADH):c.419+19A>G
NM_005327.7(HADH):c.419+1G>A
NM_005327.7(HADH):c.419+1G>C
NM_005327.7(HADH):c.420-10C>T
NM_005327.7(HADH):c.420-17A>G
NM_005327.7(HADH):c.420-19C>T
NM_005327.7(HADH):c.420-4A>G
NM_005327.7(HADH):c.420A>T (p.Glu140Asp)
NM_005327.7(HADH):c.422A>G (p.His141Arg)
NM_005327.7(HADH):c.424dup (p.Thr142fs)
NM_005327.7(HADH):c.426A>G (p.Thr142=)
NM_005327.7(HADH):c.427A>G (p.Ile143Val)
NM_005327.7(HADH):c.443C>T (p.Thr148Ile)
NM_005327.7(HADH):c.450C>T (p.Ser150=)
NM_005327.7(HADH):c.489A>G (p.Gln163=)
NM_005327.7(HADH):c.48C>T (p.Ser16=)
NM_005327.7(HADH):c.493C>T (p.Arg165Ter)
NM_005327.7(HADH):c.497T>A (p.Phe166Tyr)
NM_005327.7(HADH):c.498C>T (p.Phe166=)
NM_005327.7(HADH):c.50C>T (p.Thr17Ile)
NM_005327.7(HADH):c.516del (p.Phe172fs)
NM_005327.7(HADH):c.525G>A (p.Val175=)
NM_005327.7(HADH):c.533T>A (p.Met178Lys)
NM_005327.7(HADH):c.540T>C (p.Leu180=)
NM_005327.7(HADH):c.546+13C>T
NM_005327.7(HADH):c.546+15G>T
NM_005327.7(HADH):c.546+18dup rs2126232168
NM_005327.7(HADH):c.546+9G>A
NM_005327.7(HADH):c.547-10G>T
NM_005327.7(HADH):c.547-19C>A
NM_005327.7(HADH):c.54C>A (p.Ala18=)
NM_005327.7(HADH):c.567C>T (p.Thr189=)
NM_005327.7(HADH):c.587del (p.Ser196fs) rs745727504
NM_005327.7(HADH):c.594A>G (p.Val198=)
NM_005327.7(HADH):c.600T>C (p.Phe200=)
NM_005327.7(HADH):c.612A>G (p.Leu204=)
NM_005327.7(HADH):c.615A>G (p.Gly205=)
NM_005327.7(HADH):c.636+16G>A
NM_005327.7(HADH):c.636+16G>T
NM_005327.7(HADH):c.636+18T>C
NM_005327.7(HADH):c.636+20G>A
NM_005327.7(HADH):c.636+2T>C
NM_005327.7(HADH):c.636+2_636+3insCT rs2126234552
NM_005327.7(HADH):c.636+7G>C
NM_005327.7(HADH):c.637-10C>T
NM_005327.7(HADH):c.637-18T>C
NM_005327.7(HADH):c.637-20T>C
NM_005327.7(HADH):c.637-7A>C
NM_005327.7(HADH):c.639C>T (p.Asp213=)
NM_005327.7(HADH):c.642T>C (p.Thr214=)
NM_005327.7(HADH):c.643C>T (p.Pro215Ser) rs140413151
NM_005327.7(HADH):c.64del (p.Ala22fs)
NM_005327.7(HADH):c.651T>C (p.Phe217=)
NM_005327.7(HADH):c.663C>T (p.Arg221=)
NM_005327.7(HADH):c.664_668del (p.Leu222fs)
NM_005327.7(HADH):c.688G>A (p.Ala230Thr) rs780574282
NM_005327.7(HADH):c.705A>C (p.Glu235Asp)
NM_005327.7(HADH):c.709+17G>A
NM_005327.7(HADH):c.709+2T>C
NM_005327.7(HADH):c.709+8T>A rs2126237037
NM_005327.7(HADH):c.710-11T>A
NM_005327.7(HADH):c.710-11T>G
NM_005327.7(HADH):c.710-13G>A
NM_005327.7(HADH):c.710-14_710-11dup
NM_005327.7(HADH):c.710-15C>T
NM_005327.7(HADH):c.710-18C>T
NM_005327.7(HADH):c.710-19G>A
NM_005327.7(HADH):c.710-1G>A
NM_005327.7(HADH):c.715G>T (p.Ala239Ser) rs746680125
NM_005327.7(HADH):c.725A>G (p.Glu242Gly) rs1736337186
NM_005327.7(HADH):c.740C>T (p.Ala247Val) rs1736337431
NM_005327.7(HADH):c.756C>G (p.Ala252=)
NM_005327.7(HADH):c.756C>T (p.Ala252=)
NM_005327.7(HADH):c.765C>G (p.Pro255=)
NM_005327.7(HADH):c.771C>T (p.Gly257=)
NM_005327.7(HADH):c.774A>G (p.Pro258=)
NM_005327.7(HADH):c.805A>G (p.Thr269Ala) rs1736341112
NM_005327.7(HADH):c.806C>G (p.Thr269Ser) rs754403207
NM_005327.7(HADH):c.810G>A (p.Thr270=)
NM_005327.7(HADH):c.819C>T (p.Ile273=)
NM_005327.7(HADH):c.825T>C (p.Asp275=)
NM_005327.7(HADH):c.825T>G (p.Asp275Glu) rs1736344235
NM_005327.7(HADH):c.826+13del
NM_005327.7(HADH):c.826+8T>C
NM_005327.7(HADH):c.827-18C>T
NM_005327.7(HADH):c.827-20C>G
NM_005327.7(HADH):c.827-20C>T
NM_005327.7(HADH):c.827-4A>C rs1381056065
NM_005327.7(HADH):c.828G>A (p.Gly276=)
NM_005327.7(HADH):c.832C>T (p.His278Tyr)
NM_005327.7(HADH):c.846A>G (p.Ala282=)
NM_005327.7(HADH):c.873A>G (p.Pro291=)
NM_005327.7(HADH):c.875C>T (p.Ser292Phe)
NM_005327.7(HADH):c.87C>T (p.His29=)
NM_005327.7(HADH):c.897G>A (p.Glu299=)
NM_005327.7(HADH):c.8T>C (p.Phe3Ser) rs2126215379
NM_005327.7(HADH):c.906C>G (p.Phe302Leu)
NM_005327.7(HADH):c.906C>T (p.Phe302=)
NM_005327.7(HADH):c.909C>T (p.Gly303=)
NM_005327.7(HADH):c.921A>T (p.Gly307=)
NM_005327.7(HADH):c.93G>A (p.Thr31=)
NM_005327.7(HADH):c.99C>T (p.Ile33=) rs74428123

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.