ClinVar Miner

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

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 342
Download table as spreadsheet
HGVS dbSNP
HADH, 6-BP DEL
HADH, EX1DEL
HADHB, 1-BP INS, 36-BP DEL
NC_000002.11:g.(?_26414109)_(26462021_?)del
NC_000002.12:g.(?_26236845)_(26239153_?)del
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.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.1221-1G>C rs1057516233
NM_000182.5(HADHA):c.1237A>T (p.Lys413Ter) rs1057516461
NM_000182.5(HADHA):c.1284C>T (p.Asn428=) rs199535840
NM_000182.5(HADHA):c.129dup (p.Gly44fs) rs1298883200
NM_000182.5(HADHA):c.1342_1343GT[1] (p.Val448_Phe449insTer) rs1057516734
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.1479+1G>T rs1290945516
NM_000182.5(HADHA):c.1493A>G (p.His498Arg) rs752005568
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.157C>T (p.Arg53Ter) rs147103714
NM_000182.5(HADHA):c.1590del (p.Lys531fs) rs1057516991
NM_000182.5(HADHA):c.1620+11G>C rs112236946
NM_000182.5(HADHA):c.1620+2_1620+6del rs764557236
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.1637A>G (p.Tyr546Cys) rs370170143
NM_000182.5(HADHA):c.1644del (p.Arg549fs) rs1267615713
NM_000182.5(HADHA):c.1645A>G (p.Arg549Gly) rs1574603062
NM_000182.5(HADHA):c.1655C>T (p.Ala552Val) rs369588406
NM_000182.5(HADHA):c.1678C>T (p.Arg560Ter) rs137852771
NM_000182.5(HADHA):c.1689+11C>T
NM_000182.5(HADHA):c.1689+2T>G rs1574602991
NM_000182.5(HADHA):c.1690-13G>A rs368557552
NM_000182.5(HADHA):c.1690-14C>T rs142401180
NM_000182.5(HADHA):c.1690-17_1690-2del
NM_000182.5(HADHA):c.1690-2A>G rs1057516217
NM_000182.5(HADHA):c.1690-6G>A rs111662358
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.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+1G>A rs786205088
NM_000182.5(HADHA):c.180+3A>G rs781222705
NM_000182.5(HADHA):c.1811del (p.Gly604fs) rs747985669
NM_000182.5(HADHA):c.1814_1815del (p.Lys605fs) rs1553312033
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.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.1912A>G (p.Ile638Val) rs545660610
NM_000182.5(HADHA):c.1915_1918del (p.Tyr639fs) rs1057517397
NM_000182.5(HADHA):c.1917_1919dup (p.Gln640_Glu641insHis) rs796051971
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.1959dup (p.Ser654Ter) rs1553311804
NM_000182.5(HADHA):c.1967del (p.Ile655_Leu656insTer) rs779113356
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.1981_1999del (p.Leu661fs) rs749848370
NM_000182.5(HADHA):c.1A>G (p.Met1Val) rs1057517430
NM_000182.5(HADHA):c.2000+1G>C rs1167218743
NM_000182.5(HADHA):c.2000+9G>A rs200802583
NM_000182.5(HADHA):c.2026del (p.Arg676fs) rs1553311716
NM_000182.5(HADHA):c.2037A>G (p.Thr679=)
NM_000182.5(HADHA):c.2059del (p.Met687fs) rs1553311706
NM_000182.5(HADHA):c.2060T>C (p.Met687Thr) rs149632783
NM_000182.5(HADHA):c.2071G>T (p.Glu691Ter) rs1057517132
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.2112C>T (p.Ala704=) rs754294789
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.2132dup (p.Pro712fs) rs1574600309
NM_000182.5(HADHA):c.2133G>A (p.Pro711=) rs186499456
NM_000182.5(HADHA):c.2146+1G>A rs794727219
NM_000182.5(HADHA):c.2146+2T>C rs1057516350
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.2220T>A (p.Tyr740Ter) rs142120825
NM_000182.5(HADHA):c.2222del (p.Gly741fs) rs1553311647
NM_000182.5(HADHA):c.2225_2228dup (p.Phe744fs) rs868816467
NM_000182.5(HADHA):c.2226_2228dup (p.Gln743dup) rs1553311646
NM_000182.5(HADHA):c.2227_2228del (p.Gln743fs) rs1553311645
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.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
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.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.1148C>T (p.Ser383Leu) rs144711755
NM_000183.3(HADHB):c.1149+4A>T rs2303893
NM_000183.3(HADHB):c.1175C>T (p.Ala392Val) rs764623179
NM_000183.3(HADHB):c.1206C>G (p.Tyr402Ter) rs146538551
NM_000183.3(HADHB):c.1206C>T (p.Tyr402=) rs146538551
NM_000183.3(HADHB):c.1331G>A (p.Arg444Lys) rs121913134
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.1364T>G (p.Val455Gly) rs267606859
NM_000183.3(HADHB):c.1371G>A (p.Ala457=) rs72851542
NM_000183.3(HADHB):c.1375G>A (p.Ala459Thr) rs1376342675
NM_000183.3(HADHB):c.1390-2A>G rs1297095534
NM_000183.3(HADHB):c.1417C>A (p.Pro473Thr) rs942477332
NM_000183.3(HADHB):c.182G>A (p.Arg61His) rs121913132
NM_000183.3(HADHB):c.209+1G>A rs113112630
NM_000183.3(HADHB):c.209+7A>G rs773618132
NM_000183.3(HADHB):c.210-5C>A rs763169112
NM_000183.3(HADHB):c.210-9G>A rs538575997
NM_000183.3(HADHB):c.246A>G (p.Ala82=) rs151302743
NM_000183.3(HADHB):c.254+1G>A rs776172237
NM_000183.3(HADHB):c.255-2A>G
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.357dup (p.Ala120fs) rs886037844
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.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.5_7dup (p.Thr2dup) rs3839049
NM_000183.3(HADHB):c.631-2A>C rs1574663316
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.685C>T (p.Arg229Ter) rs759136382
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.740G>A (p.Arg247His) rs121913133
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.788A>G (p.Asp263Gly) rs121913131
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.901G>C (p.Gly301Arg) rs891954464
NM_000183.3(HADHB):c.919A>G (p.Asn307Asp) rs769558977
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.100G>C (p.Gly34Arg) rs779135938
NM_005327.5(HADH):c.118G>A (p.Ala40Thr) rs137853101
NM_005327.5(HADH):c.132+7G>T rs534966818
NM_005327.5(HADH):c.171C>A (p.Asp57Glu) rs137853102
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.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.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.636+13G>A rs17511214
NM_005327.5(HADH):c.636+471G>T rs786200932
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.706C>T (p.Arg236Ter) rs375717077
NM_005327.5(HADH):c.72G>A (p.Lys24=) rs781319494
NM_005327.5(HADH):c.773C>T (p.Pro258Leu) rs137853103
NM_005327.5(HADH):c.881A>G (p.Asn294Ser) rs36030668
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.261+1G>A rs1398546361
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.587del (p.Ser196fs) rs745727504
NM_005327.7(HADH):c.614G>C (p.Gly205Ala) rs144699575
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)
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.