ClinVar Miner

List of variants in gene BCKDHB reported by Illumina Laboratory Services, Illumina

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Gene type:
ClinVar version:
Total variants: 74
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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.197-11G>T rs9448894 0.42545
NM_183050.4(BCKDHB):c.*731C>T rs4706117 0.39858
NM_183050.4(BCKDHB):c.*832C>T rs60566469 0.06661
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.*2212T>C rs191556844 0.00257
NM_183050.4(BCKDHB):c.*1798C>T rs535334878 0.00251
NM_183050.4(BCKDHB):c.*1603G>A rs143744799 0.00057
NM_183050.4(BCKDHB):c.*1554C>G rs563993638 0.00054
NM_183050.4(BCKDHB):c.*83C>T rs564127416 0.00052
NM_183050.4(BCKDHB):c.*1010A>G rs536048070 0.00044
NM_183050.4(BCKDHB):c.744G>A (p.Ala248=) rs147719822 0.00026
NM_183050.4(BCKDHB):c.*574A>G rs527284649 0.00023
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_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.548G>C (p.Arg183Pro) rs79761867 0.00010
NM_183050.4(BCKDHB):c.*466G>T rs886061809 0.00009
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_183050.4(BCKDHB):c.*2224T>A rs1037438345 0.00007
NM_183050.4(BCKDHB):c.*1908A>G rs368380717 0.00006
NM_183050.4(BCKDHB):c.33_34del (p.Leu12fs) rs398124572 0.00003
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_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_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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