ClinVar Miner

List of variants reported as pathogenic for Maple syrup urine disease

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 325
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_183050.4(BCKDHB):c.832G>A (p.Gly278Ser) rs386834233 0.00061
NM_001918.5(DBT):c.901C>T (p.Arg301Cys) rs185492864 0.00025
NM_001918.5(DBT):c.670G>T (p.Glu224Ter) rs74103423 0.00022
NM_183050.4(BCKDHB):c.853C>T (p.Arg285Ter) rs398124598 0.00015
NM_000709.4(BCKDHA):c.1312T>A (p.Tyr438Asn) rs137852870 0.00013
NM_001918.5(DBT):c.827T>G (p.Phe276Cys) rs121964999 0.00011
NM_183050.4(BCKDHB):c.548G>C (p.Arg183Pro) rs79761867 0.00010
NM_000709.4(BCKDHA):c.853G>C (p.Ala285Pro) rs398123508 0.00009
NM_183050.4(BCKDHB):c.509G>A (p.Arg170His) rs371518124 0.00006
NM_001918.5(DBT):c.1018-550A>G rs796052135 0.00004
NM_001918.5(DBT):c.75_76del (p.Cys26fs) rs768832921 0.00004
NM_183050.4(BCKDHB):c.502C>T (p.Arg168Cys) rs398124579 0.00004
NM_000709.4(BCKDHA):c.137C>A (p.Ser46Ter) rs376456598 0.00003
NM_000709.4(BCKDHA):c.288+9C>T rs398123497 0.00003
NM_000709.4(BCKDHA):c.370C>T (p.Arg124Trp) rs398123499 0.00003
NM_000709.4(BCKDHA):c.890G>A (p.Arg297His) rs200137189 0.00003
NM_001918.5(DBT):c.252G>T (p.Trp84Cys) rs200638406 0.00003
NM_183050.4(BCKDHB):c.33_34del (p.Leu12fs) rs398124572 0.00003
NM_000709.4(BCKDHA):c.1087C>T (p.Arg363Trp) rs942815730 0.00002
NM_000709.4(BCKDHA):c.288+1G>A rs398123496 0.00002
NM_000709.4(BCKDHA):c.565C>T (p.Arg189Cys) rs886042356 0.00002
NM_000709.4(BCKDHA):c.659C>T (p.Ala220Val) rs375785084 0.00002
NM_000709.4(BCKDHA):c.889C>T (p.Arg297Cys) rs145901144 0.00002
NM_001918.5(DBT):c.401C>T (p.Pro134Leu) rs1131691488 0.00002
NM_183050.4(BCKDHB):c.1016C>T (p.Ser339Leu) rs398124561 0.00002
NM_183050.4(BCKDHB):c.1087T>A (p.Tyr363Asn) rs398124565 0.00002
NM_000709.4(BCKDHA):c.1036C>T (p.Arg346Cys) rs182923857 0.00001
NM_000709.4(BCKDHA):c.1037G>A (p.Arg346His) rs398123486 0.00001
NM_000709.4(BCKDHA):c.1061G>A (p.Trp354Ter) rs1214763792 0.00001
NM_000709.4(BCKDHA):c.1069C>T (p.Gln357Ter) rs762199542 0.00001
NM_000709.4(BCKDHA):c.1234G>A (p.Val412Met) rs398123490 0.00001
NM_000709.4(BCKDHA):c.127C>T (p.Gln43Ter) rs374625613 0.00001
NM_000709.4(BCKDHA):c.130C>T (p.Gln44Ter) rs1220443382 0.00001
NM_000709.4(BCKDHA):c.475C>T (p.Arg159Trp) rs769688327 0.00001
NM_000709.4(BCKDHA):c.476G>A (p.Arg159Gln) rs773048903 0.00001
NM_000709.4(BCKDHA):c.632C>T (p.Thr211Met) rs398123503 0.00001
NM_000709.4(BCKDHA):c.647-1G>C rs753216964 0.00001
NM_000709.4(BCKDHA):c.647C>T (p.Ala216Val) rs369448982 0.00001
NM_000709.4(BCKDHA):c.745G>A (p.Gly249Ser) rs137852874 0.00001
NM_000709.4(BCKDHA):c.757G>A (p.Ala253Thr) rs199599175 0.00001
NM_000709.4(BCKDHA):c.793C>T (p.Arg265Trp) rs137852873 0.00001
NM_000709.4(BCKDHA):c.854-2A>G rs760494152 0.00001
NM_000709.4(BCKDHA):c.868G>A (p.Gly290Arg) rs137852871 0.00001
NM_000709.4(BCKDHA):c.884C>A (p.Ser295Ter) rs1318419473 0.00001
NM_000709.4(BCKDHA):c.929C>G (p.Thr310Arg) rs137852875 0.00001
NM_000709.4(BCKDHA):c.940C>T (p.Arg314Ter) rs753698250 0.00001
NM_000709.4(BCKDHA):c.979G>A (p.Glu327Lys) rs398123515 0.00001
NM_001918.5(DBT):c.1017G>A (p.Lys339=) rs1490661508 0.00001
NM_001918.5(DBT):c.1291C>T (p.Arg431Ter) rs398123660 0.00001
NM_001918.5(DBT):c.1430T>G (p.Met477Arg) rs398123662 0.00001
NM_001918.5(DBT):c.206T>C (p.Leu69Pro) rs1663813561 0.00001
NM_001918.5(DBT):c.365A>G (p.Tyr122Cys) rs727503896 0.00001
NM_001918.5(DBT):c.434-15_434-4del rs727503895 0.00001
NM_001918.5(DBT):c.52-1G>A rs755914063 0.00001
NM_001918.5(DBT):c.871C>T (p.Arg291Ter) rs398123675 0.00001
NM_001918.5(DBT):c.902G>A (p.Arg301His) rs770981889 0.00001
NM_001918.5(DBT):c.939G>C (p.Lys313Asn) rs398123676 0.00001
NM_183050.4(BCKDHB):c.1067C>T (p.Pro356Leu) rs1304667430 0.00001
NM_183050.4(BCKDHB):c.1159C>T (p.Arg387Ter) rs751599203 0.00001
NM_183050.4(BCKDHB):c.152del (p.Val51fs) rs867612284 0.00001
NM_183050.4(BCKDHB):c.181G>T (p.Glu61Ter) rs774916970 0.00001
NM_183050.4(BCKDHB):c.1A>T (p.Met1Leu) rs1005542482 0.00001
NM_183050.4(BCKDHB):c.302G>A (p.Gly101Asp) rs398124571 0.00001
NM_183050.4(BCKDHB):c.410C>T (p.Ala137Val) rs776631396 0.00001
NM_183050.4(BCKDHB):c.554C>T (p.Pro185Leu) rs148905512 0.00001
NM_183050.4(BCKDHB):c.564T>A (p.Cys188Ter) rs774306610 0.00001
NM_183050.4(BCKDHB):c.633+1G>A rs398124589 0.00001
NM_183050.4(BCKDHB):c.641T>A (p.Ile214Lys) rs796051940 0.00001
NM_183050.4(BCKDHB):c.752T>C (p.Val251Ala) rs398124593 0.00001
NM_183050.4(BCKDHB):c.799C>T (p.Gln267Ter) rs398124594 0.00001
NM_183050.4(BCKDHB):c.79_89del (p.Pro27fs) rs1057516795 0.00001
NM_183050.4(BCKDHB):c.970C>T (p.Arg324Ter) rs398124603 0.00001
NC_000001.10:g.(?_100652477)_(100661979_100671785)del
NC_000001.10:g.(?_100680363)_(100684318_?)del
NC_000001.11:g.(?_100196235)_(100196442_?)del
NC_000001.11:g.(?_100214807)_(100230924_?)del
NC_000001.11:g.(?_100240751)_(100240894_?)del
NC_000006.11:g.(?_79650410)_(80912949_?)del
NC_000006.11:g.(?_80816317)_(80838956_?)del
NC_000006.11:g.(?_80816391)_(81053541_?)del
NC_000006.11:g.(?_80816411)_(80816626_?)del
NC_000006.11:g.(?_80816411)_(81053521_?)del
NC_000006.11:g.(?_80837244)_(80982958_?)del
NC_000006.11:g.(?_80877385)_(80878757_?)del
NC_000006.11:g.(?_80880989)_(81055997_?)del
NC_000006.11:g.(?_80910651)_(80910770_?)del
NC_000006.12:g.(?_80106674)_(80106909_?)del
NC_000006.12:g.(?_80167668)_(80171400_?)del
NC_000006.12:g.(?_80200924)_(80201041_?)del
NC_000019.10:g.(?_41397818)_(41414167_?)del
NC_000019.10:g.(?_41424428)_(41424831_?)del
NC_000019.9:g.(?_41903723)_(41903850_?)del
NC_000019.9:g.(?_41903723)_(41916924_?)del
NC_000019.9:g.(?_41903723)_(41930736_?)del
NC_000019.9:g.(?_41916532)_(41920072_?)del
NC_000019.9:g.(?_41925030)_(41930736_?)del
NM_000709.4(BCKDHA):c.1008_1015del (p.His336fs) rs1330793674
NM_000709.4(BCKDHA):c.1028C>G (p.Ser343Ter) rs774735002
NM_000709.4(BCKDHA):c.109-1G>A rs2123253583
NM_000709.4(BCKDHA):c.1110_1119del (p.Gln371fs) rs1599962569
NM_000709.4(BCKDHA):c.1119G>A (p.Trp373Ter) rs765543886
NM_000709.4(BCKDHA):c.1121G>A (p.Trp374Ter)
NM_000709.4(BCKDHA):c.1137del (p.Lys380fs)
NM_000709.4(BCKDHA):c.1167+1del rs1555767169
NM_000709.4(BCKDHA):c.1168-2A>G rs1555767285
NM_000709.4(BCKDHA):c.116_117dup (p.Arg40fs) rs398123489
NM_000709.4(BCKDHA):c.117del (p.Arg40fs) rs398123489
NM_000709.4(BCKDHA):c.117dup (p.Arg40fs) rs398123489
NM_000709.4(BCKDHA):c.1198A>T (p.Lys400Ter) rs863225262
NM_000709.4(BCKDHA):c.1226T>G (p.Phe409Cys) rs137852872
NM_000709.4(BCKDHA):c.1237dup (p.Tyr413fs)
NM_000709.4(BCKDHA):c.1280_1282del (p.Leu427_Ala428delinsPro) rs755691417
NM_000709.4(BCKDHA):c.12_13insGACGGGCGAGGTGGCTCACGCCTGAAATCCCAGCACTATGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGATGGCGGTAGCG (p.Ile5fs)
NM_000709.4(BCKDHA):c.1306G>T (p.Glu436Ter) rs1298823471
NM_000709.4(BCKDHA):c.1310_1311del (p.His437fs) rs398123492
NM_000709.4(BCKDHA):c.143del (p.Leu48fs) rs1555765593
NM_000709.4(BCKDHA):c.14del (p.Ile5fs) rs398123494
NM_000709.4(BCKDHA):c.253C>T (p.Gln85Ter)
NM_000709.4(BCKDHA):c.277G>T (p.Glu93Ter)
NM_000709.4(BCKDHA):c.318C>G (p.Tyr106Ter)
NM_000709.4(BCKDHA):c.319A>T (p.Lys107Ter)
NM_000709.4(BCKDHA):c.332T>C (p.Leu111Pro) rs1568503938
NM_000709.4(BCKDHA):c.33G>A (p.Trp11Ter) rs1207966026
NM_000709.4(BCKDHA):c.347A>G (p.Asp116Gly) rs398123498
NM_000709.4(BCKDHA):c.357_358del (p.Leu119_Tyr120insTer) rs2123254646
NM_000709.4(BCKDHA):c.367C>T (p.Gln123Ter) rs2039247540
NM_000709.4(BCKDHA):c.379C>T (p.Arg127Trp)
NM_000709.4(BCKDHA):c.399delinsAA (p.Asn134fs) rs1057519059
NM_000709.4(BCKDHA):c.402del (p.Tyr135fs)
NM_000709.4(BCKDHA):c.410_426dup (p.Gly143fs)
NM_000709.4(BCKDHA):c.416del (p.Gly139fs)
NM_000709.4(BCKDHA):c.41del (p.Asn14fs)
NM_000709.4(BCKDHA):c.454G>A (p.Asp152Asn) rs2122122610
NM_000709.4(BCKDHA):c.470A>C (p.Gln157Pro) rs869312125
NM_000709.4(BCKDHA):c.507C>G (p.Tyr169Ter)
NM_000709.4(BCKDHA):c.511del (p.Leu171fs) rs762084007
NM_000709.4(BCKDHA):c.529C>T (p.Gln177Ter)
NM_000709.4(BCKDHA):c.554del (p.Leu185fs) rs1568506608
NM_000709.4(BCKDHA):c.55C>T (p.Gln19Ter)
NM_000709.4(BCKDHA):c.644_645del (p.Gln215fs)
NM_000709.4(BCKDHA):c.653G>C (p.Gly218Ala) rs2039372961
NM_000709.4(BCKDHA):c.659del (p.Ala220fs)
NM_000709.4(BCKDHA):c.661_664del (p.Tyr221fs) rs796051938
NM_000709.4(BCKDHA):c.663del (p.Ala220_Tyr221insTer) rs2122142757
NM_000709.4(BCKDHA):c.67del (p.Leu23fs)
NM_000709.4(BCKDHA):c.699_700del (p.Ile233fs)
NM_000709.4(BCKDHA):c.701_702del (p.Cys234fs) rs2122142979
NM_000709.4(BCKDHA):c.712G>T (p.Glu238Ter) rs1303770209
NM_000709.4(BCKDHA):c.718del (p.Ala240fs) rs1555766993
NM_000709.4(BCKDHA):c.740A>G (p.His247Arg) rs1468416468
NM_000709.4(BCKDHA):c.741dup (p.Ala248fs) rs398123504
NM_000709.4(BCKDHA):c.761C>A (p.Ala254Asp) rs373713279
NM_000709.4(BCKDHA):c.773_774delinsAA (p.Cys258Ter) rs2122143379
NM_000709.4(BCKDHA):c.776C>T (p.Pro259Leu) rs2122143393
NM_000709.4(BCKDHA):c.782TCT[2] (p.Phe263del) rs398123505
NM_000709.4(BCKDHA):c.78del (p.Gln27fs) rs2123232769
NM_000709.4(BCKDHA):c.792C>G (p.Cys264Trp) rs137852876
NM_000709.4(BCKDHA):c.794G>A (p.Arg265Gln) rs761996996
NM_000709.4(BCKDHA):c.794G>C (p.Arg265Pro) rs761996996
NM_000709.4(BCKDHA):c.796_797delinsT (p.Asn266fs)
NM_000709.4(BCKDHA):c.835del (p.Tyr279fs)
NM_000709.4(BCKDHA):c.844G>C (p.Asp282His) rs869312124
NM_000709.4(BCKDHA):c.859C>T (p.Arg287Ter) rs764247545
NM_000709.4(BCKDHA):c.861_868del (p.Gly288fs) rs794727847
NM_000709.4(BCKDHA):c.905A>C (p.Asp302Ala) rs398123509
NM_000709.4(BCKDHA):c.909_910del (p.Phe304fs) rs398123510
NM_000709.4(BCKDHA):c.964C>T (p.Gln322Ter) rs398123513
NM_001318975.1(BCKDHB):c.-70_-15+207del rs1554180622
NM_001918.5(DBT):c.1033G>A (p.Gly345Arg) rs869312132
NM_001918.5(DBT):c.1082dup (p.Asn361fs) rs1570806631
NM_001918.5(DBT):c.1132C>T (p.Gln378Ter)
NM_001918.5(DBT):c.113_114del (p.Cys38fs) rs2100844690
NM_001918.5(DBT):c.1195T>G (p.Ser399Ala) rs1553229654
NM_001918.5(DBT):c.1195del (p.Ser399fs) rs2100779888
NM_001918.5(DBT):c.1209+1G>A rs1661795778
NM_001918.5(DBT):c.1232C>T (p.Pro411Leu) rs2100779419
NM_001918.5(DBT):c.1264dup (p.Ala422fs) rs1401829291
NM_001918.5(DBT):c.126T>G (p.Tyr42Ter) rs794727262
NM_001918.5(DBT):c.1281+2T>A rs2100779270
NM_001918.5(DBT):c.1292G>C (p.Arg431Pro) rs776490043
NM_001918.5(DBT):c.1324C>T (p.Gln442Ter) rs1276927916
NM_001918.5(DBT):c.1333_1336del (p.Met444_Asn445insTer) rs2100761028
NM_001918.5(DBT):c.1342_1351del (p.Trp448fs)
NM_001918.5(DBT):c.1343G>A (p.Trp448Ter) rs749366506
NM_001918.5(DBT):c.1382C>A (p.Ser461Ter) rs1553228626
NM_001918.5(DBT):c.1385G>C (p.Arg462Pro) rs750594890
NM_001918.5(DBT):c.143_146dup (p.His49fs) rs1384034981
NM_001918.5(DBT):c.17dup (p.Met6fs) rs2100772715
NM_001918.5(DBT):c.241_242del (p.Thr80_Val81insTer) rs2100834784
NM_001918.5(DBT):c.247del (p.Glu83fs)
NM_001918.5(DBT):c.260AAG[1] (p.Glu88del) rs1217050849
NM_001918.5(DBT):c.261del (p.Glu88fs) rs1570836175
NM_001918.5(DBT):c.272_275del (p.Thr91fs) rs398123666
NM_001918.5(DBT):c.280C>T (p.Gln94Ter)
NM_001918.5(DBT):c.29G>A (p.Trp10Ter) rs572340170
NM_001918.5(DBT):c.304C>T (p.Gln102Ter) rs2100827593
NM_001918.5(DBT):c.311A>G (p.Asp104Gly) rs1553232188
NM_001918.5(DBT):c.363_364del (p.Tyr122fs) rs753574354
NM_001918.5(DBT):c.364dup (p.Tyr122fs)
NM_001918.5(DBT):c.365_366del (p.Tyr122fs) rs2100827350
NM_001918.5(DBT):c.437C>A (p.Ser146Ter)
NM_001918.5(DBT):c.442G>T (p.Glu148Ter) rs1570820579
NM_001918.5(DBT):c.457del (p.Thr153fs)
NM_001918.5(DBT):c.488_489del (p.His163fs) rs760861011
NM_001918.5(DBT):c.501_513del (p.Lys167fs)
NM_001918.5(DBT):c.51+1G>T rs398123669
NM_001918.5(DBT):c.516_522del (p.Ala173fs) rs2100804340
NM_001918.5(DBT):c.52-1G>C rs755914063
NM_001918.5(DBT):c.531_537del (p.Arg178fs) rs1372109444
NM_001918.5(DBT):c.555dup (p.Ile186fs)
NM_001918.5(DBT):c.581C>A (p.Ser194Ter)
NM_001918.5(DBT):c.634C>T (p.Gln212Ter) rs1553230841
NM_001918.5(DBT):c.639del (p.Gly214fs)
NM_001918.5(DBT):c.650dup (p.Leu217fs)
NM_001918.5(DBT):c.663_670del (p.Lys222fs) rs748851630
NM_001918.5(DBT):c.725C>G (p.Ser242Ter) rs201559874
NM_001918.5(DBT):c.762del (p.Glu254fs) rs2100799447
NM_001918.5(DBT):c.783del (p.Ala262fs)
NM_001918.5(DBT):c.788T>C (p.Met263Thr) rs1553230703
NM_001918.5(DBT):c.799_800del (p.Met267fs)
NM_001918.5(DBT):c.828del (p.Phe276fs)
NM_001918.5(DBT):c.872G>T (p.Arg291Leu) rs775808731
NM_001918.5(DBT):c.881T>A (p.Leu294Ter)
NM_001918.5(DBT):c.910_919del (p.Lys304fs) rs2100797119
NM_001918.5(DBT):c.916T>C (p.Ser306Pro) rs2100797134
NM_001918.5(DBT):c.947_950del (p.Ser316fs)
NM_001918.5(DBT):c.961C>T (p.Gln321Ter) rs1662088383
NM_001918.5(DBT):c.961_962del (p.Gln321fs) rs2100788460
NM_183050.4(BCKDHB):c.1006G>A (p.Gly336Ser) rs398124560
NM_183050.4(BCKDHB):c.1007dup (p.Phe337fs)
NM_183050.4(BCKDHB):c.101del (p.Gly34fs)
NM_183050.4(BCKDHB):c.1022T>A (p.Ile341Asn) rs796051939
NM_183050.4(BCKDHB):c.1037A>G (p.Gln346Arg) rs2127965290
NM_183050.4(BCKDHB):c.1039-2A>G rs2128020522
NM_183050.4(BCKDHB):c.1042G>T (p.Glu348Ter)
NM_183050.4(BCKDHB):c.1046G>A (p.Cys349Tyr) rs398124562
NM_183050.4(BCKDHB):c.1065del (p.Pro356fs) rs869312129
NM_183050.4(BCKDHB):c.107dup (p.Leu36fs) rs1769085821
NM_183050.4(BCKDHB):c.1095_1096del (p.Pro366fs)
NM_183050.4(BCKDHB):c.1114G>T (p.Glu372Ter) rs386834234
NM_183050.4(BCKDHB):c.1149T>A (p.Tyr383Ter) rs190867671
NM_183050.4(BCKDHB):c.169C>T (p.Gln57Ter) rs1554181192
NM_183050.4(BCKDHB):c.195C>G (p.Tyr65Ter)
NM_183050.4(BCKDHB):c.196G>A (p.Gly66Arg) rs1328608014
NM_183050.4(BCKDHB):c.196G>C (p.Gly66Arg) rs1328608014
NM_183050.4(BCKDHB):c.196G>T (p.Gly66Trp) rs1328608014
NM_183050.4(BCKDHB):c.197-1G>C
NM_183050.4(BCKDHB):c.197-2A>C
NM_183050.4(BCKDHB):c.197-2A>G rs869312127
NM_183050.4(BCKDHB):c.1A>G (p.Met1Val) rs1005542482
NM_183050.4(BCKDHB):c.21dup (p.Ala8fs) rs2127698713
NM_183050.4(BCKDHB):c.234_249del (p.Ser79fs) rs2127726128
NM_183050.4(BCKDHB):c.235del (p.Ser79fs)
NM_183050.4(BCKDHB):c.25_35dup (p.Arg13fs) rs2127698743
NM_183050.4(BCKDHB):c.272del (p.Ala91fs) rs2127726212
NM_183050.4(BCKDHB):c.275-2A>G rs1554184224
NM_183050.4(BCKDHB):c.281_291del (p.Phe94fs) rs1380402024
NM_183050.4(BCKDHB):c.293T>G (p.Val98Gly) rs869312126
NM_183050.4(BCKDHB):c.29_32del (p.Trp10fs)
NM_183050.4(BCKDHB):c.2T>C (p.Met1Thr) rs940391887
NM_183050.4(BCKDHB):c.322dup (p.Val108fs) rs2127727907
NM_183050.4(BCKDHB):c.329_330delinsAA (p.Leu110Ter) rs2127727924
NM_183050.4(BCKDHB):c.331C>T (p.Arg111Ter) rs371117671
NM_183050.4(BCKDHB):c.342T>G (p.Tyr114Ter) rs398124573
NM_183050.4(BCKDHB):c.343+2T>G rs1554184237
NM_183050.4(BCKDHB):c.348del (p.Asp117fs) rs1400121541
NM_183050.4(BCKDHB):c.352dup (p.Arg118fs)
NM_183050.4(BCKDHB):c.368del (p.Pro123fs) rs1085307058
NM_183050.4(BCKDHB):c.392G>T (p.Gly131Val) rs774472182
NM_183050.4(BCKDHB):c.396del (p.Phe132fs) rs1562102740
NM_183050.4(BCKDHB):c.3G>A (p.Met1Ile) rs869312128
NM_183050.4(BCKDHB):c.401T>A (p.Ile134Asn) rs869312130
NM_183050.4(BCKDHB):c.403G>A (p.Gly135Arg) rs751953459
NM_183050.4(BCKDHB):c.410C>A (p.Ala137Glu) rs776631396
NM_183050.4(BCKDHB):c.477+1G>A rs1002472211
NM_183050.4(BCKDHB):c.487G>T (p.Glu163Ter) rs1057516799
NM_183050.4(BCKDHB):c.496A>T (p.Lys166Ter) rs1772735425
NM_183050.4(BCKDHB):c.503G>A (p.Arg168His) rs749033513
NM_183050.4(BCKDHB):c.508C>T (p.Arg170Cys) rs398124581
NM_183050.4(BCKDHB):c.508_513del (p.Arg170_Ser171del)
NM_183050.4(BCKDHB):c.525del (p.Phe175fs)
NM_183050.4(BCKDHB):c.525dup (p.Asn176Ter) rs2127775550
NM_183050.4(BCKDHB):c.532G>T (p.Gly178Ter)
NM_183050.4(BCKDHB):c.547C>T (p.Arg183Trp) rs149766077
NM_183050.4(BCKDHB):c.550del (p.Ser184fs)
NM_183050.4(BCKDHB):c.57_64dup (p.His22fs) rs1410520713
NM_183050.4(BCKDHB):c.580C>T (p.Leu194Phe)
NM_183050.4(BCKDHB):c.583dup (p.Tyr195fs) rs1772747408
NM_183050.4(BCKDHB):c.585T>A (p.Tyr195Ter)
NM_183050.4(BCKDHB):c.592_593del (p.Gln198fs) rs398124586
NM_183050.4(BCKDHB):c.595_596del (p.Ser199_Pro200insTer) rs398124587
NM_183050.4(BCKDHB):c.612del (p.Phe204fs) rs1210649507
NM_183050.4(BCKDHB):c.633+1G>T rs398124589
NM_183050.4(BCKDHB):c.658C>T (p.Gln220Ter) rs1772902148
NM_183050.4(BCKDHB):c.662_663del (p.Ala221fs)
NM_183050.4(BCKDHB):c.667G>T (p.Gly223Ter) rs1248040495
NM_183050.4(BCKDHB):c.68G>A (p.Trp23Ter)
NM_183050.4(BCKDHB):c.70_71insTTCCTGGCAGGGGCTGAGGA (p.Arg24delinsLeuProGlyArgGlyTer) rs1582146989
NM_183050.4(BCKDHB):c.714dup (p.Glu239Ter) rs1167005638
NM_183050.4(BCKDHB):c.721A>T (p.Lys241Ter)
NM_183050.4(BCKDHB):c.722_731dup (p.Tyr244Ter)
NM_183050.4(BCKDHB):c.730del (p.Tyr244fs) rs1057516572
NM_183050.4(BCKDHB):c.745G>T (p.Glu249Ter) rs1774361781
NM_183050.4(BCKDHB):c.748G>T (p.Glu250Ter) rs398124592
NM_183050.4(BCKDHB):c.756_759del (p.Ile253fs)
NM_183050.4(BCKDHB):c.75del (p.Leu26fs)
NM_183050.4(BCKDHB):c.803_806del (p.Glu268fs)
NM_183050.4(BCKDHB):c.811_824del (p.Asp271fs) rs1554194690
NM_183050.4(BCKDHB):c.817A>C (p.Thr273Pro) rs398124595
NM_183050.4(BCKDHB):c.818C>T (p.Thr273Ile)
NM_183050.4(BCKDHB):c.830G>A (p.Trp277Ter) rs1774369632
NM_183050.4(BCKDHB):c.840+2T>G rs398124596
NM_183050.4(BCKDHB):c.843dup (p.His282fs)
NM_183050.4(BCKDHB):c.880_881dup (p.Leu295fs)
NM_183050.4(BCKDHB):c.885del (p.Gly296fs) rs398124599
NM_183050.4(BCKDHB):c.907_910dup (p.Leu304fs)
NM_183050.4(BCKDHB):c.908dup (p.Asp303fs) rs1774478421
NM_183050.4(BCKDHB):c.932A>T (p.Asp311Val)
NM_183050.4(BCKDHB):c.93_103del (p.Ala32fs) rs398124601
NM_183050.4(BCKDHB):c.93_103dup (p.Phe35fs) rs398124601
NM_183050.4(BCKDHB):c.94del (p.Ala32fs) rs2127698980
NM_183050.4(BCKDHB):c.964A>G (p.Thr322Ala) rs869312131
NM_183050.4(BCKDHB):c.988G>A (p.Glu330Lys) rs1224101411
NM_183050.4(BCKDHB):c.988del (p.Glu330fs)
NM_183050.4(BCKDHB):c.995C>T (p.Pro332Leu) rs1554205541

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.