ClinVar Miner

List of variants in gene DBT reported as uncertain significance for Maple syrup urine disease

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 219
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HGVS dbSNP gnomAD frequency
NM_001918.5(DBT):c.*6902T>A rs200943386 0.79813
NM_001918.5(DBT):c.*6901T>A rs200062717 0.00778
NM_001918.5(DBT):c.*3652G>C rs755229964 0.00400
NM_001918.5(DBT):c.*4124C>A rs139169068 0.00327
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.*3461A>G rs532058526 0.00125
NM_001918.5(DBT):c.*8083C>T rs190798710 0.00103
NM_001918.5(DBT):c.*8663T>C rs576300118 0.00103
NM_001918.5(DBT):c.*1917C>A rs886044957 0.00096
NM_001918.5(DBT):c.*2074A>C rs536515775 0.00092
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.*9105A>G rs574151688 0.00047
NM_001918.5(DBT):c.*1332T>C rs191584096 0.00044
NM_001918.5(DBT):c.*4291C>A rs1256627350 0.00032
NM_001918.5(DBT):c.*9123A>G rs79752201 0.00029
NM_001918.5(DBT):c.*1322C>T rs941752024 0.00026
NM_001918.5(DBT):c.*347C>T rs372982170 0.00026
NM_001918.5(DBT):c.*4507T>C rs762813875 0.00025
NM_001918.5(DBT):c.*5877G>C rs562874757 0.00024
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_001918.5(DBT):c.*9153_*9156del rs780877675 0.00017
NM_001918.5(DBT):c.*295G>A rs556913110 0.00015
NM_001918.5(DBT):c.*918G>T rs555064255 0.00015
NM_001918.5(DBT):c.*8275A>G rs189649370 0.00014
NM_001918.5(DBT):c.*4377C>G rs886044946 0.00012
NM_001918.5(DBT):c.*722C>T rs886044960 0.00012
NM_001918.5(DBT):c.*2088A>T rs771850946 0.00011
NM_001918.5(DBT):c.*2851C>T rs1023974357 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_001918.5(DBT):c.*3245G>A rs1266134285 0.00008
NM_001918.5(DBT):c.*8074G>A rs550751216 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_001918.5(DBT):c.1281+5A>G rs199571242 0.00006
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_001918.5(DBT):c.572T>G (p.Val191Gly) rs146894954 0.00005
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_001918.5(DBT):c.1018-550A>G rs796052135 0.00004
NM_001918.5(DBT):c.*2271A>C rs768839953 0.00003
NM_001918.5(DBT):c.*488G>A rs778739081 0.00003
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_001918.5(DBT):c.34A>G (p.Arg12Gly) rs1215222732 0.00002
NM_001918.5(DBT):c.401C>T (p.Pro134Leu) rs1131691488 0.00002
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.*358A>C rs1553228540 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.1017G>A (p.Lys339=) rs1490661508 0.00001
NM_001918.5(DBT):c.1036A>G (p.Ile346Val) rs1302449788 0.00001
NM_001918.5(DBT):c.1171C>T (p.Leu391Phe) rs1339599491 0.00001
NM_001918.5(DBT):c.1202T>C (p.Ile401Thr) rs1449113689 0.00001
NM_001918.5(DBT):c.1217G>T (p.Gly406Val) rs767154711 0.00001
NM_001918.5(DBT):c.1261G>T (p.Gly421Trp) rs796051945 0.00001
NM_001918.5(DBT):c.1385G>A (p.Arg462His) rs750594890 0.00001
NM_001918.5(DBT):c.1400G>A (p.Trp467Ter) rs767760099 0.00001
NM_001918.5(DBT):c.198G>A (p.Gln66=) rs201714436 0.00001
NM_001918.5(DBT):c.365A>G (p.Tyr122Cys) rs727503896 0.00001
NM_001918.5(DBT):c.5C>T (p.Ala2Val) rs398123672 0.00001
NM_001918.5(DBT):c.61C>T (p.Arg21Cys) rs398123673 0.00001
NM_001918.5(DBT):c.673A>C (p.Ile225Leu) rs1472099889 0.00001
NM_001918.5(DBT):c.781A>G (p.Lys261Glu) rs926492799 0.00001
NM_001918.5(DBT):c.815A>G (p.Lys272Arg) rs1662393960 0.00001
NM_001918.5(DBT):c.836G>T (p.Cys279Phe) rs1662392597 0.00001
NM_001918.5(DBT):c.884A>G (p.Lys295Arg) rs139216072 0.00001
NM_001918.5(DBT):c.902G>A (p.Arg301His) rs770981889 0.00001
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.*2633AAAT[5] 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.*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.1002G>T (p.Gln334His)
NM_001918.5(DBT):c.1061T>C (p.Leu354Ser) rs1296308942
NM_001918.5(DBT):c.1126C>T (p.Arg376Cys) rs768389398
NM_001918.5(DBT):c.1170T>G (p.Asp390Glu) rs1661798658
NM_001918.5(DBT):c.1195T>G (p.Ser399Ala) rs1553229654
NM_001918.5(DBT):c.1210-10dup rs398123658
NM_001918.5(DBT):c.1210-3T>A
NM_001918.5(DBT):c.1212T>G (p.Ile404Met) rs2100779467
NM_001918.5(DBT):c.1219A>G (p.Thr407Ala)
NM_001918.5(DBT):c.1230A>C (p.Lys410Asn)
NM_001918.5(DBT):c.1251A>G (p.Glu417=)
NM_001918.5(DBT):c.1264G>A (p.Ala422Thr)
NM_001918.5(DBT):c.1276A>G (p.Ile426Val) rs1471693880
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.1283C>T (p.Ala428Val) rs2100761237
NM_001918.5(DBT):c.1309G>A (p.Glu437Lys) rs772490888
NM_001918.5(DBT):c.1343G>A (p.Trp448Ter) rs749366506
NM_001918.5(DBT):c.1348G>A (p.Ala450Thr) rs398123661
NM_001918.5(DBT):c.1364T>C (p.Ile455Thr) rs1570796358
NM_001918.5(DBT):c.1372G>T (p.Ala458Ser)
NM_001918.5(DBT):c.1375A>G (p.Thr459Ala)
NM_001918.5(DBT):c.1382C>A (p.Ser461Ter) rs1553228626
NM_001918.5(DBT):c.1389C>T (p.Phe463=) rs886044964
NM_001918.5(DBT):c.1394A>G (p.Asn465Ser)
NM_001918.5(DBT):c.1420C>A (p.Pro474Thr)
NM_001918.5(DBT):c.14G>A (p.Arg5His)
NM_001918.5(DBT):c.165AAC[1] (p.Thr57del) rs771945254
NM_001918.5(DBT):c.16A>G (p.Met6Val)
NM_001918.5(DBT):c.181C>T (p.Arg61Cys)
NM_001918.5(DBT):c.182G>A (p.Arg61His)
NM_001918.5(DBT):c.215T>C (p.Ile72Thr) rs565879664
NM_001918.5(DBT):c.230G>A (p.Arg77Lys)
NM_001918.5(DBT):c.260AAG[1] (p.Glu88del) rs1217050849
NM_001918.5(DBT):c.292A>G (p.Ile98Val)
NM_001918.5(DBT):c.296G>A (p.Cys99Tyr) rs1557956678
NM_001918.5(DBT):c.367_372del (p.Tyr123_Asn124del) rs1557956585
NM_001918.5(DBT):c.36G>C (p.Arg12Ser)
NM_001918.5(DBT):c.391G>A (p.Val131Met) rs1663510723
NM_001918.5(DBT):c.398A>T (p.Lys133Met)
NM_001918.5(DBT):c.433+6G>A
NM_001918.5(DBT):c.433+8A>G
NM_001918.5(DBT):c.438AGA[2] (p.Glu148del) rs761922057
NM_001918.5(DBT):c.449TTG[1] (p.Val151del) rs773087765
NM_001918.5(DBT):c.451G>A (p.Val151Ile) rs1282153768
NM_001918.5(DBT):c.45G>T (p.Gly15=)
NM_001918.5(DBT):c.475G>A (p.Asp159Asn)
NM_001918.5(DBT):c.479A>C (p.Glu160Ala)
NM_001918.5(DBT):c.4G>A (p.Ala2Thr) rs760664814
NM_001918.5(DBT):c.500A>C (p.Lys167Thr)
NM_001918.5(DBT):c.51+1G>C
NM_001918.5(DBT):c.512C>T (p.Thr171Ile)
NM_001918.5(DBT):c.533G>A (p.Arg178His)
NM_001918.5(DBT):c.538C>G (p.Leu180Val) rs2100804291
NM_001918.5(DBT):c.577G>A (p.Gly193Ser) rs398123671
NM_001918.5(DBT):c.595A>G (p.Arg199Gly) rs2100799976
NM_001918.5(DBT):c.667G>A (p.Val223Ile)
NM_001918.5(DBT):c.668T>G (p.Val223Gly) rs772801811
NM_001918.5(DBT):c.676A>G (p.Met226Val)
NM_001918.5(DBT):c.709G>C (p.Val237Leu) rs947272551
NM_001918.5(DBT):c.715A>C (p.Ile239Leu)
NM_001918.5(DBT):c.787A>G (p.Met263Val) rs753685282
NM_001918.5(DBT):c.788T>C (p.Met263Thr) rs1553230703
NM_001918.5(DBT):c.82_84dup (p.Asn28dup) rs746916491
NM_001918.5(DBT):c.853A>C (p.Thr285Pro) rs1662391542
NM_001918.5(DBT):c.86T>C (p.Val29Ala) rs1473273369
NM_001918.5(DBT):c.872G>T (p.Arg291Leu) rs775808731
NM_001918.5(DBT):c.883A>C (p.Lys295Gln) rs1158505606
NM_001918.5(DBT):c.899C>T (p.Ala300Val)
NM_001918.5(DBT):c.913C>T (p.Leu305Phe)
NM_001918.5(DBT):c.932T>C (p.Phe311Ser) rs1662388035
NM_001918.5(DBT):c.940G>T (p.Ala314Ser)
NM_001918.5(DBT):c.962A>T (p.Gln321Leu) rs758048048
NM_001918.5(DBT):c.963G>C (p.Gln321His)
NM_001918.5(DBT):c.967_975dup (p.Pro323_Leu325dup) rs1557946237
NM_001918.5(DBT):c.979G>A (p.Ala327Thr)
NM_001918.5(DBT):c.991G>A (p.Glu331Lys) rs2100788336
NM_001918.5(DBT):c.995A>G (p.Asn332Ser)

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