ClinVar Miner

List of variants in gene BCKDHB reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 78
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HGVS dbSNP gnomAD frequency
NM_183050.4(BCKDHB):c.*2271G>A rs15062 0.78187
NM_183050.4(BCKDHB):c.1039-274G>A rs2322762 0.78177
NM_183050.4(BCKDHB):c.*2282C>T rs10864 0.78176
NM_183050.4(BCKDHB):c.*304G>A rs926731 0.78168
NM_183050.4(BCKDHB):c.*293T>C rs926732 0.78149
NM_183050.4(BCKDHB):c.*121G>A rs926733 0.77743
NM_183050.4(BCKDHB):c.1039-164G>T rs2322763 0.77743
NM_183050.4(BCKDHB):c.197-206A>G rs2505930 0.68825
NM_183050.4(BCKDHB):c.841-73C>T rs3828753 0.60052
NC_000006.12:g.80106579T>C rs2298307 0.48583
NM_183050.4(BCKDHB):c.197-11G>T rs9448894 0.42545
NM_183050.4(BCKDHB):c.952-151G>A rs9341811 0.37802
NM_183050.4(BCKDHB):c.196+142T>C rs35447745 0.35819
NM_183050.4(BCKDHB):c.197-25A>G rs9448893 0.35785
NM_183050.4(BCKDHB):c.742+182C>G rs9343970 0.35387
NM_183050.4(BCKDHB):c.951+287A>G rs9343973 0.35366
NM_183050.4(BCKDHB):c.1038+274T>A rs660888 0.30166
NM_183050.4(BCKDHB):c.743-80G>A rs9688535 0.08208
NM_183050.4(BCKDHB):c.841-234G>A rs67597629 0.08185
NC_000006.12:g.80106428G>A rs3812148 0.06572
NM_183050.4(BCKDHB):c.344-24C>T rs73479953 0.06567
NM_183050.4(BCKDHB):c.344-88C>T rs73479950 0.06563
NM_183050.4(BCKDHB):c.343+196A>G rs6936226 0.06214
NM_183050.4(BCKDHB):c.*236G>A rs145101575 0.04280
NM_183050.4(BCKDHB):c.343+101G>A rs2505931 0.03934
NM_183050.4(BCKDHB):c.841-306C>T rs73748704 0.03861
NM_183050.4(BCKDHB):c.742+239A>G rs4424040 0.03052
NM_183050.4(BCKDHB):c.1039-264G>A rs73751605 0.01802
NM_183050.4(BCKDHB):c.633+57T>C rs75398868 0.01577
NM_183050.4(BCKDHB):c.197-46del rs147650695 0.01362
NM_183050.4(BCKDHB):c.742+194T>C rs7772330 0.01019
NM_183050.4(BCKDHB):c.951+62A>T rs61698752 0.00569
NM_183050.4(BCKDHB):c.1038+27A>C rs73463529 0.00532
NM_183050.4(BCKDHB):c.344-102A>G rs182274912 0.00532
NM_183050.4(BCKDHB):c.122C>T (p.Thr41Ile) rs35470366 0.00394
NM_183050.4(BCKDHB):c.1038+100T>C rs150651504 0.00389
NM_000056.4(BCKDHB):c.-71C>T rs113448714 0.00361
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.832G>A (p.Gly278Ser) rs386834233 0.00061
NM_183050.4(BCKDHB):c.*2186A>G rs938094875 0.00036
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.509G>A (p.Arg170His) rs371518124 0.00006
NM_183050.4(BCKDHB):c.1168A>G (p.Ile390Val) rs753690047 0.00005
NM_183050.4(BCKDHB):c.17C>T (p.Ala6Val) rs534975518 0.00001
NM_183050.4(BCKDHB):c.305G>C (p.Gly102Ala) rs987877790 0.00001
NM_183050.4(BCKDHB):c.393A>T (p.Gly131=) rs934559515 0.00001
NM_183050.4(BCKDHB):c.672T>G (p.Leu224=) rs1488608145 0.00001
NM_183050.4(BCKDHB):c.*198GTT[4] rs60689072
NM_183050.4(BCKDHB):c.1014A>G (p.Ala338=) rs904277226
NM_183050.4(BCKDHB):c.1022T>A (p.Ile341Asn) rs796051939
NM_183050.4(BCKDHB):c.1068T>C (p.Pro356=) rs1582600488
NM_183050.4(BCKDHB):c.196+8C>G rs1337392511
NM_183050.4(BCKDHB):c.197-12dup rs201800966
NM_183050.4(BCKDHB):c.275-288TG[15] rs60116640
NM_183050.4(BCKDHB):c.275-288TG[16] rs60116640
NM_183050.4(BCKDHB):c.275-288TG[17] rs60116640
NM_183050.4(BCKDHB):c.275-288TG[19] rs60116640
NM_183050.4(BCKDHB):c.275-2A>G rs1554184224
NM_183050.4(BCKDHB):c.403G>A (p.Gly135Arg) rs751953459
NM_183050.4(BCKDHB):c.477+70C>T rs73750071
NM_183050.4(BCKDHB):c.478-15C>T rs772227275
NM_183050.4(BCKDHB):c.478-63C>A rs115532215
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.547C>T (p.Arg183Trp) rs149766077
NM_183050.4(BCKDHB):c.560G>A (p.Gly187Asp) rs1131691399
NM_183050.4(BCKDHB):c.637G>T (p.Val213Phe) rs994415333
NM_183050.4(BCKDHB):c.743-17del rs374325532
NM_183050.4(BCKDHB):c.776del (p.Pro259fs) rs1064796892
NM_183050.4(BCKDHB):c.840+156T>G rs77952351
NM_183050.4(BCKDHB):c.840+1G>T rs760538465
NM_183050.4(BCKDHB):c.951+48C>T rs3749896
NM_183050.4(BCKDHB):c.995C>T (p.Pro332Leu) rs1554205541

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