ClinVar Miner

List of variants in gene HADHA studied for cardiovascular disorder

Included ClinVar conditions (1435):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 417
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000182.5(HADHA):c.573+32T>C rs7593175 0.61061
NM_000182.5(HADHA):c.573+26G>C rs35746418 0.17547
NM_000182.5(HADHA):c.67+51G>T rs62128457 0.17544
NM_000182.5(HADHA):c.180+69G>C rs2303892 0.17014
NM_000182.5(HADHA):c.474C>T (p.Tyr158=) rs11552518 0.16973
NM_000182.5(HADHA):c.68-82T>A rs12987980 0.16953
NM_000182.5(HADHA):c.315-44A>C rs3892649 0.16834
NM_000182.5(HADHA):c.1072C>A (p.Gln358Lys) rs2229420 0.02193
NM_000182.5(HADHA):c.109+20A>G rs7569108 0.01898
NM_000182.5(HADHA):c.573+8dup rs112196218 0.00584
NM_000182.5(HADHA):c.68-10T>G rs144414842 0.00403
NM_000182.5(HADHA):c.-25C>G rs184300489 0.00274
NM_000182.5(HADHA):c.-1G>T rs72809666 0.00211
NM_000182.5(HADHA):c.589G>T (p.Ala197Ser) rs116320983 0.00091
NM_000182.5(HADHA):c.809C>T (p.Ala270Val) rs141429393 0.00061
NM_000182.5(HADHA):c.652G>C (p.Val218Leu) rs71441018 0.00050
NM_000182.5(HADHA):c.567C>T (p.Pro189=) rs183297747 0.00047
NM_000182.5(HADHA):c.79C>T (p.Arg27Cys) rs143832445 0.00031
NM_000182.5(HADHA):c.315-12T>C rs531815564 0.00029
NM_000182.5(HADHA):c.864A>G (p.Glu288=) rs372425837 0.00020
NM_000182.5(HADHA):c.325G>A (p.Ala109Thr) rs368388214 0.00016
NM_000182.5(HADHA):c.68-13T>C rs182123964 0.00013
NM_000182.5(HADHA):c.1085+17G>A rs183045060 0.00012
NM_000182.5(HADHA):c.872G>A (p.Arg291Gln) rs143414408 0.00011
NM_000182.5(HADHA):c.810G>A (p.Ala270=) rs376632479 0.00010
NM_000182.5(HADHA):c.918+19T>C rs372010520 0.00009
NM_000182.5(HADHA):c.513C>A (p.Thr171=) rs139043179 0.00007
NM_000182.5(HADHA):c.816C>A (p.Ala272=) rs764851270 0.00006
NM_000182.5(HADHA):c.975+6C>T rs766717752 0.00006
NM_000182.5(HADHA):c.180+3A>G rs781222705 0.00005
NM_000182.5(HADHA):c.764A>G (p.Lys255Arg) rs754673524 0.00005
NM_000182.5(HADHA):c.1003G>A (p.Glu335Lys) rs769821069 0.00004
NM_000182.5(HADHA):c.316A>G (p.Met106Val) rs143122454 0.00004
NM_000182.5(HADHA):c.323C>A (p.Ala108Asp) rs762296285 0.00004
NM_000182.5(HADHA):c.504A>G (p.Val168=) rs1004279547 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_000182.5(HADHA):c.896C>A (p.Pro299His) rs905722226 0.00004
NM_000182.5(HADHA):c.919-2A>G rs200017313 0.00004
NM_000182.5(HADHA):c.1014C>T (p.Ala338=) rs748021991 0.00003
NM_000182.5(HADHA):c.12C>T (p.Cys4=) rs938902936 0.00003
NM_000182.5(HADHA):c.41C>T (p.Ser14Phe) rs765213828 0.00003
NM_000182.5(HADHA):c.777G>A (p.Lys259=) rs142071869 0.00003
NM_000182.5(HADHA):c.828A>G (p.Pro276=) rs765819381 0.00003
NM_000182.5(HADHA):c.954C>T (p.Ala318=) rs755595692 0.00003
NM_000182.5(HADHA):c.183A>G (p.Val61=) rs370149021 0.00002
NM_000182.5(HADHA):c.199G>C (p.Glu67Gln) rs781303622 0.00002
NM_000182.5(HADHA):c.386A>G (p.Lys129Arg) rs769625802 0.00002
NM_000182.5(HADHA):c.560G>C (p.Arg187Thr) rs146667859 0.00002
NM_000182.5(HADHA):c.676+2T>C rs772683361 0.00002
NM_000182.5(HADHA):c.677-3T>C rs376306806 0.00002
NM_000182.5(HADHA):c.677G>A (p.Gly226Glu) rs143919136 0.00002
NM_000182.5(HADHA):c.955G>A (p.Gly319Ser) rs752317877 0.00002
NM_000182.5(HADHA):c.9C>T (p.Ala3=) rs1323737552 0.00002
NM_000182.5(HADHA):c.110-7T>C rs551019555 0.00001
NM_000182.5(HADHA):c.180+19A>G rs367919663 0.00001
NM_000182.5(HADHA):c.189A>G (p.Thr63=) rs748187062 0.00001
NM_000182.5(HADHA):c.201G>A (p.Glu67=) rs1574626650 0.00001
NM_000182.5(HADHA):c.241G>A (p.Ala81Thr) rs1281408938 0.00001
NM_000182.5(HADHA):c.264C>T (p.Ala88=) rs755713464 0.00001
NM_000182.5(HADHA):c.27C>T (p.Ile9=) rs1453533016 0.00001
NM_000182.5(HADHA):c.285A>T (p.Pro95=) rs1483582925 0.00001
NM_000182.5(HADHA):c.315-1G>A rs1458898996 0.00001
NM_000182.5(HADHA):c.324C>T (p.Ala108=) rs559608103 0.00001
NM_000182.5(HADHA):c.341A>G (p.Gln114Arg) rs145798498 0.00001
NM_000182.5(HADHA):c.363A>G (p.Gln121=) rs199639645 0.00001
NM_000182.5(HADHA):c.425A>G (p.Asn142Ser) rs200549951 0.00001
NM_000182.5(HADHA):c.489A>T (p.Lys163Asn) rs1347586924 0.00001
NM_000182.5(HADHA):c.509G>A (p.Gly170Asp) rs746937892 0.00001
NM_000182.5(HADHA):c.552C>A (p.Gly184=) rs997810898 0.00001
NM_000182.5(HADHA):c.573+16C>T rs372317291 0.00001
NM_000182.5(HADHA):c.573+9A>G rs1419666935 0.00001
NM_000182.5(HADHA):c.646_657dup (p.Gly216_Asp219dup) rs1316714458 0.00001
NM_000182.5(HADHA):c.67+17G>C rs574255291 0.00001
NM_000182.5(HADHA):c.67+3G>A rs759265828 0.00001
NM_000182.5(HADHA):c.676+10A>G rs746940690 0.00001
NM_000182.5(HADHA):c.68-414A>G rs1045384430 0.00001
NM_000182.5(HADHA):c.708A>G (p.Thr236=) rs769619183 0.00001
NM_000182.5(HADHA):c.720A>C (p.Leu240=) rs147042247 0.00001
NM_000182.5(HADHA):c.751C>T (p.Leu251=) rs778945181 0.00001
NM_000182.5(HADHA):c.768C>T (p.Ile256=) rs1245138981 0.00001
NM_000182.5(HADHA):c.800-15C>T rs1057523518 0.00001
NM_000182.5(HADHA):c.869T>C (p.Val290Ala) rs759968341 0.00001
NM_000182.5(HADHA):c.911T>C (p.Ile304Thr) rs369774960 0.00001
NM_000182.5(HADHA):c.914T>C (p.Ile305Thr) rs137852774 0.00001
NM_000182.5(HADHA):c.924A>G (p.Val308=) rs556893283 0.00001
NM_000182.5(HADHA):c.976-7T>G rs1670058905 0.00001
NM_000182.5(HADHA):c.981T>C (p.Phe327=) rs775800474 0.00001
NM_000182.5(HADHA):c.982G>A (p.Gly328Arg) rs796051970 0.00001
NC_000002.11:g.(?_26414109)_(26415303_?)del
NC_000002.11:g.(?_26414109)_(26462021_?)del
NC_000002.11:g.(?_26414119)_(26418121_?)dup
NC_000002.11:g.(?_26414119)_(26462031_?)del
NC_000002.11:g.(?_26416426)_(26418121_?)del
NC_000002.11:g.(?_26416436)_(26418111_?)del
NC_000002.11:g.(?_26455008)_(26457243_?)dup
NC_000002.11:g.(?_26467378)_(26467464_?)del
NC_000002.12:g.(?_26236845)_(26239153_?)del
NM_000182.4(HADHA):c.-37T>C rs528818728
NM_000182.5(HADHA):c.1002del (p.Glu335fs)
NM_000182.5(HADHA):c.1011G>A (p.Lys337=)
NM_000182.5(HADHA):c.1014C>G (p.Ala338=)
NM_000182.5(HADHA):c.1015T>C (p.Leu339=) rs2147766676
NM_000182.5(HADHA):c.1023A>G (p.Gly341=)
NM_000182.5(HADHA):c.1029C>A (p.Tyr343Ter)
NM_000182.5(HADHA):c.1032T>C (p.His344=)
NM_000182.5(HADHA):c.1039G>A (p.Val347Ile)
NM_000182.5(HADHA):c.1041C>A (p.Val347=)
NM_000182.5(HADHA):c.1042C>T (p.Leu348=)
NM_000182.5(HADHA):c.1044G>A (p.Leu348=) rs1574612640
NM_000182.5(HADHA):c.1049A>G (p.Lys350Arg) rs757845324
NM_000182.5(HADHA):c.1050G>A (p.Lys350=) rs2147766641
NM_000182.5(HADHA):c.1052del (p.Lys351fs) rs1057516556
NM_000182.5(HADHA):c.1053G>A (p.Lys351=)
NM_000182.5(HADHA):c.1059del (p.Lys353fs) rs1227493628
NM_000182.5(HADHA):c.105G>A (p.Leu35=) rs772322566
NM_000182.5(HADHA):c.1065A>C (p.Gly355=) rs1574612617
NM_000182.5(HADHA):c.1070del (p.Pro357fs) rs1670051013
NM_000182.5(HADHA):c.1077G>A (p.Lys359=) rs2147766596
NM_000182.5(HADHA):c.1080T>G (p.Asp360Glu)
NM_000182.5(HADHA):c.1085+10del
NM_000182.5(HADHA):c.1085+12T>G
NM_000182.5(HADHA):c.1085+15A>G
NM_000182.5(HADHA):c.1085+16C>T
NM_000182.5(HADHA):c.1085+19A>G
NM_000182.5(HADHA):c.110-10T>C rs372046774
NM_000182.5(HADHA):c.110-11T>C
NM_000182.5(HADHA):c.110-12T>A
NM_000182.5(HADHA):c.110-12T>C
NM_000182.5(HADHA):c.110-13C>A rs1314506688
NM_000182.5(HADHA):c.110-13_110-10del
NM_000182.5(HADHA):c.110-14T>A
NM_000182.5(HADHA):c.110-14T>C
NM_000182.5(HADHA):c.110-15T>G
NM_000182.5(HADHA):c.110-17C>T
NM_000182.5(HADHA):c.129T>C (p.Tyr43=) rs2147785511
NM_000182.5(HADHA):c.129dup (p.Gly44fs) rs1298883200
NM_000182.5(HADHA):c.130G>A (p.Gly44Arg)
NM_000182.5(HADHA):c.134T>G (p.Val45Gly)
NM_000182.5(HADHA):c.13C>T (p.Arg5Trp)
NM_000182.5(HADHA):c.141G>A (p.Gly47=) rs1670826504
NM_000182.5(HADHA):c.147G>A (p.Val49=) rs2147785494
NM_000182.5(HADHA):c.156_157del (p.Arg53fs)
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.160del (p.Ile54fs)
NM_000182.5(HADHA):c.161T>G (p.Ile54Ser) rs2147785483
NM_000182.5(HADHA):c.162T>C (p.Ile54=) rs1558331903
NM_000182.5(HADHA):c.165C>T (p.Asn55=)
NM_000182.5(HADHA):c.16G>A (p.Ala6Thr)
NM_000182.5(HADHA):c.16G>C (p.Ala6Pro) rs150565988
NM_000182.5(HADHA):c.173A>G (p.Asn58Ser)
NM_000182.5(HADHA):c.177A>C (p.Ser59=) rs1574627624
NM_000182.5(HADHA):c.17C>T (p.Ala6Val)
NM_000182.5(HADHA):c.180+14T>A
NM_000182.5(HADHA):c.180+1G>A rs786205088
NM_000182.5(HADHA):c.180+20G>A
NM_000182.5(HADHA):c.180+7C>G
NM_000182.5(HADHA):c.180_180+5delinsAT rs1553316142
NM_000182.5(HADHA):c.181-15A>G
NM_000182.5(HADHA):c.181-17A>G
NM_000182.5(HADHA):c.181-1G>A
NM_000182.5(HADHA):c.181-8T>A rs1670779458
NM_000182.5(HADHA):c.189A>C (p.Thr63=) rs748187062
NM_000182.5(HADHA):c.189A>T (p.Thr63=) rs748187062
NM_000182.5(HADHA):c.192G>A (p.Leu64=) rs2147784458
NM_000182.5(HADHA):c.1A>G (p.Met1Val) rs1057517430
NM_000182.5(HADHA):c.202C>T (p.Leu68=)
NM_000182.5(HADHA):c.204A>G (p.Leu68=)
NM_000182.5(HADHA):c.213G>A (p.Glu71=) rs532314552
NM_000182.5(HADHA):c.216C>T (p.Phe72=) rs1670777856
NM_000182.5(HADHA):c.217T>C (p.Ser73Pro)
NM_000182.5(HADHA):c.230A>G (p.Asn77Ser)
NM_000182.5(HADHA):c.238del (p.Trp80fs)
NM_000182.5(HADHA):c.240G>A (p.Trp80Ter) rs1057516326
NM_000182.5(HADHA):c.243T>C (p.Ala81=)
NM_000182.5(HADHA):c.24C>A (p.Gly8=) rs942208244
NM_000182.5(HADHA):c.252A>C (p.Gln84His) rs2147784410
NM_000182.5(HADHA):c.258A>G (p.Arg86=)
NM_000182.5(HADHA):c.264C>G (p.Ala88=)
NM_000182.5(HADHA):c.265G>A (p.Val89Ile)
NM_000182.5(HADHA):c.269T>G (p.Leu90Arg) rs2147784395
NM_000182.5(HADHA):c.274_278del (p.Ser92fs) rs781205883
NM_000182.5(HADHA):c.276A>G (p.Ser92=)
NM_000182.5(HADHA):c.279A>G (p.Ser93=)
NM_000182.5(HADHA):c.282G>C (p.Lys94Asn)
NM_000182.5(HADHA):c.284_288del (p.Pro95fs)
NM_000182.5(HADHA):c.291C>T (p.Cys97=)
NM_000182.5(HADHA):c.294del (p.Phe98fs) rs2147784383
NM_000182.5(HADHA):c.297T>C (p.Ile99=)
NM_000182.5(HADHA):c.2TGG[1] (p.Val2del) rs1553316724
NM_000182.5(HADHA):c.300A>G (p.Ala100=) rs1335136331
NM_000182.5(HADHA):c.303T>G (p.Gly101=) rs1670773890
NM_000182.5(HADHA):c.306T>C (p.Ala102=)
NM_000182.5(HADHA):c.30C>A (p.Leu10=)
NM_000182.5(HADHA):c.30C>G (p.Leu10=) rs1221423725
NM_000182.5(HADHA):c.310dup (p.Ile104fs) rs1670773680
NM_000182.5(HADHA):c.314+11G>A
NM_000182.5(HADHA):c.314+12G>T
NM_000182.5(HADHA):c.314+14A>C
NM_000182.5(HADHA):c.314+15A>G
NM_000182.5(HADHA):c.314+17T>C
NM_000182.5(HADHA):c.314+18dup rs2147784338
NM_000182.5(HADHA):c.314+19G>A
NM_000182.5(HADHA):c.314+1G>C
NM_000182.5(HADHA):c.314+2T>G
NM_000182.5(HADHA):c.314+8T>A
NM_000182.5(HADHA):c.315-16T>A
NM_000182.5(HADHA):c.315-2A>T
NM_000182.5(HADHA):c.327T>C (p.Ala109=)
NM_000182.5(HADHA):c.336C>A (p.Thr112=)
NM_000182.5(HADHA):c.33C>T (p.Ser11=) rs1574631841
NM_000182.5(HADHA):c.340C>T (p.Gln114Ter) rs1670695733
NM_000182.5(HADHA):c.345A>G (p.Glu115=)
NM_000182.5(HADHA):c.348A>G (p.Val116=) rs2147782544
NM_000182.5(HADHA):c.352_353del (p.Gln118fs) rs1670695370
NM_000182.5(HADHA):c.359C>A (p.Ser120Ter) rs1670695099
NM_000182.5(HADHA):c.362A>G (p.Gln121Arg)
NM_000182.5(HADHA):c.36C>A (p.Arg12=) rs2147789735
NM_000182.5(HADHA):c.384G>A (p.Glu128=)
NM_000182.5(HADHA):c.387_388del (p.Lys129fs) rs780350631
NM_000182.5(HADHA):c.3G>A (p.Met1Ile) rs1237270916
NM_000182.5(HADHA):c.402A>G (p.Thr134=)
NM_000182.5(HADHA):c.403A>G (p.Lys135Glu) rs794727700
NM_000182.5(HADHA):c.411T>C (p.Ile137=) rs1574625100
NM_000182.5(HADHA):c.431C>T (p.Ser144Phe) rs758107197
NM_000182.5(HADHA):c.432C>A (p.Ser144=) rs2147782494
NM_000182.5(HADHA):c.432C>G (p.Ser144=) rs2147782494
NM_000182.5(HADHA):c.439G>T (p.Gly147Ter) rs1460602961
NM_000182.5(HADHA):c.451G>T (p.Glu151Ter) rs1670693281
NM_000182.5(HADHA):c.453+12C>G
NM_000182.5(HADHA):c.453+14A>G
NM_000182.5(HADHA):c.453+14A>T
NM_000182.5(HADHA):c.453+1G>A rs1057516417
NM_000182.5(HADHA):c.453+20_453+22del
NM_000182.5(HADHA):c.453+9A>G
NM_000182.5(HADHA):c.454-12A>G
NM_000182.5(HADHA):c.454-12_454-11del
NM_000182.5(HADHA):c.454-13C>A
NM_000182.5(HADHA):c.454-13C>T rs367636661
NM_000182.5(HADHA):c.454-17C>G
NM_000182.5(HADHA):c.454-5C>T
NM_000182.5(HADHA):c.454-8G>T rs1175400236
NM_000182.5(HADHA):c.45C>T (p.Ala15=)
NM_000182.5(HADHA):c.467G>A (p.Cys156Tyr) rs1670643151
NM_000182.5(HADHA):c.469C>T (p.Gln157Ter)
NM_000182.5(HADHA):c.474C>A (p.Tyr158Ter) rs11552518
NM_000182.5(HADHA):c.496A>G (p.Lys166Glu)
NM_000182.5(HADHA):c.501A>G (p.Thr167=)
NM_000182.5(HADHA):c.507A>G (p.Leu169=)
NM_000182.5(HADHA):c.512C>T (p.Thr171Ile)
NM_000182.5(HADHA):c.513C>T (p.Thr171=)
NM_000182.5(HADHA):c.515del (p.Pro172fs) rs1057517282
NM_000182.5(HADHA):c.540A>G (p.Pro180=)
NM_000182.5(HADHA):c.546A>G (p.Ala182=)
NM_000182.5(HADHA):c.556C>T (p.Gln186Ter) rs2147781182
NM_000182.5(HADHA):c.558A>G (p.Gln186=)
NM_000182.5(HADHA):c.560G>A (p.Arg187Lys)
NM_000182.5(HADHA):c.564G>A (p.Leu188=) rs2147781176
NM_000182.5(HADHA):c.566_567delinsA (p.Pro189fs)
NM_000182.5(HADHA):c.567C>G (p.Pro189=)
NM_000182.5(HADHA):c.573+15C>T
NM_000182.5(HADHA):c.573+1G>A
NM_000182.5(HADHA):c.573+7C>G
NM_000182.5(HADHA):c.573+8T>C rs2147781158
NM_000182.5(HADHA):c.573G>A (p.Met191Ile) rs2147781167
NM_000182.5(HADHA):c.574-13G>A
NM_000182.5(HADHA):c.574-13G>T
NM_000182.5(HADHA):c.574-17C>T
NM_000182.5(HADHA):c.574-2A>G rs1670591013
NM_000182.5(HADHA):c.574-4T>G
NM_000182.5(HADHA):c.574-4dup rs763636903
NM_000182.5(HADHA):c.574-5G>A rs1248416510
NM_000182.5(HADHA):c.574-6T>C
NM_000182.5(HADHA):c.574-9G>T
NM_000182.5(HADHA):c.57C>G (p.Leu19=)
NM_000182.5(HADHA):c.592T>C (p.Leu198=)
NM_000182.5(HADHA):c.594G>A (p.Leu198=)
NM_000182.5(HADHA):c.609T>G (p.Thr203=) rs2147779949
NM_000182.5(HADHA):c.612T>A (p.Gly204=) rs2147779944
NM_000182.5(HADHA):c.612dup (p.Arg205Ter) rs1574623071
NM_000182.5(HADHA):c.621T>C (p.Ile207=)
NM_000182.5(HADHA):c.623G>A (p.Arg208His)
NM_000182.5(HADHA):c.624T>C (p.Arg208=) rs2147779940
NM_000182.5(HADHA):c.627A>G (p.Ala209=)
NM_000182.5(HADHA):c.633G>A (p.Arg211=) rs2147779928
NM_000182.5(HADHA):c.637_638del (p.Lys213fs)
NM_000182.5(HADHA):c.63C>T (p.Ser21=) rs2147789695
NM_000182.5(HADHA):c.640A>T (p.Lys214Ter) rs1670589674
NM_000182.5(HADHA):c.64C>T (p.Arg22Ter) rs1300516636
NM_000182.5(HADHA):c.651G>T (p.Leu217=)
NM_000182.5(HADHA):c.654T>C (p.Val218=)
NM_000182.5(HADHA):c.658C>T (p.Gln220Ter)
NM_000182.5(HADHA):c.661C>T (p.Leu221=) rs1574623021
NM_000182.5(HADHA):c.667G>T (p.Glu223Ter) rs1670587952
NM_000182.5(HADHA):c.669A>G (p.Glu223=) rs748977241
NM_000182.5(HADHA):c.67+13C>G
NM_000182.5(HADHA):c.67+14G>A
NM_000182.5(HADHA):c.67+16G>C
NM_000182.5(HADHA):c.67+18G>A
NM_000182.5(HADHA):c.67+18G>T
NM_000182.5(HADHA):c.67+1G>A
NM_000182.5(HADHA):c.67+9T>C
NM_000182.5(HADHA):c.676+1G>A rs1670587668
NM_000182.5(HADHA):c.676+6T>C rs886055863
NM_000182.5(HADHA):c.677-16G>T
NM_000182.5(HADHA):c.677-17T>A
NM_000182.5(HADHA):c.677-1G>A rs1553314070
NM_000182.5(HADHA):c.677-20T>C
NM_000182.5(HADHA):c.677-2A>G
NM_000182.5(HADHA):c.677-6T>C rs2147770003
NM_000182.5(HADHA):c.677-9T>C rs2147770005
NM_000182.5(HADHA):c.678A>C (p.Gly226=)
NM_000182.5(HADHA):c.68-12C>G
NM_000182.5(HADHA):c.68-12C>T
NM_000182.5(HADHA):c.68-14G>A
NM_000182.5(HADHA):c.68-16A>C
NM_000182.5(HADHA):c.68-18A>T
NM_000182.5(HADHA):c.68-4A>G
NM_000182.5(HADHA):c.68-7C>T rs1670832440
NM_000182.5(HADHA):c.687A>G (p.Leu229=) rs2147769994
NM_000182.5(HADHA):c.690del (p.Lys230fs) rs2147769993
NM_000182.5(HADHA):c.693T>C (p.Pro231=)
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.703_704dup (p.Thr236fs)
NM_000182.5(HADHA):c.704G>A (p.Arg235Gln)
NM_000182.5(HADHA):c.70dup (p.Tyr24fs)
NM_000182.5(HADHA):c.711A>G (p.Ile237Met)
NM_000182.5(HADHA):c.713A>C (p.Glu238Ala)
NM_000182.5(HADHA):c.717C>A (p.Tyr239Ter)
NM_000182.5(HADHA):c.72T>C (p.Tyr24=)
NM_000182.5(HADHA):c.72del (p.Gly23_Tyr24insTer) rs1553316176
NM_000182.5(HADHA):c.734T>G (p.Ile245Ser)
NM_000182.5(HADHA):c.73A>G (p.Ile25Val)
NM_000182.5(HADHA):c.743C>T (p.Ala248Val) rs199688741
NM_000182.5(HADHA):c.744C>G (p.Ala248=)
NM_000182.5(HADHA):c.744C>T (p.Ala248=)
NM_000182.5(HADHA):c.750A>G (p.Gly250=)
NM_000182.5(HADHA):c.759T>C (p.Asp253=)
NM_000182.5(HADHA):c.761_764del (p.Lys254fs)
NM_000182.5(HADHA):c.761del (p.Lys254fs)
NM_000182.5(HADHA):c.767T>A (p.Ile256Asn) rs1490396477
NM_000182.5(HADHA):c.774A>G (p.Pro258=) rs2147769914
NM_000182.5(HADHA):c.785A>C (p.Lys262Thr)
NM_000182.5(HADHA):c.790T>C (p.Leu264=)
NM_000182.5(HADHA):c.799+10A>C rs2147769884
NM_000182.5(HADHA):c.799+13G>A
NM_000182.5(HADHA):c.799+18dup
NM_000182.5(HADHA):c.799+1G>A
NM_000182.5(HADHA):c.799+5G>A
NM_000182.5(HADHA):c.799+7A>G
NM_000182.5(HADHA):c.799+8T>A rs1451443100
NM_000182.5(HADHA):c.800-16del
NM_000182.5(HADHA):c.800-1G>T rs1553314024
NM_000182.5(HADHA):c.800-1_801del rs1553314023
NM_000182.5(HADHA):c.800-20A>G
NM_000182.5(HADHA):c.800-9A>G rs2147769623
NM_000182.5(HADHA):c.800A>G (p.Lys267Arg)
NM_000182.5(HADHA):c.808G>A (p.Ala270Thr) rs1574615066
NM_000182.5(HADHA):c.80G>A (p.Arg27His) rs200145855
NM_000182.5(HADHA):c.80G>T (p.Arg27Leu) rs200145855
NM_000182.5(HADHA):c.815C>A (p.Ala272Asp)
NM_000182.5(HADHA):c.81C>T (p.Arg27=)
NM_000182.5(HADHA):c.841C>T (p.Gln281Ter)
NM_000182.5(HADHA):c.844_845insA (p.Val282fs) rs774235292
NM_000182.5(HADHA):c.846T>A (p.Val282=) rs1574615034
NM_000182.5(HADHA):c.849C>T (p.Tyr283=)
NM_000182.5(HADHA):c.859G>T (p.Glu287Ter) rs1670172615
NM_000182.5(HADHA):c.862G>T (p.Glu288Ter) rs1670172561
NM_000182.5(HADHA):c.870G>A (p.Val290=) rs771022089
NM_000182.5(HADHA):c.871C>T (p.Arg291Ter) rs137852775
NM_000182.5(HADHA):c.874A>T (p.Lys292Ter)
NM_000182.5(HADHA):c.878dup (p.Thr294fs)
NM_000182.5(HADHA):c.879G>A (p.Gln293=)
NM_000182.5(HADHA):c.882T>A (p.Thr294=)
NM_000182.5(HADHA):c.882T>C (p.Thr294=) rs769959246
NM_000182.5(HADHA):c.891T>A (p.Leu297=) rs748396892
NM_000182.5(HADHA):c.893del (p.Tyr298fs)
NM_000182.5(HADHA):c.901C>A (p.Pro301Thr)
NM_000182.5(HADHA):c.914T>A (p.Ile305Asn) rs137852774
NM_000182.5(HADHA):c.918+15A>G
NM_000182.5(HADHA):c.918+16T>G
NM_000182.5(HADHA):c.918+20C>T
NM_000182.5(HADHA):c.919-10T>C rs2147768564
NM_000182.5(HADHA):c.919-11A>G
NM_000182.5(HADHA):c.919-15T>G
NM_000182.5(HADHA):c.919-1G>A
NM_000182.5(HADHA):c.919-7T>G rs2147768563
NM_000182.5(HADHA):c.930T>C (p.Thr310=) rs1670129457
NM_000182.5(HADHA):c.930_931del (p.Gly311fs)
NM_000182.5(HADHA):c.932G>C (p.Gly311Ala) rs886055862
NM_000182.5(HADHA):c.93G>A (p.Gly31=) rs2147785589
NM_000182.5(HADHA):c.944G>A (p.Gly315Glu)
NM_000182.5(HADHA):c.944_956del (p.Gly315fs)
NM_000182.5(HADHA):c.954C>A (p.Ala318=)
NM_000182.5(HADHA):c.957T>C (p.Gly319=)
NM_000182.5(HADHA):c.959del (p.Tyr320fs)
NM_000182.5(HADHA):c.960T>A (p.Tyr320Ter) rs1670128490
NM_000182.5(HADHA):c.966_967del (p.Cys322_Glu323delinsTer) rs2147768516
NM_000182.5(HADHA):c.975+12del
NM_000182.5(HADHA):c.975+17dup
NM_000182.5(HADHA):c.975+20A>G
NM_000182.5(HADHA):c.975G>A (p.Gln325=) rs751970693
NM_000182.5(HADHA):c.976-10T>A
NM_000182.5(HADHA):c.976-12T>C
NM_000182.5(HADHA):c.976-18T>C
NM_000182.5(HADHA):c.976-19A>C rs2147766738
NM_000182.5(HADHA):c.976-1G>T rs2147766716
NM_000182.5(HADHA):c.976-20C>T
NM_000182.5(HADHA):c.976-2A>G
NM_000182.5(HADHA):c.984A>G (p.Gly328=)
NM_000182.5(HADHA):c.990T>C (p.Leu330=) rs1433589314
NM_000182.5(HADHA):c.995T>C (p.Met332Thr)
NM_000182.5(HADHA):c.995T>G (p.Met332Arg) rs752285354
NM_000182.5(HADHA):c.999C>A (p.Thr333=) rs2147766687
Single allele

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