ClinVar Miner

List of variants studied for Maple syrup urine disease by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 314
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HGVS dbSNP gnomAD frequency
NM_183050.4(BCKDHB):c.*395G>T rs4706116 0.95752
NM_001918.5(DBT):c.*6902T>A rs200943386 0.79813
NM_001918.5(DBT):c.*5546G>A rs11166412 0.78278
NM_183050.4(BCKDHB):c.*627T>C rs4706838 0.78227
NM_183050.4(BCKDHB):c.*2271G>A rs15062 0.78187
NM_183050.4(BCKDHB):c.*994G>A rs4502885 0.78179
NM_183050.4(BCKDHB):c.*1875G>A rs7759304 0.78177
NM_183050.4(BCKDHB):c.*2282C>T rs10864 0.78176
NM_183050.4(BCKDHB):c.*1892T>C rs7740958 0.78169
NM_183050.4(BCKDHB):c.*1778A>G rs7758761 0.78168
NM_183050.4(BCKDHB):c.*304G>A rs926731 0.78168
NM_183050.4(BCKDHB):c.*1241A>G rs1042368 0.78159
NM_183050.4(BCKDHB):c.*293T>C rs926732 0.78149
NM_183050.4(BCKDHB):c.*1810T>C rs7740932 0.78143
NM_183050.4(BCKDHB):c.*789C>T rs4706118 0.78112
NM_183050.4(BCKDHB):c.*805T>C rs4706839 0.78101
NM_183050.4(BCKDHB):c.*121G>A rs926733 0.77743
NM_183050.4(BCKDHB):c.*1444T>C rs3805848 0.77735
NM_183050.4(BCKDHB):c.*1142C>G rs1042367 0.75871
NM_001918.5(DBT):c.*3233C>T rs2784174 0.74803
NM_001918.5(DBT):c.*5150A>G rs6701655 0.74788
NM_001918.5(DBT):c.*6228A>T rs4281338 0.74605
NM_183050.4(BCKDHB):c.*345C>T rs1811844 0.66759
NM_000709.4(BCKDHA):c.1221A>G (p.Leu407=) rs4674 0.66668
NM_000709.4(BCKDHA):c.972C>T (p.Phe324=) rs284652 0.66509
NM_002291.3(LAMB1):c.5225-7C>T rs3213673 0.64814
NM_000709.4(BCKDHA):c.376-10A>C rs3213861 0.59120
NM_183050.4(BCKDHB):c.197-11G>T rs9448894 0.42545
NM_183050.4(BCKDHB):c.*731C>T rs4706117 0.39858
NM_001918.5(DBT):c.1210-9A>T rs34229137 0.31080
NM_001918.5(DBT):c.*5317T>C rs11166413 0.30273
NM_001918.5(DBT):c.*6903T>A rs10783125 0.12973
NM_001918.5(DBT):c.*9082C>T rs72728160 0.12046
NM_000709.3(BCKDHA):c.-34T>G rs45500792 0.09943
NM_000709.4(BCKDHA):c.116C>A (p.Pro39His) rs11549936 0.07892
NM_183050.4(BCKDHB):c.*832C>T rs60566469 0.06661
NM_001918.5(DBT):c.1210-10T>A rs183058253 0.04736
NM_001918.5(DBT):c.*4395G>A rs79471979 0.04616
NM_001918.5(DBT):c.*985C>T rs11166414 0.04442
NM_001918.5(DBT):c.*5838G>A rs79887429 0.04380
NM_183050.4(BCKDHB):c.*236G>A rs145101575 0.04280
NM_001918.5(DBT):c.715A>G (p.Ile239Val) rs72973763 0.03442
NM_001918.5(DBT):c.*6646G>T rs72973747 0.03031
NM_000709.4(BCKDHA):c.1260C>T (p.Leu420=) rs34492894 0.02893
NM_000709.4(BCKDHA):c.996-6G>A rs74586298 0.02713
NM_001918.5(DBT):c.*344G>T rs58607634 0.02661
NM_000709.4(BCKDHA):c.*309A>G rs10421626 0.02605
NM_001918.5(DBT):c.*8977T>C rs113536022 0.02409
NM_001918.5(DBT):c.*8983dup rs67820832 0.02408
NM_001918.5(DBT):c.*4872A>G rs12044663 0.02047
NM_000709.4(BCKDHA):c.639C>T (p.Ile213=) rs10404506 0.01970
NM_001918.5(DBT):c.*470G>A rs148424011 0.01941
NM_183050.4(BCKDHB):c.*1158T>G rs74705661 0.01826
NM_183050.4(BCKDHB):c.*726A>G rs147544283 0.01811
NM_001918.5(DBT):c.*8607G>A rs150241889 0.01296
NM_001918.5(DBT):c.*5919A>G rs115442245 0.01236
NM_183050.4(BCKDHB):c.*440A>T rs113404985 0.01152
NM_001918.5(DBT):c.1281+6T>G rs140115881 0.01022
NM_000709.4(BCKDHA):c.34C>A (p.Arg12=) rs34541442 0.00893
NM_001918.5(DBT):c.724T>C (p.Ser242Pro) rs146249007 0.00864
NM_001918.5(DBT):c.*8552A>T rs543411196 0.00862
NM_000709.4(BCKDHA):c.*125C>T rs140867211 0.00851
NM_000709.4(BCKDHA):c.452C>T (p.Thr151Met) rs34442879 0.00790
NM_001918.5(DBT):c.*6901T>A rs200062717 0.00778
NM_000709.4(BCKDHA):c.995+9C>T rs13343330 0.00750
NM_001918.5(DBT):c.*7358C>T rs143822588 0.00725
NM_001918.5(DBT):c.*8944A>G rs77587629 0.00713
NM_001918.5(DBT):c.*4094C>A rs74825164 0.00603
NM_001918.5(DBT):c.*3652G>C rs755229964 0.00400
NM_000709.4(BCKDHA):c.975C>T (p.Leu325=) rs55940366 0.00365
NM_001918.5(DBT):c.506G>A (p.Arg169Gln) rs34267966 0.00341
NM_001918.5(DBT):c.*2810A>G rs116578353 0.00337
NM_001918.5(DBT):c.*5347C>T rs116806523 0.00337
NM_001918.5(DBT):c.*4124C>A rs139169068 0.00327
NM_000709.4(BCKDHA):c.484+5G>A rs149899007 0.00298
NM_183050.4(BCKDHB):c.*2212T>C rs191556844 0.00257
NM_183050.4(BCKDHB):c.*1798C>T rs535334878 0.00251
NM_001918.5(DBT):c.1418A>G (p.Asn473Ser) rs75525811 0.00196
NM_001918.5(DBT):c.753C>T (p.Asp251=) rs79292123 0.00179
NM_001918.5(DBT):c.*5328C>G rs150770445 0.00175
NM_001918.5(DBT):c.*594A>G rs147781191 0.00150
NM_000709.4(BCKDHA):c.*334C>T rs528816040 0.00133
NM_001918.5(DBT):c.*3461A>G rs532058526 0.00125
NM_000709.4(BCKDHA):c.15C>T (p.Ile5=) rs17173144 0.00103
NM_001918.5(DBT):c.*8083C>T rs190798710 0.00103
NM_001918.5(DBT):c.*8663T>C rs576300118 0.00103
NM_000709.4(BCKDHA):c.840C>T (p.Arg280=) rs61737367 0.00101
NM_001918.5(DBT):c.*1917C>A rs886044957 0.00096
NM_000709.4(BCKDHA):c.708C>T (p.Phe236=) rs146932786 0.00092
NM_001918.5(DBT):c.*2074A>C rs536515775 0.00092
NM_000709.4(BCKDHA):c.376-4C>T rs199725420 0.00084
NM_001918.5(DBT):c.*3521G>A rs754461561 0.00083
NM_001918.5(DBT):c.327C>T (p.Thr109=) rs138796800 0.00078
NM_001918.5(DBT):c.*4273C>A rs12568926 0.00074
NM_001918.5(DBT):c.*4506A>G rs112901689 0.00064
NM_000709.4(BCKDHA):c.1191C>T (p.Ala397=) rs374403946 0.00062
NM_000709.4(BCKDHA):c.*244C>T rs749083860 0.00061
NM_183050.4(BCKDHB):c.*1603G>A rs143744799 0.00057
NM_001918.5(DBT):c.*5969C>T rs141483625 0.00055
NM_183050.4(BCKDHB):c.*1554C>G rs563993638 0.00054
NM_000709.4(BCKDHA):c.289-5C>T rs200646708 0.00053
NM_000709.4(BCKDHA):c.1081A>G (p.Ile361Val) rs61736656 0.00052
NM_183050.4(BCKDHB):c.*83C>T rs564127416 0.00052
NM_001918.5(DBT):c.*7307G>C rs182980145 0.00051
NM_001918.5(DBT):c.1210-11T>A rs751951997 0.00049
NM_001918.5(DBT):c.*9105A>G rs574151688 0.00047
NM_000108.5(DLD):c.*1791_*1794del rs760145994 0.00046
NM_001918.5(DBT):c.*1332T>C rs191584096 0.00044
NM_183050.4(BCKDHB):c.*1010A>G rs536048070 0.00044
NM_000709.4(BCKDHA):c.288C>T (p.His96=) rs148571328 0.00043
NM_000709.4(BCKDHA):c.*20C>A rs370480422 0.00039
NM_000709.4(BCKDHA):c.63C>T (p.Ala21=) rs140322984 0.00038
NM_000709.4(BCKDHA):c.664G>A (p.Ala222Thr) rs141086188 0.00036
NM_001918.5(DBT):c.*6716C>G rs529415312 0.00033
NM_001918.5(DBT):c.*4291C>A rs1256627350 0.00032
NM_000709.4(BCKDHA):c.294G>A (p.Pro98=) rs142967869 0.00029
NM_001918.5(DBT):c.*9123A>G rs79752201 0.00029
NM_000709.3(BCKDHA):c.-25G>C rs202084220 0.00028
NM_001918.5(DBT):c.*1322C>T rs941752024 0.00026
NM_001918.5(DBT):c.*347C>T rs372982170 0.00026
NM_183050.4(BCKDHB):c.744G>A (p.Ala248=) rs147719822 0.00026
NM_001918.5(DBT):c.*4507T>C rs762813875 0.00025
NM_000709.4(BCKDHA):c.744C>T (p.Ala248=) rs137960127 0.00024
NM_001918.5(DBT):c.*5877G>C rs562874757 0.00024
NM_001918.5(DBT):c.*7698C>T rs185528579 0.00024
NM_001918.5(DBT):c.1210-8A>T rs535837017 0.00023
NM_183050.4(BCKDHB):c.*574A>G rs527284649 0.00023
NM_000709.4(BCKDHA):c.1251C>T (p.Pro417=) rs147021347 0.00021
NM_000709.4(BCKDHA):c.125A>G (p.Gln42Arg) rs150177278 0.00021
NM_001918.5(DBT):c.*2092A>T rs1055914530 0.00021
NM_001918.5(DBT):c.*5875T>G rs761370134 0.00021
NM_001918.5(DBT):c.*4250C>T rs774122510 0.00020
NM_183050.4(BCKDHB):c.*1315G>A rs760136719 0.00020
NM_183050.4(BCKDHB):c.*2072C>T rs183153737 0.00020
NM_183050.4(BCKDHB):c.*921C>T rs542630714 0.00020
NM_000709.4(BCKDHA):c.*314A>G rs535136507 0.00019
NM_183050.4(BCKDHB):c.63G>T (p.Gly21=) rs368345065 0.00019
NM_183050.4(BCKDHB):c.987C>T (p.His329=) rs138670449 0.00019
NM_001918.5(DBT):c.*9153_*9156del rs780877675 0.00017
NM_000709.4(BCKDHA):c.1211A>G (p.Asn404Ser) rs148090804 0.00016
NM_000709.4(BCKDHA):c.420G>A (p.Thr140=) rs143608852 0.00016
NM_001918.5(DBT):c.*295G>A rs556913110 0.00015
NM_001918.5(DBT):c.*918G>T rs555064255 0.00015
NM_000709.4(BCKDHA):c.*134C>T rs150173947 0.00014
NM_001918.5(DBT):c.*8275A>G rs189649370 0.00014
NM_001918.5(DBT):c.747C>A (p.Gly249=) rs200612682 0.00013
NM_001918.5(DBT):c.*4377C>G rs886044946 0.00012
NM_001918.5(DBT):c.*722C>T rs886044960 0.00012
NM_000709.4(BCKDHA):c.448A>G (p.Asn150Asp) rs140612545 0.00011
NM_001918.5(DBT):c.*2088A>T rs771850946 0.00011
NM_001918.5(DBT):c.827T>G (p.Phe276Cys) rs121964999 0.00011
NM_000709.4(BCKDHA):c.159G>C (p.Gln53His) rs775471043 0.00010
NM_001918.5(DBT):c.*2851C>T rs1023974357 0.00010
NM_183050.4(BCKDHB):c.548G>C (p.Arg183Pro) rs79761867 0.00010
NM_001918.5(DBT):c.*3336_*3338dup rs886044950 0.00009
NM_001918.5(DBT):c.*3789A>C rs757800211 0.00009
NM_001918.5(DBT):c.*4313G>A rs187287215 0.00009
NM_001918.5(DBT):c.*8118T>C rs758082965 0.00009
NM_001918.5(DBT):c.*8670A>G rs959425245 0.00009
NM_001918.5(DBT):c.*9228C>T rs1009840621 0.00009
NM_183050.4(BCKDHB):c.*466G>T rs886061809 0.00009
NM_001918.5(DBT):c.*3245G>A rs1266134285 0.00008
NM_001918.5(DBT):c.*7469T>C rs897269544 0.00008
NM_183050.4(BCKDHB):c.*569G>A rs1000319023 0.00008
NM_183050.4(BCKDHB):c.*644C>T rs535962304 0.00008
NM_183050.4(BCKDHB):c.*763G>A rs563470467 0.00008
NM_000709.4(BCKDHA):c.*384C>T rs535473868 0.00007
NM_000709.4(BCKDHA):c.288+10G>A rs376894084 0.00007
NM_001918.5(DBT):c.*8074G>A rs550751216 0.00007
NM_183050.4(BCKDHB):c.*2224T>A rs1037438345 0.00007
NM_001918.5(DBT):c.*1747A>G rs886044958 0.00006
NM_001918.5(DBT):c.*3455C>T rs886044949 0.00006
NM_001918.5(DBT):c.*551C>T rs756147809 0.00006
NM_001918.5(DBT):c.*5784T>C rs187688215 0.00006
NM_001918.5(DBT):c.*8734A>C rs564195699 0.00006
NM_001918.5(DBT):c.1127G>A (p.Arg376His) rs150934375 0.00006
NM_183050.4(BCKDHB):c.*1908A>G rs368380717 0.00006
NM_000709.4(BCKDHA):c.*126G>A rs748757436 0.00005
NM_001918.5(DBT):c.*4864C>T rs920810590 0.00005
NM_001918.5(DBT):c.*9230T>C rs893701906 0.00005
NM_001918.5(DBT):c.1111G>A (p.Ala371Thr) rs777868718 0.00005
NM_001918.5(DBT):c.291C>T (p.Ser97=) rs201318480 0.00005
NM_000709.4(BCKDHA):c.*213G>A rs766667517 0.00004
NM_000709.4(BCKDHA):c.*68G>A rs375492462 0.00004
NM_000709.4(BCKDHA):c.1192G>A (p.Glu398Lys) rs201168715 0.00004
NM_000709.4(BCKDHA):c.436G>A (p.Ala146Thr) rs373078413 0.00004
NM_001918.5(DBT):c.*293C>T rs1017324148 0.00004
NM_001918.5(DBT):c.*3586A>G rs541279304 0.00004
NM_001918.5(DBT):c.*8080C>G rs1018443361 0.00004
NM_001918.5(DBT):c.*8226G>T rs560160662 0.00004
NM_000709.4(BCKDHA):c.108+12G>A rs780834493 0.00003
NM_000709.4(BCKDHA):c.288+9C>T rs398123497 0.00003
NM_000709.4(BCKDHA):c.330A>T (p.Thr110=) rs201366184 0.00003
NM_000709.4(BCKDHA):c.976A>G (p.Ile326Val) rs781688443 0.00003
NM_001918.5(DBT):c.*2271A>C rs768839953 0.00003
NM_001918.5(DBT):c.*488G>A rs778739081 0.00003
NM_183050.4(BCKDHB):c.33_34del (p.Leu12fs) rs398124572 0.00003
NM_000709.4(BCKDHA):c.261G>T (p.Gln87His) rs751862507 0.00002
NM_001918.5(DBT):c.*3187C>G rs886044952 0.00002
NM_001918.5(DBT):c.*642T>C rs1055527758 0.00002
NM_001918.5(DBT):c.*8073C>T rs886044941 0.00002
NM_183050.4(BCKDHB):c.*2018A>G rs1049658494 0.00002
NM_183050.4(BCKDHB):c.*2245C>G rs537076572 0.00002
NM_183050.4(BCKDHB):c.*922A>G rs371667903 0.00002
NM_183050.4(BCKDHB):c.732C>T (p.Tyr244=) rs537988425 0.00002
NM_000709.4(BCKDHA):c.*17C>T rs372125840 0.00001
NM_000709.4(BCKDHA):c.*324G>A rs564517344 0.00001
NM_000709.4(BCKDHA):c.*335G>A rs886054463 0.00001
NM_000709.4(BCKDHA):c.435C>T (p.Ala145=) rs369278165 0.00001
NM_000709.4(BCKDHA):c.882G>A (p.Met294Ile) rs1568508232 0.00001
NM_000709.4(BCKDHA):c.925G>A (p.Ala309Thr) rs760651615 0.00001
NM_001918.3(DBT):c.-40T>A rs1314975626 0.00001
NM_001918.5(DBT):c.*1572A>G rs1424615850 0.00001
NM_001918.5(DBT):c.*2119G>A rs928405900 0.00001
NM_001918.5(DBT):c.*2822T>G rs747199821 0.00001
NM_001918.5(DBT):c.*3135G>A rs886044953 0.00001
NM_001918.5(DBT):c.*4425C>A rs1030557885 0.00001
NM_001918.5(DBT):c.*5591T>C rs749879959 0.00001
NM_001918.5(DBT):c.*5638C>T rs886044944 0.00001
NM_001918.5(DBT):c.*6270A>G rs1435365769 0.00001
NM_001918.5(DBT):c.*635C>T rs886044962 0.00001
NM_001918.5(DBT):c.*7187G>A rs886044942 0.00001
NM_001918.5(DBT):c.*7369G>A rs893354618 0.00001
NM_001918.5(DBT):c.*8385A>C rs886044940 0.00001
NM_001918.5(DBT):c.*8830T>C rs1660613432 0.00001
NM_001918.5(DBT):c.1036A>G (p.Ile346Val) rs1302449788 0.00001
NM_001918.5(DBT):c.198G>A (p.Gln66=) rs201714436 0.00001
NM_183050.4(BCKDHB):c.*896A>G rs886061811 0.00001
NM_183050.4(BCKDHB):c.1031C>T (p.Thr344Ile) rs761138547 0.00001
NM_183050.4(BCKDHB):c.245A>G (p.Asp82Gly) rs150769284 0.00001
NM_183050.4(BCKDHB):c.302G>A (p.Gly101Asp) rs398124571 0.00001
NM_183050.4(BCKDHB):c.970C>T (p.Arg324Ter) rs398124603 0.00001
NM_000108.5(DLD):c.267+15del rs886061906
NM_000709.4(BCKDHA):c.*301G>A rs2039411821
NM_000709.4(BCKDHA):c.*365A>G rs886054464
NM_000709.4(BCKDHA):c.114C>G (p.Pro38=) rs11549935
NM_000709.4(BCKDHA):c.114C>T (p.Pro38=) rs11549935
NM_000709.4(BCKDHA):c.143T>C (p.Leu48Pro) rs879103338
NM_000709.4(BCKDHA):c.441C>G (p.Ala147=) rs2039284438
NM_000709.4(BCKDHA):c.648G>T (p.Ala216=) rs114716391
NM_000709.4(BCKDHA):c.842G>T (p.Gly281Val) rs886054461
NM_000709.4(BCKDHA):c.995+8C>T rs886054462
NM_000709.4(BCKDHA):c.995+9C>G rs13343330
NM_001918.5(DBT):c.*1064del rs553113077
NM_001918.5(DBT):c.*1064dup rs553113077
NM_001918.5(DBT):c.*1640C>T rs1660988947
NM_001918.5(DBT):c.*2021C>T rs1660952850
NM_001918.5(DBT):c.*2114T>C rs886044956
NM_001918.5(DBT):c.*2130G>A rs1394399367
NM_001918.5(DBT):c.*2213T>C rs1660939902
NM_001918.5(DBT):c.*2363G>T rs886044955
NM_001918.5(DBT):c.*2542del rs570425342
NM_001918.5(DBT):c.*2619G>A rs541064624
NM_001918.5(DBT):c.*2633AAAT[5] rs773873766
NM_001918.5(DBT):c.*2633AAAT[7] rs773873766
NM_001918.5(DBT):c.*3022G>A rs1660889107
NM_001918.5(DBT):c.*3027A>G rs886044954
NM_001918.5(DBT):c.*3201G>A rs886044951
NM_001918.5(DBT):c.*3240T>A rs1660880039
NM_001918.5(DBT):c.*3693C>G rs1660860600
NM_001918.5(DBT):c.*3859T>C rs1570793211
NM_001918.5(DBT):c.*3869del rs141830881
NM_001918.5(DBT):c.*3995G>T rs988697898
NM_001918.5(DBT):c.*4237A>C rs1660837776
NM_001918.5(DBT):c.*4281del rs886044948
NM_001918.5(DBT):c.*4321G>T rs886044947
NM_001918.5(DBT):c.*4446C>G rs752398323
NM_001918.5(DBT):c.*456C>G rs886044963
NM_001918.5(DBT):c.*4576G>A rs531886164
NM_001918.5(DBT):c.*4576G>C rs531886164
NM_001918.5(DBT):c.*4688G>T rs573460625
NM_001918.5(DBT):c.*5380G>C rs1660776922
NM_001918.5(DBT):c.*5561A>G rs886044945
NM_001918.5(DBT):c.*5959A>G rs567706972
NM_001918.5(DBT):c.*6114_*6115del rs3081711
NM_001918.5(DBT):c.*6413C>T rs1660732127
NM_001918.5(DBT):c.*64A>G rs1661077106
NM_001918.5(DBT):c.*6771A>C rs986607367
NM_001918.5(DBT):c.*6771A>G rs986607367
NM_001918.5(DBT):c.*678TTAA[1] rs886044961
NM_001918.5(DBT):c.*6903del rs71709231
NM_001918.5(DBT):c.*7223C>T rs1660695055
NM_001918.5(DBT):c.*7690T>C rs535852086
NM_001918.5(DBT):c.*7942G>A rs1660663776
NM_001918.5(DBT):c.*8471T>C rs1660634228
NM_001918.5(DBT):c.*8552_*8553insT rs886044939
NM_001918.5(DBT):c.*8554dup rs886044938
NM_001918.5(DBT):c.*8642C>G rs886044937
NM_001918.5(DBT):c.*8900A>T rs886044936
NM_001918.5(DBT):c.*9058C>T rs886044935
NM_001918.5(DBT):c.1210-10dup rs398123658
NM_001918.5(DBT):c.1282-14_1282-10del rs752915898
NM_001918.5(DBT):c.1282-5_1282-1del rs1557939353
NM_001918.5(DBT):c.1364T>C (p.Ile455Thr) rs1570796358
NM_001918.5(DBT):c.1389C>T (p.Phe463=) rs886044964
NM_183050.3(BCKDHB):c.-41C>T rs763746493
NM_183050.4(BCKDHB):c.*1008T>C rs1283478954
NM_183050.4(BCKDHB):c.*1143A>G rs1770126804
NM_183050.4(BCKDHB):c.*1162T>C rs886061812
NM_183050.4(BCKDHB):c.*1239dup rs772846294
NM_183050.4(BCKDHB):c.*1279A>G rs1770137265
NM_183050.4(BCKDHB):c.*1909T>C rs529166544
NM_183050.4(BCKDHB):c.*2224dup rs757446051
NM_183050.4(BCKDHB):c.*263C>A rs533006469
NM_183050.4(BCKDHB):c.*501A>G rs1770079109
NM_183050.4(BCKDHB):c.*540T>C rs201154827
NM_183050.4(BCKDHB):c.*559_*560del rs10579475
NM_183050.4(BCKDHB):c.*559_*560dup rs10579475
NM_183050.4(BCKDHB):c.*560dup rs10579475
NM_183050.4(BCKDHB):c.*777G>C rs954822411
NM_183050.4(BCKDHB):c.1112T>C (p.Phe371Ser) rs750930993
NM_183050.4(BCKDHB):c.51A>C (p.Ala17=) rs376293687
NM_183050.4(BCKDHB):c.51A>G (p.Ala17=) rs376293687
NM_183050.4(BCKDHB):c.595_596del (p.Ser199_Pro200insTer) rs398124587

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