ClinVar Miner

List of variants reported as benign for Maple syrup urine disease

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ClinVar version:
Total variants: 139
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HGVS dbSNP gnomAD frequency
NM_183050.4(BCKDHB):c.*395G>T rs4706116 0.95752
NM_001918.5(DBT):c.1150A>G (p.Ser384Gly) rs12021720 0.87100
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.853+61T>C rs284651 0.66684
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_000709.4(BCKDHA):c.995+90C>T rs284655 0.66401
NM_002291.3(LAMB1):c.5225-7C>T rs3213673 0.64814
NM_000709.4(BCKDHA):c.995+49G>A rs284654 0.63462
NM_183050.4(BCKDHB):c.841-73C>T rs3828753 0.60052
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_183050.4(BCKDHB):c.952-151G>A rs9341811 0.37802
NM_000709.4(BCKDHA):c.995+26C>T rs284653 0.37723
NM_183050.4(BCKDHB):c.197-25A>G rs9448893 0.35785
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.1150= (p.Ser384=) rs12021720 0.12900
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_183050.4(BCKDHB):c.344-24C>T rs73479953 0.06567
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.1281+31T>G rs115696850 0.03046
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.*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.*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_000709.4(BCKDHA):c.*125C>T rs140867211 0.00851
NM_000709.4(BCKDHA):c.452C>T (p.Thr151Met) rs34442879 0.00790
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_183050.4(BCKDHB):c.122C>T (p.Thr41Ile) rs35470366 0.00394
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.76T>C (p.Cys26Arg) rs145674833 0.00302
NM_000709.4(BCKDHA):c.484+5G>A rs149899007 0.00298
NM_000709.4(BCKDHA):c.996-18C>T rs201511678 0.00271
NM_183050.4(BCKDHB):c.742+16A>G rs140373763 0.00220
NM_183050.4(BCKDHB):c.447T>C (p.Phe149=) rs35969420 0.00185
NM_183050.4(BCKDHB):c.477+14C>T rs112504381 0.00185
NM_183050.4(BCKDHB):c.742+7A>T rs111903796 0.00185
NM_001918.5(DBT):c.753C>T (p.Asp251=) rs79292123 0.00179
NM_001918.5(DBT):c.175+37G>A rs76902654 0.00154
NM_001918.5(DBT):c.*594A>G rs147781191 0.00150
NM_000709.4(BCKDHA):c.15C>T (p.Ile5=) rs17173144 0.00103
NM_000709.4(BCKDHA):c.840C>T (p.Arg280=) rs61737367 0.00101
NM_183050.4(BCKDHB):c.633+16T>C rs373772596 0.00089
NM_000709.4(BCKDHA):c.376-4C>T rs199725420 0.00084
NM_001918.5(DBT):c.*4506A>G rs112901689 0.00064
NM_001918.5(DBT):c.1210-11T>A rs751951997 0.00049
NM_000709.4(BCKDHA):c.646+13G>A rs201333801 0.00038
NM_001918.5(DBT):c.37A>G (p.Asn13Asp) rs140308307 0.00024
NM_001918.5(DBT):c.1210-8A>T rs535837017 0.00023
NM_001918.5(DBT):c.1210-9_1210-8insT rs201755806 0.00020
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_000709.4(BCKDHA):c.1211A>G (p.Asn404Ser) rs148090804 0.00016
NM_001918.5(DBT):c.747C>A (p.Gly249=) rs200612682 0.00013
NM_183050.4(BCKDHB):c.*763G>A rs563470467 0.00008
NM_000709.4(BCKDHA):c.288+10G>A rs376894084 0.00007
NM_183050.4(BCKDHB):c.197-11del rs200609312 0.00006
NM_000709.4(BCKDHA):c.*68G>A rs375492462 0.00004
NM_001918.5(DBT):c.1210-10_1210-9del rs794726986 0.00004
NM_000709.4(BCKDHA):c.*17C>T rs372125840 0.00001
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.1167+13del rs2122146856
NM_000709.4(BCKDHA):c.1167+17C>G rs550593850
NM_000709.4(BCKDHA):c.376-3dup rs2123259752
NM_000709.4(BCKDHA):c.648G>T (p.Ala216=) rs114716391
NM_000709.4(BCKDHA):c.995+18del
NM_000709.4(BCKDHA):c.995+18dup
NM_000709.4(BCKDHA):c.996-33dup rs3217385
NM_001918.5(DBT):c.1018-10dup rs1287581664
NM_001918.5(DBT):c.1018-3del rs2100780335
NM_001918.5(DBT):c.1210-10del rs398123658
NM_001918.5(DBT):c.1210-10dup rs398123658
NM_001918.5(DBT):c.1210-11_1210-10inv
NM_001918.5(DBT):c.1210-4del rs201117345
NM_001918.5(DBT):c.1210-4dup rs201117345
NM_001918.5(DBT):c.1282-14_1282-9del rs760164623
NM_001918.5(DBT):c.1282-18_1282-10del rs752915898
NM_001918.5(DBT):c.1282-19_1282-10del rs752915898
NM_001918.5(DBT):c.1282-24_1282-10dup rs752915898
NM_001918.5(DBT):c.251+19dup rs201469612
NM_001918.5(DBT):c.556-3dup
NM_183050.4(BCKDHB):c.*559_*560del rs10579475
NM_183050.4(BCKDHB):c.275-4del
NM_183050.4(BCKDHB):c.344-4dup
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.634-14del
NM_183050.4(BCKDHB):c.634-5del rs1467662033
NM_183050.4(BCKDHB):c.951+48C>T rs3749896

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