ClinVar Miner

List of variants in gene BCKDHB reported as benign for Maple syrup urine disease

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Gene type:
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Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_183050.4(BCKDHB):c.*395G>T rs4706116 0.95752
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_183050.4(BCKDHB):c.*345C>T rs1811844 0.66759
NM_183050.4(BCKDHB):c.841-73C>T rs3828753 0.60052
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_183050.4(BCKDHB):c.197-25A>G rs9448893 0.35785
NM_183050.4(BCKDHB):c.*832C>T rs60566469 0.06661
NM_183050.4(BCKDHB):c.344-24C>T rs73479953 0.06567
NM_183050.4(BCKDHB):c.*236G>A rs145101575 0.04280
NM_183050.4(BCKDHB):c.*1158T>G rs74705661 0.01826
NM_183050.4(BCKDHB):c.*726A>G rs147544283 0.01811
NM_183050.4(BCKDHB):c.*440A>T rs113404985 0.01152
NM_183050.4(BCKDHB):c.122C>T (p.Thr41Ile) rs35470366 0.00394
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_183050.4(BCKDHB):c.633+16T>C rs373772596 0.00089
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_183050.4(BCKDHB):c.*763G>A rs563470467 0.00008
NM_183050.4(BCKDHB):c.197-11del rs200609312 0.00006
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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