ClinVar Miner

List of variants studied for Mitochondrial trifunctional protein deficiency

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 540
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000183.3(HADHB):c.*136G>C rs1056471 0.88075
NM_000183.2(HADHB):c.-201G>A rs3806516 0.60985
NM_000183.2(HADHB):c.-214C>T rs72809668 0.17558
NM_000183.3(HADHB):c.825T>C (p.Val275=) rs1056389 0.17317
NM_000182.5(HADHA):c.*302G>A rs1049987 0.17222
NM_000183.3(HADHB):c.1014-14A>G rs17528590 0.17198
NM_000182.5(HADHA):c.474C>T (p.Tyr158=) rs11552518 0.16973
NM_000183.3(HADHB):c.1149+4A>T rs2303893 0.08727
NM_000183.3(HADHB):c.*486G>A rs7601689 0.04939
NM_000182.5(HADHA):c.*510A>T rs13432453 0.04522
NM_000183.3(HADHB):c.*196A>G rs7586822 0.03799
NM_000183.3(HADHB):c.*351C>G rs7575987 0.02538
NM_000182.5(HADHA):c.1392+10G>A rs60085478 0.02277
NM_000182.5(HADHA):c.1072C>A (p.Gln358Lys) rs2229420 0.02193
NM_000183.3(HADHB):c.966G>A (p.Ala322=) rs7572240 0.02064
NM_000182.5(HADHA):c.1620+11G>C rs112236946 0.01807
NM_000183.3(HADHB):c.830A>G (p.Lys277Arg) rs57969630 0.00662
NM_000183.3(HADHB):c.780C>T (p.Leu260=) rs7607527 0.00660
NM_000183.3(HADHB):c.891C>T (p.Ile297=) rs56902571 0.00660
NM_000182.5(HADHA):c.*561C>T rs115151034 0.00544
NM_000182.5(HADHA):c.*331T>C rs189483687 0.00500
NM_000182.5(HADHA):c.1981C>T (p.Leu661=) rs142348718 0.00450
NM_000182.5(HADHA):c.1690-6G>A rs111662358 0.00412
NM_000182.5(HADHA):c.68-10T>G rs144414842 0.00403
NM_000183.2(HADHB):c.-173T>C rs749979964 0.00249
NM_000182.5(HADHA):c.-1G>T rs72809666 0.00211
NM_000182.5(HADHA):c.1528G>C (p.Glu510Gln) rs137852769 0.00182
NM_000182.5(HADHA):c.2060T>C (p.Met687Thr) rs149632783 0.00173
NM_000183.3(HADHB):c.64+11T>C rs57709136 0.00141
NM_000183.2(HADHB):c.-185G>C rs367712851 0.00137
NM_000183.2(HADHB):c.-124C>G rs575302805 0.00095
NM_000183.3(HADHB):c.1206C>T (p.Tyr402=) rs146538551 0.00086
NM_000182.5(HADHA):c.*355C>T rs539549041 0.00071
NM_000183.3(HADHB):c.246A>G (p.Ala82=) rs151302743 0.00070
NM_000183.3(HADHB):c.900C>T (p.Tyr300=) rs144093705 0.00065
NM_000183.3(HADHB):c.1224+5G>A rs559277360 0.00059
NM_000182.5(HADHA):c.1212G>C (p.Val404=) rs116396996 0.00058
NM_000183.3(HADHB):c.*52A>G rs183649494 0.00056
NM_000183.3(HADHB):c.1119T>C (p.Ile373=) rs77943157 0.00052
NM_000182.5(HADHA):c.652G>C (p.Val218Leu) rs71441018 0.00050
NM_000183.3(HADHB):c.254+8A>G rs370597816 0.00038
NM_000183.3(HADHB):c.560A>G (p.Asn187Ser) rs138696018 0.00036
NM_000182.5(HADHA):c.2113G>A (p.Val705Ile) rs146406360 0.00034
NM_000182.5(HADHA):c.1689+11C>T rs367640259 0.00031
NM_000182.5(HADHA):c.79C>T (p.Arg27Cys) rs143832445 0.00031
NM_000183.3(HADHB):c.1023G>T (p.Met341Ile) rs141484936 0.00031
NM_000183.3(HADHB):c.565G>A (p.Ala189Thr) rs143683481 0.00031
NM_000182.5(HADHA):c.1690-13G>A rs368557552 0.00028
NM_000183.3(HADHB):c.*43C>T rs192988436 0.00028
NM_000183.3(HADHB):c.640G>A (p.Val214Ile) rs149693931 0.00028
NM_000183.3(HADHB):c.171G>A (p.Val57=) rs201804764 0.00027
NM_000182.5(HADHA):c.*586G>A rs749568626 0.00021
NM_000182.5(HADHA):c.2175C>T (p.Gly725=) rs375399631 0.00021
NM_000183.3(HADHB):c.64+15del rs771594408 0.00021
NM_000182.5(HADHA):c.325G>A (p.Ala109Thr) rs368388214 0.00016
NM_000182.5(HADHA):c.1690-14C>T rs142401180 0.00013
NM_000182.5(HADHA):c.*239C>T rs1001518961 0.00010
NM_000183.3(HADHB):c.1A>G (p.Met1Val) rs763333945 0.00010
NM_000182.5(HADHA):c.1284C>T (p.Asn428=) rs199535840 0.00009
NM_000182.5(HADHA):c.1655C>T (p.Ala552Val) rs369588406 0.00009
NM_000182.5(HADHA):c.2147-8C>G rs368976628 0.00009
NM_000182.5(HADHA):c.*110G>A rs952439873 0.00008
NM_000183.3(HADHB):c.272C>T (p.Thr91Ile) rs145712438 0.00008
NM_000183.3(HADHB):c.514C>T (p.Pro172Ser) rs367891116 0.00008
NM_000183.3(HADHB):c.584G>A (p.Arg195Gln) rs764507324 0.00007
NM_000182.5(HADHA):c.*403C>T rs146210168 0.00006
NM_000183.2(HADHB):c.-176G>T rs574318006 0.00006
NM_000183.3(HADHB):c.397A>G (p.Thr133Ala) rs371159065 0.00006
NM_000183.3(HADHB):c.712C>T (p.Arg238Trp) rs764006338 0.00006
NM_000183.3(HADHB):c.845G>A (p.Arg282His) rs140355426 0.00006
NM_000182.5(HADHA):c.180+3A>G rs781222705 0.00005
NM_000182.5(HADHA):c.1947T>A (p.Asn649Lys) rs777153382 0.00005
NM_000183.3(HADHB):c.1000A>C (p.Lys334Gln) rs774054520 0.00005
NM_000183.3(HADHB):c.1389+4C>T rs192854755 0.00005
NM_000183.3(HADHB):c.1390-5T>C rs372429293 0.00005
NM_000183.3(HADHB):c.182G>A (p.Arg61His) rs121913132 0.00005
NM_000182.5(HADHA):c.1788G>A (p.Ala596=) rs190409957 0.00004
NM_000182.5(HADHA):c.585T>A (p.Pro195=) rs202034466 0.00004
NM_000182.5(HADHA):c.858G>A (p.Val286=) rs373864418 0.00004
NM_000183.3(HADHB):c.1115A>T (p.Asp372Val) rs374840025 0.00004
NM_000183.3(HADHB):c.1289T>C (p.Phe430Ser) rs375329638 0.00004
NM_000183.3(HADHB):c.266A>G (p.His89Arg) rs373356931 0.00004
NM_000183.3(HADHB):c.426C>T (p.Asn142=) rs777313153 0.00004
NM_000183.3(HADHB):c.510T>C (p.Asp170=) rs374852324 0.00004
NM_000183.3(HADHB):c.64+15A>T rs1018820638 0.00004
NM_000182.5(HADHA):c.*182C>T rs1013194171 0.00003
NM_000182.5(HADHA):c.1793_1794del (p.His598fs) rs769580842 0.00003
NM_000183.3(HADHB):c.135G>A (p.Thr45=) rs574464531 0.00003
NM_000183.3(HADHB):c.1417C>A (p.Pro473Thr) rs942477332 0.00003
NM_000183.3(HADHB):c.631-15T>C rs767590983 0.00003
NM_000182.5(HADHA):c.1418C>A (p.Ala473Asp) rs772166712 0.00002
NM_000182.5(HADHA):c.1678C>T (p.Arg560Ter) rs137852771 0.00002
NM_000182.5(HADHA):c.1794T>C (p.His598=) rs149021400 0.00002
NM_000182.5(HADHA):c.1912A>G (p.Ile638Val) rs545660610 0.00002
NM_000182.5(HADHA):c.560G>C (p.Arg187Thr) rs146667859 0.00002
NM_000182.5(HADHA):c.955G>A (p.Gly319Ser) rs752317877 0.00002
NM_000183.3(HADHB):c.1089A>G (p.Leu363=) rs140869593 0.00002
NM_000183.3(HADHB):c.126G>A (p.Thr42=) rs1475892789 0.00002
NM_000183.3(HADHB):c.134C>T (p.Thr45Met) rs754537494 0.00002
NM_000183.3(HADHB):c.1389+8dup rs1484394551 0.00002
NM_000183.3(HADHB):c.210-1G>T rs200777054 0.00002
NM_000183.3(HADHB):c.210-9G>A rs538575997 0.00002
NM_000183.3(HADHB):c.353A>T (p.Glu118Val) rs761005966 0.00002
NM_000183.3(HADHB):c.362T>C (p.Leu121Pro) rs773127211 0.00002
NM_000183.3(HADHB):c.574A>G (p.Met192Val) rs772405727 0.00002
NM_000183.3(HADHB):c.589T>C (p.Ser197Pro) rs142475516 0.00002
NM_000183.3(HADHB):c.713G>A (p.Arg238Gln) rs369313023 0.00002
NM_000183.3(HADHB):c.822A>G (p.Thr274=) rs760136055 0.00002
NM_000183.3(HADHB):c.844C>T (p.Arg282Cys) rs374979465 0.00002
NM_000183.3(HADHB):c.965C>T (p.Ala322Val) rs758786432 0.00002
NM_000183.3(HADHB):c.97C>T (p.Arg33Ter) rs752264795 0.00002
NM_000182.5(HADHA):c.*405C>T rs886055859 0.00001
NM_000182.5(HADHA):c.*437T>A rs779402635 0.00001
NM_000182.5(HADHA):c.1132C>T (p.Gln378Ter) rs137852770 0.00001
NM_000182.5(HADHA):c.1195C>T (p.Arg399Ter) rs1243779049 0.00001
NM_000182.5(HADHA):c.1829G>A (p.Arg610Gln) rs373966336 0.00001
NM_000182.5(HADHA):c.189A>G (p.Thr63=) rs748187062 0.00001
NM_000182.5(HADHA):c.2037A>G (p.Thr679=) rs1231960929 0.00001
NM_000182.5(HADHA):c.2107G>A (p.Gly703Arg) rs200438844 0.00001
NM_000182.5(HADHA):c.2192A>T (p.Asp731Val) rs775428463 0.00001
NM_000182.5(HADHA):c.27C>T (p.Ile9=) rs1453533016 0.00001
NM_000182.5(HADHA):c.869T>C (p.Val290Ala) rs759968341 0.00001
NM_000183.2(HADHB):c.-202G>A rs886055865 0.00001
NM_000183.2(HADHB):c.-235delT rs886055864 0.00001
NM_000183.3(HADHB):c.-53C>T rs1187378058 0.00001
NM_000183.3(HADHB):c.1050A>G (p.Gln350=) rs753777514 0.00001
NM_000183.3(HADHB):c.1098A>T (p.Ala366=) rs748353295 0.00001
NM_000183.3(HADHB):c.1148C>T (p.Ser383Leu) rs144711755 0.00001
NM_000183.3(HADHB):c.1149+15A>G rs1053513949 0.00001
NM_000183.3(HADHB):c.1165A>G (p.Asn389Asp) rs1023807527 0.00001
NM_000183.3(HADHB):c.1188T>C (p.Asp396=) rs541350589 0.00001
NM_000183.3(HADHB):c.1315A>G (p.Met439Val) rs1392529342 0.00001
NM_000183.3(HADHB):c.1336C>T (p.Arg446Trp) rs781574694 0.00001
NM_000183.3(HADHB):c.1343A>G (p.Glu448Gly) rs971767907 0.00001
NM_000183.3(HADHB):c.1390-2A>G rs1297095534 0.00001
NM_000183.3(HADHB):c.173A>G (p.Asp58Gly) rs746076418 0.00001
NM_000183.3(HADHB):c.181C>T (p.Arg61Cys) rs780351691 0.00001
NM_000183.3(HADHB):c.209+1G>A rs113112630 0.00001
NM_000183.3(HADHB):c.213T>C (p.Tyr71=) rs1255649817 0.00001
NM_000183.3(HADHB):c.230A>G (p.His77Arg) rs760290863 0.00001
NM_000183.3(HADHB):c.254+1G>A rs776172237 0.00001
NM_000183.3(HADHB):c.255-1G>A rs112842641 0.00001
NM_000183.3(HADHB):c.255-2A>G rs1220650950 0.00001
NM_000183.3(HADHB):c.423C>T (p.Ala141=) rs374569092 0.00001
NM_000183.3(HADHB):c.443-10T>C rs371257973 0.00001
NM_000183.3(HADHB):c.443-11G>A rs777434443 0.00001
NM_000183.3(HADHB):c.493G>A (p.Val165Ile) rs766573917 0.00001
NM_000183.3(HADHB):c.503T>A (p.Met168Lys) rs1672656422 0.00001
NM_000183.3(HADHB):c.583C>T (p.Arg195Ter) rs552292698 0.00001
NM_000183.3(HADHB):c.608G>A (p.Arg203Gln) rs749861331 0.00001
NM_000183.3(HADHB):c.618C>T (p.Phe206=) rs757949243 0.00001
NM_000183.3(HADHB):c.635C>T (p.Pro212Leu) rs758393205 0.00001
NM_000183.3(HADHB):c.693C>T (p.Ala231=) rs768034989 0.00001
NM_000183.3(HADHB):c.693_696dup (p.Ala233fs) rs745646607 0.00001
NM_000183.3(HADHB):c.735A>G (p.Ala245=) rs1378842987 0.00001
NM_000183.3(HADHB):c.740G>A (p.Arg247His) rs121913133 0.00001
NM_000183.3(HADHB):c.74C>T (p.Pro25Leu) rs1434038212 0.00001
NM_000183.3(HADHB):c.809C>T (p.Pro270Leu) rs767202789 0.00001
NM_000183.3(HADHB):c.811+11A>G rs763763725 0.00001
NM_000183.3(HADHB):c.872A>G (p.Lys291Arg) rs573709691 0.00001
NM_000183.3(HADHB):c.901G>A (p.Gly301Ser) rs891954464 0.00001
NM_000183.3(HADHB):c.90C>G (p.Ser30=) rs757653389 0.00001
NM_000183.3(HADHB):c.919A>G (p.Asn307Asp) rs769558977 0.00001
NM_000183.3(HADHB):c.98G>A (p.Arg33Gln) rs372980146 0.00001
NM_000183.3(HADHB):c.998C>T (p.Pro333Leu) rs770736746 0.00001
NC_000002.11:g.(26467859_26477114)_(26477343_26486247)del
NC_000002.11:g.(?_26492801)_(26496638_?)del
NC_000002.11:g.(?_26507731)_(26508459_?)del
NC_000002.11:g.(?_26512766)_(26512821_?)del
NM_000182.4(HADHA):c.-37T>C rs528818728
NM_000182.5(HADHA):c.*103A>T rs1360388686
NM_000182.5(HADHA):c.*202G>A rs7260
NM_000182.5(HADHA):c.*373GT[1] rs886055861
NM_000182.5(HADHA):c.*389C>G rs886055860
NM_000182.5(HADHA):c.*458TG[3] rs146500488
NM_000182.5(HADHA):c.*46G>A rs367911534
NM_000182.5(HADHA):c.*489G>A rs886055857
NM_000182.5(HADHA):c.*494G>T rs886055856
NM_000182.5(HADHA):c.*59C>T rs1669485295
NM_000182.5(HADHA):c.1025T>C (p.Leu342Pro) rs137852772
NM_000182.5(HADHA):c.157C>T (p.Arg53Ter) rs147103714
NM_000182.5(HADHA):c.1689+2T>G rs1574602991
NM_000182.5(HADHA):c.16G>C (p.Ala6Pro) rs150565988
NM_000182.5(HADHA):c.180+1G>A rs786205088
NM_000182.5(HADHA):c.1811del (p.Gly604fs) rs747985669
NM_000182.5(HADHA):c.1981_1999del (p.Leu661fs) rs749848370
NM_000182.5(HADHA):c.2131C>T (p.Pro711Ser) rs138966725
NM_000182.5(HADHA):c.2132dup (p.Pro712fs) rs1574600309
NM_000182.5(HADHA):c.2134_2138dup (p.Gly715fs) rs1669501514
NM_000182.5(HADHA):c.2225_2228dup (p.Phe744fs) rs868816467
NM_000182.5(HADHA):c.252A>C (p.Gln84His) rs2147784410
NM_000182.5(HADHA):c.454-13C>T rs367636661
NM_000182.5(HADHA):c.539C>T (p.Pro180Leu) rs1574624062
NM_000182.5(HADHA):c.676+6T>C rs886055863
NM_000182.5(HADHA):c.703C>T (p.Arg235Trp) rs786204607
NM_000182.5(HADHA):c.845T>A (p.Val282Asp) rs137852773
NM_000182.5(HADHA):c.871C>T (p.Arg291Ter) rs137852775
NM_000182.5(HADHA):c.914T>A (p.Ile305Asn) rs137852774
NM_000182.5(HADHA):c.932G>C (p.Gly311Ala) rs886055862
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.*380A>G rs886055870
NM_000183.3(HADHB):c.*500G>A rs538337605
NM_000183.3(HADHB):c.-9+11G>C rs886055866
NM_000183.3(HADHB):c.1009T>C (p.Leu337=)
NM_000183.3(HADHB):c.1013+18A>G
NM_000183.3(HADHB):c.1013+19C>G
NM_000183.3(HADHB):c.1013+19C>T
NM_000183.3(HADHB):c.1013+21_1013+25dup
NM_000183.3(HADHB):c.1013+2T>G
NM_000183.3(HADHB):c.1014-15dup
NM_000183.3(HADHB):c.1014-18C>G
NM_000183.3(HADHB):c.1014-2A>T
NM_000183.3(HADHB):c.1014-4C>G
NM_000183.3(HADHB):c.1014-4C>T
NM_000183.3(HADHB):c.1014-7T>C rs2147830061
NM_000183.3(HADHB):c.1026T>C (p.Tyr342=)
NM_000183.3(HADHB):c.1044A>C (p.Lys348Asn) rs1038882025
NM_000183.3(HADHB):c.1048C>A (p.Gln350Lys)
NM_000183.3(HADHB):c.1053A>G (p.Leu351=)
NM_000183.3(HADHB):c.1061+17A>G
NM_000183.3(HADHB):c.1061+3A>G
NM_000183.3(HADHB):c.1062-14T>C
NM_000183.3(HADHB):c.1062-16T>C
NM_000183.3(HADHB):c.1062-18_1062-15del
NM_000183.3(HADHB):c.1062-1G>T
NM_000183.3(HADHB):c.1062-9dup
NM_000183.3(HADHB):c.1063C>A (p.Pro355Thr) rs1370999216
NM_000183.3(HADHB):c.106C>T (p.Pro36Ser)
NM_000183.3(HADHB):c.1071T>C (p.Tyr357=)
NM_000183.3(HADHB):c.109+4C>T rs769724590
NM_000183.3(HADHB):c.109+5A>G
NM_000183.3(HADHB):c.1098A>G (p.Ala366=)
NM_000183.3(HADHB):c.109G>C (p.Ala37Pro)
NM_000183.3(HADHB):c.110-1G>A
NM_000183.3(HADHB):c.110-2A>T
NM_000183.3(HADHB):c.1100del (p.Gly367fs)
NM_000183.3(HADHB):c.1110G>C (p.Met370Ile)
NM_000183.3(HADHB):c.1112del (p.Asn371fs)
NM_000183.3(HADHB):c.1123G>A (p.Ala375Thr) rs1558360702
NM_000183.3(HADHB):c.1128T>G (p.Phe376Leu) rs2147831395
NM_000183.3(HADHB):c.112G>T (p.Val38Phe)
NM_000183.3(HADHB):c.1137T>C (p.His379=)
NM_000183.3(HADHB):c.1137del (p.His379fs)
NM_000183.3(HADHB):c.1142C>T (p.Ala381Val) rs774703599
NM_000183.3(HADHB):c.1149+17A>T
NM_000183.3(HADHB):c.1149+19A>T
NM_000183.3(HADHB):c.1149+1G>T
NM_000183.3(HADHB):c.1149+2T>C
NM_000183.3(HADHB):c.1149+4A>G rs2303893
NM_000183.3(HADHB):c.1150-13T>C
NM_000183.3(HADHB):c.1150-18G>A
NM_000183.3(HADHB):c.1150-18G>T
NM_000183.3(HADHB):c.1150-19C>T
NM_000183.3(HADHB):c.1150-1G>C
NM_000183.3(HADHB):c.1150-1G>T
NM_000183.3(HADHB):c.1150-20T>G
NM_000183.3(HADHB):c.1150-2A>G rs2147832276
NM_000183.3(HADHB):c.1173A>G (p.Lys391=)
NM_000183.3(HADHB):c.1175C>T (p.Ala392Val) rs764623179
NM_000183.3(HADHB):c.1176C>A (p.Ala392=)
NM_000183.3(HADHB):c.1180G>T (p.Asp394Tyr)
NM_000183.3(HADHB):c.1186G>T (p.Asp396Tyr) rs2147832336
NM_000183.3(HADHB):c.1203C>A (p.Asn401Lys)
NM_000183.3(HADHB):c.1206C>G (p.Tyr402Ter) rs146538551
NM_000183.3(HADHB):c.1211dup (p.Gly404_Arg405insTer) rs1553323072
NM_000183.3(HADHB):c.1212T>C (p.Gly404=)
NM_000183.3(HADHB):c.1221C>G (p.Thr407=)
NM_000183.3(HADHB):c.1224+10T>C
NM_000183.3(HADHB):c.1224+11A>G
NM_000183.3(HADHB):c.1224+16T>A
NM_000183.3(HADHB):c.1224+1G>A
NM_000183.3(HADHB):c.1224+9C>A
NM_000183.3(HADHB):c.1225-11G>T
NM_000183.3(HADHB):c.1225-15C>G
NM_000183.3(HADHB):c.1225-1G>A
NM_000183.3(HADHB):c.1225-6A>T
NM_000183.3(HADHB):c.1254T>C (p.Asn418=)
NM_000183.3(HADHB):c.1269T>C (p.Ser423=)
NM_000183.3(HADHB):c.1279G>A (p.Gly427Arg)
NM_000183.3(HADHB):c.1279G>T (p.Gly427Ter)
NM_000183.3(HADHB):c.1284C>T (p.His428=)
NM_000183.3(HADHB):c.1287A>G (p.Pro429=)
NM_000183.3(HADHB):c.1296C>T (p.Ala432=)
NM_000183.3(HADHB):c.1309T>C (p.Leu437=)
NM_000183.3(HADHB):c.1319C>G (p.Ala440Gly)
NM_000183.3(HADHB):c.1321G>A (p.Ala441Thr)
NM_000183.3(HADHB):c.1334T>G (p.Leu445Ter)
NM_000183.3(HADHB):c.1341A>G (p.Lys447=)
NM_000183.3(HADHB):c.1350C>A (p.Gly450=)
NM_000183.3(HADHB):c.1353G>A (p.Gln451=)
NM_000183.3(HADHB):c.1357G>A (p.Gly453Ser)
NM_000183.3(HADHB):c.1359C>T (p.Gly453=)
NM_000183.3(HADHB):c.135G>T (p.Thr45=)
NM_000183.3(HADHB):c.1364T>G (p.Val455Gly) rs267606859
NM_000183.3(HADHB):c.1368T>C (p.Ala456=)
NM_000183.3(HADHB):c.1371G>A (p.Ala457=) rs72851542
NM_000183.3(HADHB):c.1371G>T (p.Ala457=)
NM_000183.3(HADHB):c.1375G>A (p.Ala459Thr) rs1376342675
NM_000183.3(HADHB):c.1377A>C (p.Ala459=)
NM_000183.3(HADHB):c.1386G>A (p.Gly462=)
NM_000183.3(HADHB):c.1387C>G (p.Gln463Glu)
NM_000183.3(HADHB):c.1389+10A>C
NM_000183.3(HADHB):c.1389+10A>G
NM_000183.3(HADHB):c.1389+11G>A
NM_000183.3(HADHB):c.1389+1G>A
NM_000183.3(HADHB):c.1389+5G>A
NM_000183.3(HADHB):c.138A>G (p.Leu46=)
NM_000183.3(HADHB):c.1390-4A>G
NM_000183.3(HADHB):c.1399A>G (p.Met467Val)
NM_000183.3(HADHB):c.1405G>A (p.Val469Met) rs1673196031
NM_000183.3(HADHB):c.1409A>C (p.Glu470Ala) rs2147837732
NM_000183.3(HADHB):c.1416T>C (p.Tyr472=)
NM_000183.3(HADHB):c.1422A>G (p.Lys474=)
NM_000183.3(HADHB):c.150T>A (p.Asn50Lys)
NM_000183.3(HADHB):c.162T>A (p.Val54=)
NM_000183.3(HADHB):c.162T>C (p.Val54=)
NM_000183.3(HADHB):c.166G>T (p.Val56Leu)
NM_000183.3(HADHB):c.168G>T (p.Val56=)
NM_000183.3(HADHB):c.183C>T (p.Arg61=)
NM_000183.3(HADHB):c.189A>T (p.Pro63=)
NM_000183.3(HADHB):c.198_205dup (p.Thr69fs)
NM_000183.3(HADHB):c.204C>T (p.Gly68=)
NM_000183.3(HADHB):c.206C>G (p.Thr69Ser)
NM_000183.3(HADHB):c.209+10A>G
NM_000183.3(HADHB):c.209+10A>T
NM_000183.3(HADHB):c.209+12A>G
NM_000183.3(HADHB):c.209+13T>C
NM_000183.3(HADHB):c.209+14G>C
NM_000183.3(HADHB):c.209+14_209+15del
NM_000183.3(HADHB):c.209+16T>C
NM_000183.3(HADHB):c.209+18A>G
NM_000183.3(HADHB):c.209+1G>C
NM_000183.3(HADHB):c.209+20A>G
NM_000183.3(HADHB):c.209+7A>G rs773618132
NM_000183.3(HADHB):c.209C>G (p.Ser70Ter)
NM_000183.3(HADHB):c.210-10C>T
NM_000183.3(HADHB):c.210-17T>A
NM_000183.3(HADHB):c.210-18C>G
NM_000183.3(HADHB):c.210-18C>T
NM_000183.3(HADHB):c.210-4C>G
NM_000183.3(HADHB):c.210-5C>A rs763169112
NM_000183.3(HADHB):c.214A>G (p.Lys72Glu)
NM_000183.3(HADHB):c.219C>T (p.Asp73=)
NM_000183.3(HADHB):c.21C>G (p.Pro7=)
NM_000183.3(HADHB):c.21C>T (p.Pro7=)
NM_000183.3(HADHB):c.221T>G (p.Leu74Arg)
NM_000183.3(HADHB):c.223A>T (p.Met75Leu)
NM_000183.3(HADHB):c.254+15T>C
NM_000183.3(HADHB):c.254+17T>G
NM_000183.3(HADHB):c.254C>T (p.Thr85Met)
NM_000183.3(HADHB):c.255-13T>C
NM_000183.3(HADHB):c.255-14A>G
NM_000183.3(HADHB):c.255-20C>T
NM_000183.3(HADHB):c.255-2del
NM_000183.3(HADHB):c.255-7C>T
NM_000183.3(HADHB):c.260T>C (p.Leu87Ser) rs1171889657
NM_000183.3(HADHB):c.279C>T (p.Val93=)
NM_000183.3(HADHB):c.288A>G (p.Glu96=)
NM_000183.3(HADHB):c.299A>G (p.Tyr100Cys)
NM_000183.3(HADHB):c.303C>A (p.Ile101=)
NM_000183.3(HADHB):c.306C>A (p.Ile102=)
NM_000183.3(HADHB):c.315A>G (p.Thr105=)
NM_000183.3(HADHB):c.32T>C (p.Leu11Pro)
NM_000183.3(HADHB):c.330G>A (p.Val110=)
NM_000183.3(HADHB):c.340A>G (p.Asn114Asp)
NM_000183.3(HADHB):c.341A>G (p.Asn114Ser)
NM_000183.3(HADHB):c.343dup (p.Val115fs)
NM_000183.3(HADHB):c.346G>T (p.Ala116Ser) rs766228457
NM_000183.3(HADHB):c.354+17T>G
NM_000183.3(HADHB):c.354+1G>T
NM_000183.3(HADHB):c.354+20T>A
NM_000183.3(HADHB):c.354+2T>C
NM_000183.3(HADHB):c.355-11A>G
NM_000183.3(HADHB):c.355-12T>C
NM_000183.3(HADHB):c.355-13_355-12del
NM_000183.3(HADHB):c.355-15C>T
NM_000183.3(HADHB):c.355-17C>G
NM_000183.3(HADHB):c.355-20A>C
NM_000183.3(HADHB):c.360C>T (p.Ala120=) rs2147823124
NM_000183.3(HADHB):c.388C>T (p.Pro130Ser)
NM_000183.3(HADHB):c.389C>T (p.Pro130Leu)
NM_000183.3(HADHB):c.392C>T (p.Ala131Val) rs1672558537
NM_000183.3(HADHB):c.399T>C (p.Thr133=)
NM_000183.3(HADHB):c.405C>T (p.Thr135=)
NM_000183.3(HADHB):c.407T>C (p.Met136Thr) rs750956714
NM_000183.3(HADHB):c.410dup (p.Cys138fs)
NM_000183.3(HADHB):c.417C>T (p.Ile139=)
NM_000183.3(HADHB):c.417del (p.Ser140fs)
NM_000183.3(HADHB):c.427C>G (p.Gln143Glu) rs200718690
NM_000183.3(HADHB):c.431C>T (p.Ala144Val) rs1672561193
NM_000183.3(HADHB):c.432C>G (p.Ala144=)
NM_000183.3(HADHB):c.442+12T>C
NM_000183.3(HADHB):c.442+15A>G
NM_000183.3(HADHB):c.442+15A>T
NM_000183.3(HADHB):c.442+18C>T
NM_000183.3(HADHB):c.442+663A>G
NM_000183.3(HADHB):c.443-10T>A
NM_000183.3(HADHB):c.443-13del
NM_000183.3(HADHB):c.443-20G>A
NM_000183.3(HADHB):c.443-4G>A
NM_000183.3(HADHB):c.443-4G>C
NM_000183.3(HADHB):c.451T>C (p.Leu151=)
NM_000183.3(HADHB):c.466C>T (p.Gln156Ter)
NM_000183.3(HADHB):c.474T>C (p.Asp158=)
NM_000183.3(HADHB):c.480C>T (p.Ile160=)
NM_000183.3(HADHB):c.481G>A (p.Val161Met)
NM_000183.3(HADHB):c.486A>C (p.Ala162=)
NM_000183.3(HADHB):c.489T>C (p.Gly163=)
NM_000183.3(HADHB):c.490G>A (p.Gly164Ser)
NM_000183.3(HADHB):c.491G>A (p.Gly164Asp) rs1558356679
NM_000183.3(HADHB):c.496G>A (p.Glu166Lys)
NM_000183.3(HADHB):c.507C>G (p.Ser169=)
NM_000183.3(HADHB):c.507C>T (p.Ser169=)
NM_000183.3(HADHB):c.508G>A (p.Asp170Asn)
NM_000183.3(HADHB):c.50G>A (p.Trp17Ter)
NM_000183.3(HADHB):c.520C>T (p.Arg174Cys)
NM_000183.3(HADHB):c.544C>T (p.Leu182=)
NM_000183.3(HADHB):c.54C>T (p.Ala18=)
NM_000183.3(HADHB):c.556C>G (p.Leu186Val)
NM_000183.3(HADHB):c.564G>A (p.Lys188=)
NM_000183.3(HADHB):c.568A>T (p.Lys190Ter)
NM_000183.3(HADHB):c.57C>T (p.Leu19=)
NM_000183.3(HADHB):c.588G>A (p.Leu196=)
NM_000183.3(HADHB):c.590_591delinsAA (p.Ser197Ter)
NM_000183.3(HADHB):c.597C>T (p.Ile199=)
NM_000183.3(HADHB):c.5_7dup (p.Thr2dup) rs3839049
NM_000183.3(HADHB):c.607C>T (p.Arg203Ter)
NM_000183.3(HADHB):c.609A>C (p.Arg203=)
NM_000183.3(HADHB):c.615_616insCTCTAAT (p.Phe206delinsLeuTer)
NM_000183.3(HADHB):c.630+10G>A
NM_000183.3(HADHB):c.630+16G>A
NM_000183.3(HADHB):c.630+19G>A
NM_000183.3(HADHB):c.630+2_630+6del
NM_000183.3(HADHB):c.631-11T>C
NM_000183.3(HADHB):c.631-16A>C
NM_000183.3(HADHB):c.631-16A>G
NM_000183.3(HADHB):c.631-16A>T
NM_000183.3(HADHB):c.631-17G>A
NM_000183.3(HADHB):c.631-17G>T
NM_000183.3(HADHB):c.631-1G>A rs1553322031
NM_000183.3(HADHB):c.631-2A>C rs1574663316
NM_000183.3(HADHB):c.631-6T>C
NM_000183.3(HADHB):c.631-9C>T
NM_000183.3(HADHB):c.632T>A (p.Leu211His) rs1446857112
NM_000183.3(HADHB):c.637_638delinsTA (p.Ala213Ter)
NM_000183.3(HADHB):c.639G>A (p.Ala213=)
NM_000183.3(HADHB):c.64+10T>C
NM_000183.3(HADHB):c.64+13T>C
NM_000183.3(HADHB):c.64+22dup
NM_000183.3(HADHB):c.64+7TTA[2]
NM_000183.3(HADHB):c.646G>T (p.Glu216Ter) rs2147825407
NM_000183.3(HADHB):c.648G>A (p.Glu216=)
NM_000183.3(HADHB):c.65-15T>A
NM_000183.3(HADHB):c.65-19A>G
NM_000183.3(HADHB):c.65-8T>C
NM_000183.3(HADHB):c.65-9G>A
NM_000183.3(HADHB):c.651C>T (p.Phe217=)
NM_000183.3(HADHB):c.652T>C (p.Ser218Pro)
NM_000183.3(HADHB):c.657C>T (p.Thr219=)
NM_000183.3(HADHB):c.658A>G (p.Ser220Gly)
NM_000183.3(HADHB):c.65C>G (p.Ser22Cys) rs1671530038
NM_000183.3(HADHB):c.666C>T (p.Thr222=)
NM_000183.3(HADHB):c.672C>G (p.Gly224=)
NM_000183.3(HADHB):c.672C>T (p.Gly224=)
NM_000183.3(HADHB):c.678T>A (p.Ser226=)
NM_000183.3(HADHB):c.679G>A (p.Ala227Thr)
NM_000183.3(HADHB):c.685C>T (p.Arg229Ter) rs759136382
NM_000183.3(HADHB):c.686G>A (p.Arg229Gln) rs375654005
NM_000183.3(HADHB):c.693del (p.Ala232fs) rs2147825515
NM_000183.3(HADHB):c.694G>A (p.Ala232Thr) rs987203346
NM_000183.3(HADHB):c.694G>T (p.Ala232Ser) rs987203346
NM_000183.3(HADHB):c.696T>C (p.Ala232=)
NM_000183.3(HADHB):c.699C>T (p.Ala233=)
NM_000183.3(HADHB):c.710C>G (p.Ser237Cys)
NM_000183.3(HADHB):c.714G>A (p.Arg238=)
NM_000183.3(HADHB):c.716T>C (p.Leu239Pro)
NM_000183.3(HADHB):c.736C>T (p.Leu246=)
NM_000183.3(HADHB):c.739C>T (p.Arg247Cys)
NM_000183.3(HADHB):c.741C>T (p.Arg247=)
NM_000183.3(HADHB):c.747C>T (p.His249=)
NM_000183.3(HADHB):c.747_748del (p.His249fs)
NM_000183.3(HADHB):c.754G>A (p.Ala252Thr) rs770044899
NM_000183.3(HADHB):c.756C>T (p.Ala252=)
NM_000183.3(HADHB):c.762G>A (p.Lys254=)
NM_000183.3(HADHB):c.807A>C (p.Val269=)
NM_000183.3(HADHB):c.80G>C (p.Ser27Thr)
NM_000183.3(HADHB):c.811+15T>A
NM_000183.3(HADHB):c.811+1G>A
NM_000183.3(HADHB):c.811+2T>G
NM_000183.3(HADHB):c.811+82A>G
NM_000183.3(HADHB):c.812-11T>G
NM_000183.3(HADHB):c.812-14C>G
NM_000183.3(HADHB):c.812-14C>T
NM_000183.3(HADHB):c.812-16T>A
NM_000183.3(HADHB):c.812-2A>G
NM_000183.3(HADHB):c.812-5A>C rs72851534
NM_000183.3(HADHB):c.812-5A>T rs72851534
NM_000183.3(HADHB):c.812-6dup
NM_000183.3(HADHB):c.820dup (p.Thr274fs)
NM_000183.3(HADHB):c.828C>G (p.Thr276=)
NM_000183.3(HADHB):c.832G>C (p.Asp278His) rs982733832
NM_000183.3(HADHB):c.863A>G (p.Gln288Arg)
NM_000183.3(HADHB):c.87C>T (p.Ser29=)
NM_000183.3(HADHB):c.881C>G (p.Pro294Arg) rs1558357879
NM_000183.3(HADHB):c.882dup (p.Ala295fs)
NM_000183.3(HADHB):c.894G>A (p.Lys298=)
NM_000183.3(HADHB):c.897C>G (p.Pro299=)
NM_000183.3(HADHB):c.897C>T (p.Pro299=)
NM_000183.3(HADHB):c.901G>C (p.Gly301Arg) rs891954464
NM_000183.3(HADHB):c.90C>T (p.Ser30=)
NM_000183.3(HADHB):c.915T>G (p.Ala305=)
NM_000183.3(HADHB):c.91C>G (p.Gln31Glu)
NM_000183.3(HADHB):c.923C>A (p.Ser308Tyr)
NM_000183.3(HADHB):c.924T>G (p.Ser308=)
NM_000183.3(HADHB):c.930C>A (p.Phe310Leu)
NM_000183.3(HADHB):c.930C>T (p.Phe310=)
NM_000183.3(HADHB):c.933+16A>G
NM_000183.3(HADHB):c.933+20G>A
NM_000183.3(HADHB):c.933+6del
NM_000183.3(HADHB):c.933+8T>C
NM_000183.3(HADHB):c.934-10A>G
NM_000183.3(HADHB):c.934-13G>A
NM_000183.3(HADHB):c.934-13G>C
NM_000183.3(HADHB):c.934-16C>T
NM_000183.3(HADHB):c.936T>G (p.Thr312=)
NM_000183.3(HADHB):c.944C>T (p.Ala315Val)
NM_000183.3(HADHB):c.945A>G (p.Ala315=)
NM_000183.3(HADHB):c.948T>A (p.Ser316=)
NM_000183.3(HADHB):c.951A>G (p.Ala317=)
NM_000183.3(HADHB):c.953T>G (p.Met318Arg) rs2147829865
NM_000183.3(HADHB):c.962del (p.Met321fs)
NM_000183.3(HADHB):c.965C>A (p.Ala322Glu)
NM_000183.3(HADHB):c.979C>T (p.Leu327=)
NM_000183.3(HADHB):c.982G>A (p.Ala328Thr)
NM_000183.3(HADHB):c.989G>A (p.Gly330Asp) rs1349682003
NM_000183.3(HADHB):c.989del (p.Gly330fs) rs2147829909
NM_000183.3(HADHB):c.994A>G (p.Lys332Glu) rs777680722
NM_000183.3(HADHB):c.999G>A (p.Pro333=)

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.