ClinVar Miner

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

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 160
Download table as spreadsheet
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.*202G>A rs7260
NM_000182.5(HADHA):c.*239C>T
NM_000182.5(HADHA):c.*302G>A rs1049987
NM_000182.5(HADHA):c.*331T>C
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.*510A>T rs13432453
NM_000182.5(HADHA):c.*561C>T
NM_000182.5(HADHA):c.*586G>A
NM_000182.5(HADHA):c.*59C>T
NM_000182.5(HADHA):c.-1G>T rs72809666
NM_000182.5(HADHA):c.-25C>G rs184300489
NM_000182.5(HADHA):c.1072C>A (p.Gln358Lys) rs2229420
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.1392+10G>A rs60085478
NM_000182.5(HADHA):c.1620+11G>C rs112236946
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.1690-14C>T rs142401180
NM_000182.5(HADHA):c.1690-6G>A rs111662358
NM_000182.5(HADHA):c.16G>C (p.Ala6Pro) rs150565988
NM_000182.5(HADHA):c.1788G>A (p.Ala596=) rs190409957
NM_000182.5(HADHA):c.1794T>C (p.His598=) rs149021400
NM_000182.5(HADHA):c.1829G>A (p.Arg610Gln) rs373966336
NM_000182.5(HADHA):c.189A>G (p.Thr63=)
NM_000182.5(HADHA):c.1912A>G (p.Ile638Val) rs545660610
NM_000182.5(HADHA):c.1947T>A (p.Asn649Lys)
NM_000182.5(HADHA):c.1981C>T (p.Leu661=) rs142348718
NM_000182.5(HADHA):c.2037A>G (p.Thr679=)
NM_000182.5(HADHA):c.2060T>C (p.Met687Thr)
NM_000182.5(HADHA):c.2113G>A (p.Val705Ile) rs146406360
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.27C>T (p.Ile9=)
NM_000182.5(HADHA):c.325G>A (p.Ala109Thr)
NM_000182.5(HADHA):c.41C>T (p.Ser14Phe)
NM_000182.5(HADHA):c.454-13C>T rs367636661
NM_000182.5(HADHA):c.474C>T (p.Tyr158=) rs11552518
NM_000182.5(HADHA):c.560G>C (p.Arg187Thr) rs146667859
NM_000182.5(HADHA):c.585T>A (p.Pro195=) rs202034466
NM_000182.5(HADHA):c.652G>C (p.Val218Leu) rs71441018
NM_000182.5(HADHA):c.676+6T>C rs886055863
NM_000182.5(HADHA):c.68-10T>G rs144414842
NM_000182.5(HADHA):c.79C>T (p.Arg27Cys) rs143832445
NM_000182.5(HADHA):c.858G>A (p.Val286=) rs373864418
NM_000182.5(HADHA):c.869T>C (p.Val290Ala)
NM_000182.5(HADHA):c.932G>C (p.Gly311Ala) rs886055862
NM_000183.3(HADHB):c.*136G>C rs1056471
NM_000183.3(HADHB):c.*196A>G rs7586822
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.*351C>G rs7575987
NM_000183.3(HADHB):c.*380A>G rs886055870
NM_000183.3(HADHB):c.*43C>T
NM_000183.3(HADHB):c.*486G>A rs7601689
NM_000183.3(HADHB):c.*500G>A
NM_000183.3(HADHB):c.*52A>G rs183649494
NM_000183.3(HADHB):c.-53C>T
NM_000183.3(HADHB):c.-9+11G>C rs886055866
NM_000183.3(HADHB):c.1014-14A>G rs17528590
NM_000183.3(HADHB):c.1148C>T (p.Ser383Leu) rs144711755
NM_000183.3(HADHB):c.1149+4A>T rs2303893
NM_000183.3(HADHB):c.1206C>T (p.Tyr402=)
NM_000183.3(HADHB):c.1336C>T (p.Arg446Trp)
NM_000183.3(HADHB):c.1343A>G (p.Glu448Gly)
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.210-5C>A rs763169112
NM_000183.3(HADHB):c.246A>G (p.Ala82=) rs151302743
NM_000183.3(HADHB):c.272C>T (p.Thr91Ile) rs145712438
NM_000183.3(HADHB):c.397A>G (p.Thr133Ala) rs371159065
NM_000183.3(HADHB):c.443-10T>C
NM_000183.3(HADHB):c.560A>G (p.Asn187Ser) rs138696018
NM_000183.3(HADHB):c.589T>C (p.Ser197Pro) rs142475516
NM_000183.3(HADHB):c.5_7dup (p.Thr2dup) rs3839049
NM_000183.3(HADHB):c.635C>T (p.Pro212Leu)
NM_000183.3(HADHB):c.64+11T>C rs57709136
NM_000183.3(HADHB):c.64+15A>T
NM_000183.3(HADHB):c.640G>A (p.Val214Ile)
NM_000183.3(HADHB):c.712C>T (p.Arg238Trp) rs764006338
NM_000183.3(HADHB):c.780C>T (p.Leu260=) rs7607527
NM_000183.3(HADHB):c.812-5A>T rs72851534
NM_000183.3(HADHB):c.825T>C (p.Val275=) rs1056389
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_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.-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_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.-185G>C rs367712851
NM_001281512.1(HADHB):c.-201G>A rs3806516
NM_001281512.1(HADHB):c.-202G>A rs886055865
NM_001281512.1(HADHB):c.-214C>T rs72809668
NM_001281512.1(HADHB):c.-235del rs886055864
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)
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)

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.