ClinVar Miner

List of variants in gene BCKDHB reported as likely benign for amino acid metabolism disease

Included ClinVar conditions (436):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 293
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HGVS dbSNP gnomAD frequency
NM_183050.4(BCKDHB):c.344-88C>T rs73479950 0.06563
NM_183050.4(BCKDHB):c.*1798C>T rs535334878 0.00251
NM_183050.4(BCKDHB):c.742+16A>G rs140373763 0.00220
NM_183050.4(BCKDHB):c.633G>C (p.Lys211Asn) rs143427811 0.00086
NM_183050.4(BCKDHB):c.86C>T (p.Ala29Val) rs9448884 0.00068
NM_183050.4(BCKDHB):c.*83C>T rs564127416 0.00052
NM_183050.4(BCKDHB):c.411G>A (p.Ala137=) rs142858149 0.00039
NM_183050.4(BCKDHB):c.744G>A (p.Ala248=) rs147719822 0.00026
NM_183050.4(BCKDHB):c.*2072C>T rs183153737 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.1143G>A (p.Lys381=) rs143579400 0.00016
NM_183050.4(BCKDHB):c.168C>T (p.Phe56=) rs747705382 0.00013
NM_183050.4(BCKDHB):c.840+10A>G rs561940940 0.00008
NM_183050.4(BCKDHB):c.197-16T>C rs759961267 0.00005
NM_183050.4(BCKDHB):c.111C>T (p.His37=) rs755592273 0.00004
NM_183050.4(BCKDHB):c.681A>C (p.Ser227=) rs755637620 0.00004
NM_183050.4(BCKDHB):c.840+15T>C rs764829376 0.00004
NM_183050.4(BCKDHB):c.36C>T (p.Leu12=) rs1464497822 0.00002
NM_183050.4(BCKDHB):c.714T>C (p.Phe238=) rs774640066 0.00002
NM_183050.4(BCKDHB):c.732C>T (p.Tyr244=) rs537988425 0.00002
NM_183050.4(BCKDHB):c.789C>T (p.Ala263=) rs145150150 0.00002
NM_183050.4(BCKDHB):c.1039-10C>T rs760262704 0.00001
NM_183050.4(BCKDHB):c.1158T>G (p.Leu386=) rs766392710 0.00001
NM_183050.4(BCKDHB):c.17C>T (p.Ala6Val) rs534975518 0.00001
NM_183050.4(BCKDHB):c.192G>A (p.Glu64=) rs1174539586 0.00001
NM_183050.4(BCKDHB):c.24C>T (p.Ala8=) rs558448066 0.00001
NM_183050.4(BCKDHB):c.258C>T (p.Ala86=) rs756064958 0.00001
NM_183050.4(BCKDHB):c.274+8T>G rs144531503 0.00001
NM_183050.4(BCKDHB):c.344-9T>C rs1479038293 0.00001
NM_183050.4(BCKDHB):c.393A>T (p.Gly131=) rs934559515 0.00001
NM_183050.4(BCKDHB):c.402C>T (p.Ile134=) rs759881863 0.00001
NM_183050.4(BCKDHB):c.43A>C (p.Arg15=) rs781373417 0.00001
NM_183050.4(BCKDHB):c.478-9G>A rs780452994 0.00001
NM_183050.4(BCKDHB):c.48G>T (p.Ala16=) rs998893388 0.00001
NM_183050.4(BCKDHB):c.495C>T (p.Ala165=) rs1174061592 0.00001
NM_183050.4(BCKDHB):c.522T>C (p.Leu174=) rs1191860809 0.00001
NM_183050.4(BCKDHB):c.555T>C (p.Pro185=) rs749123579 0.00001
NM_183050.4(BCKDHB):c.573T>C (p.His191=) rs1280521091 0.00001
NM_183050.4(BCKDHB):c.615C>T (p.Ala205=) rs760033819 0.00001
NM_183050.4(BCKDHB):c.636G>A (p.Val212=) rs968957690 0.00001
NM_183050.4(BCKDHB):c.672T>G (p.Leu224=) rs1488608145 0.00001
NM_183050.4(BCKDHB):c.676T>C (p.Leu226=) rs1772903772 0.00001
NM_183050.4(BCKDHB):c.743-14T>C rs747561308 0.00001
NM_183050.4(BCKDHB):c.841-9T>G rs774698097 0.00001
NM_183050.4(BCKDHB):c.858G>A (p.Glu286=) rs765019762 0.00001
NM_183050.4(BCKDHB):c.861A>G (p.Val287=) rs1358699136 0.00001
NM_183050.4(BCKDHB):c.882G>A (p.Lys294=) rs1354419202 0.00001
NM_183050.4(BCKDHB):c.90G>A (p.Gly30=) rs553058134 0.00001
NM_183050.4(BCKDHB):c.9T>A (p.Val3=) rs1373155112 0.00001
NM_183050.4(BCKDHB):c.*263C>A rs533006469
NM_183050.4(BCKDHB):c.1002A>G (p.Thr334=) rs2127965195
NM_183050.4(BCKDHB):c.1005C>A (p.Gly335=) rs1562193967
NM_183050.4(BCKDHB):c.1014A>G (p.Ala338=) rs904277226
NM_183050.4(BCKDHB):c.1029T>C (p.Ser343=)
NM_183050.4(BCKDHB):c.102C>T (p.Gly34=) rs1294903760
NM_183050.4(BCKDHB):c.1032A>G (p.Thr344=) rs148902222
NM_183050.4(BCKDHB):c.1038+20T>C
NM_183050.4(BCKDHB):c.1038+20T>G
NM_183050.4(BCKDHB):c.1038+8A>T rs1777830129
NM_183050.4(BCKDHB):c.1039-13A>C
NM_183050.4(BCKDHB):c.1039-15T>C
NM_183050.4(BCKDHB):c.1039-17C>A
NM_183050.4(BCKDHB):c.1039-5T>C rs879095937
NM_183050.4(BCKDHB):c.1041G>A (p.Glu347=) rs2128020526
NM_183050.4(BCKDHB):c.1059A>G (p.Leu353=) rs1770035632
NM_183050.4(BCKDHB):c.1062G>A (p.Glu354=)
NM_183050.4(BCKDHB):c.1068T>C (p.Pro356=) rs1582600488
NM_183050.4(BCKDHB):c.1092C>T (p.Asp364=) rs2128020582
NM_183050.4(BCKDHB):c.1095A>G (p.Thr365=) rs2128020590
NM_183050.4(BCKDHB):c.1107C>T (p.His369=) rs1582600540
NM_183050.4(BCKDHB):c.1119A>G (p.Pro373=)
NM_183050.4(BCKDHB):c.1128C>T (p.Ile376=) rs1035866627
NM_183050.4(BCKDHB):c.1137A>G (p.Lys379=)
NM_183050.4(BCKDHB):c.1149T>C (p.Tyr383=)
NM_183050.4(BCKDHB):c.114C>T (p.Pro38=)
NM_183050.4(BCKDHB):c.117C>T (p.Ala39=) rs767901122
NM_183050.4(BCKDHB):c.120G>A (p.Ala40=) rs2127699065
NM_183050.4(BCKDHB):c.120G>T (p.Ala40=) rs2127699065
NM_183050.4(BCKDHB):c.123T>G (p.Thr41=)
NM_183050.4(BCKDHB):c.126C>G (p.Val42=) rs2127699088
NM_183050.4(BCKDHB):c.12A>G (p.Val4=) rs2127698647
NM_183050.4(BCKDHB):c.135G>A (p.Ala45=) rs777673541
NM_183050.4(BCKDHB):c.138C>T (p.Ala46=)
NM_183050.4(BCKDHB):c.141G>A (p.Gln47=)
NM_183050.4(BCKDHB):c.144_145delinsAA (p.Arg48_Arg49=) rs2127699136
NM_183050.4(BCKDHB):c.145C>A (p.Arg49=)
NM_183050.4(BCKDHB):c.15G>A (p.Ala5=) rs772066588
NM_183050.4(BCKDHB):c.15G>C (p.Ala5=) rs772066588
NM_183050.4(BCKDHB):c.165T>G (p.Thr55=) rs2127699201
NM_183050.4(BCKDHB):c.174A>G (p.Pro58=) rs1769093743
NM_183050.4(BCKDHB):c.18G>A (p.Ala6=) rs2127698696
NM_183050.4(BCKDHB):c.18G>C (p.Ala6=) rs2127698696
NM_183050.4(BCKDHB):c.18G>T (p.Ala6=) rs2127698696
NM_183050.4(BCKDHB):c.196+10G>A rs2127699369
NM_183050.4(BCKDHB):c.196+10G>C
NM_183050.4(BCKDHB):c.196+11G>A
NM_183050.4(BCKDHB):c.196+13A>G
NM_183050.4(BCKDHB):c.196+20A>T
NM_183050.4(BCKDHB):c.196+7C>T rs753090498
NM_183050.4(BCKDHB):c.196+8C>G rs1337392511
NM_183050.4(BCKDHB):c.197-11G>A
NM_183050.4(BCKDHB):c.197-15_197-14insA
NM_183050.4(BCKDHB):c.197-5C>T rs1374556799
NM_183050.4(BCKDHB):c.21T>A (p.Ala7=)
NM_183050.4(BCKDHB):c.228T>A (p.Ser76=) rs761814478
NM_183050.4(BCKDHB):c.241T>C (p.Leu81=)
NM_183050.4(BCKDHB):c.24C>A (p.Ala8=) rs558448066
NM_183050.4(BCKDHB):c.24C>G (p.Ala8=) rs558448066
NM_183050.4(BCKDHB):c.253T>C (p.Leu85=) rs780890874
NM_183050.4(BCKDHB):c.25G>A (p.Gly9Ser) rs571728255
NM_183050.4(BCKDHB):c.267T>C (p.Pro89=) rs1582191955
NM_183050.4(BCKDHB):c.267T>G (p.Pro89=)
NM_183050.4(BCKDHB):c.270T>C (p.Thr90=)
NM_183050.4(BCKDHB):c.274+10A>T rs2127726226
NM_183050.4(BCKDHB):c.274+13T>C
NM_183050.4(BCKDHB):c.274+7C>T rs771730316
NM_183050.4(BCKDHB):c.274+8T>C
NM_183050.4(BCKDHB):c.275-10T>C rs2127727828
NM_183050.4(BCKDHB):c.275-12A>C
NM_183050.4(BCKDHB):c.275-16A>C
NM_183050.4(BCKDHB):c.275-17T>C
NM_183050.4(BCKDHB):c.275-20A>C
NM_183050.4(BCKDHB):c.275-20A>G
NM_183050.4(BCKDHB):c.275-5T>C
NM_183050.4(BCKDHB):c.275-8T>G
NM_183050.4(BCKDHB):c.275-9G>A
NM_183050.4(BCKDHB):c.27C>G (p.Gly9=) rs1024423494
NM_183050.4(BCKDHB):c.285T>C (p.Gly95=) rs2127727865
NM_183050.4(BCKDHB):c.312T>C (p.Phe104=) rs745368116
NM_183050.4(BCKDHB):c.315A>G (p.Arg105=) rs1770499965
NM_183050.4(BCKDHB):c.31C>T (p.Leu11=)
NM_183050.4(BCKDHB):c.321T>C (p.Thr107=)
NM_183050.4(BCKDHB):c.331C>A (p.Arg111=) rs371117671
NM_183050.4(BCKDHB):c.333A>G (p.Arg111=) rs1582194998
NM_183050.4(BCKDHB):c.336C>T (p.Asp112=)
NM_183050.4(BCKDHB):c.33A>C (p.Leu11=)
NM_183050.4(BCKDHB):c.33A>G (p.Leu11=)
NM_183050.4(BCKDHB):c.33A>T (p.Leu11=) rs755140913
NM_183050.4(BCKDHB):c.343+16T>C
NM_183050.4(BCKDHB):c.343+17A>G
NM_183050.4(BCKDHB):c.344-19T>C
NM_183050.4(BCKDHB):c.344-4T>G rs2127773306
NM_183050.4(BCKDHB):c.344-7T>C rs1562102564
NM_183050.4(BCKDHB):c.360T>C (p.Phe120=) rs770355362
NM_183050.4(BCKDHB):c.369A>G (p.Pro123=) rs891015474
NM_183050.4(BCKDHB):c.370T>C (p.Leu124=) rs2127773376
NM_183050.4(BCKDHB):c.372G>A (p.Leu124=)
NM_183050.4(BCKDHB):c.378A>G (p.Glu126=) rs770996331
NM_183050.4(BCKDHB):c.39G>A (p.Arg13=)
NM_183050.4(BCKDHB):c.420A>C (p.Gly140=)
NM_183050.4(BCKDHB):c.426T>C (p.Thr142=)
NM_183050.4(BCKDHB):c.426T>G (p.Thr142=)
NM_183050.4(BCKDHB):c.429C>A (p.Ala143=) rs1582272242
NM_183050.4(BCKDHB):c.429C>T (p.Ala143=) rs1582272242
NM_183050.4(BCKDHB):c.42C>T (p.Leu14=) rs2127698794
NM_183050.4(BCKDHB):c.432T>C (p.Ile144=) rs2127773487
NM_183050.4(BCKDHB):c.435G>T (p.Ala145=) rs370267903
NM_183050.4(BCKDHB):c.468A>C (p.Ala156=)
NM_183050.4(BCKDHB):c.468A>G (p.Ala156=)
NM_183050.4(BCKDHB):c.474T>C (p.Asp158=) rs2127773553
NM_183050.4(BCKDHB):c.477+10T>A
NM_183050.4(BCKDHB):c.477+13A>G
NM_183050.4(BCKDHB):c.477+14C>A
NM_183050.4(BCKDHB):c.477+15_477+16insAA
NM_183050.4(BCKDHB):c.477+19C>G
NM_183050.4(BCKDHB):c.477+20T>G
NM_183050.4(BCKDHB):c.477+7G>A rs2127773561
NM_183050.4(BCKDHB):c.478-11C>G
NM_183050.4(BCKDHB):c.478-13_478-10del
NM_183050.4(BCKDHB):c.478-15C>G
NM_183050.4(BCKDHB):c.478-15C>T rs772227275
NM_183050.4(BCKDHB):c.478-16T>G
NM_183050.4(BCKDHB):c.478-17T>C
NM_183050.4(BCKDHB):c.478-19C>G
NM_183050.4(BCKDHB):c.478-4T>G
NM_183050.4(BCKDHB):c.478-6C>T rs879247086
NM_183050.4(BCKDHB):c.483T>C (p.Val161=) rs2127775341
NM_183050.4(BCKDHB):c.48G>A (p.Ala16=)
NM_183050.4(BCKDHB):c.48G>C (p.Ala16=) rs998893388
NM_183050.4(BCKDHB):c.498G>A (p.Lys166=)
NM_183050.4(BCKDHB):c.501T>C (p.Tyr167=)
NM_183050.4(BCKDHB):c.504C>T (p.Arg168=) rs770906360
NM_183050.4(BCKDHB):c.507T>C (p.Tyr169=) rs2127775476
NM_183050.4(BCKDHB):c.510C>T (p.Arg170=)
NM_183050.4(BCKDHB):c.516G>A (p.Gly172=) rs2127775531
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.525T>C (p.Phe175=) rs2127775566
NM_183050.4(BCKDHB):c.534A>G (p.Gly178=) rs1582275612
NM_183050.4(BCKDHB):c.537C>T (p.Ser179=) rs1260482947
NM_183050.4(BCKDHB):c.540C>T (p.Leu180=)
NM_183050.4(BCKDHB):c.546C>T (p.Ile182=)
NM_183050.4(BCKDHB):c.549G>C (p.Arg183=)
NM_183050.4(BCKDHB):c.549G>T (p.Arg183=)
NM_183050.4(BCKDHB):c.552C>T (p.Ser184=)
NM_183050.4(BCKDHB):c.555T>A (p.Pro185=) rs749123579
NM_183050.4(BCKDHB):c.561C>T (p.Gly187=)
NM_183050.4(BCKDHB):c.576G>A (p.Gly192=) rs2127775867
NM_183050.4(BCKDHB):c.582C>G (p.Leu194=) rs1772747208
NM_183050.4(BCKDHB):c.591T>A (p.Ser197=)
NM_183050.4(BCKDHB):c.600T>G (p.Pro200=) rs1031182895
NM_183050.4(BCKDHB):c.633+14T>C
NM_183050.4(BCKDHB):c.633+15G>A
NM_183050.4(BCKDHB):c.634-10G>A rs2127779093
NM_183050.4(BCKDHB):c.634-12C>A
NM_183050.4(BCKDHB):c.634-13T>C
NM_183050.4(BCKDHB):c.634-16A>C
NM_183050.4(BCKDHB):c.634-20A>T
NM_183050.4(BCKDHB):c.634-4G>C
NM_183050.4(BCKDHB):c.634-6T>C rs1332095038
NM_183050.4(BCKDHB):c.63G>C (p.Gly21=) rs368345065
NM_183050.4(BCKDHB):c.645C>T (p.Pro215=)
NM_183050.4(BCKDHB):c.651C>T (p.Ser217=) rs1220450249
NM_183050.4(BCKDHB):c.657C>T (p.Phe219=) rs2127779150
NM_183050.4(BCKDHB):c.678G>A (p.Leu226=) rs2127779199
NM_183050.4(BCKDHB):c.681A>G (p.Ser227=)
NM_183050.4(BCKDHB):c.699T>C (p.Asn233=)
NM_183050.4(BCKDHB):c.6G>A (p.Ala2=) rs2127698622
NM_183050.4(BCKDHB):c.6G>T (p.Ala2=) rs2127698622
NM_183050.4(BCKDHB):c.702T>C (p.Pro234=)
NM_183050.4(BCKDHB):c.702T>G (p.Pro234=)
NM_183050.4(BCKDHB):c.705T>C (p.Cys235=)
NM_183050.4(BCKDHB):c.708A>C (p.Ile236=)
NM_183050.4(BCKDHB):c.72T>G (p.Arg24=) rs2127698878
NM_183050.4(BCKDHB):c.742+12C>A
NM_183050.4(BCKDHB):c.742+17T>G
NM_183050.4(BCKDHB):c.742+18T>G
NM_183050.4(BCKDHB):c.742+8T>C
NM_183050.4(BCKDHB):c.742+9T>G rs2127779389
NM_183050.4(BCKDHB):c.743-12T>C
NM_183050.4(BCKDHB):c.743-15C>G
NM_183050.4(BCKDHB):c.743-15C>T
NM_183050.4(BCKDHB):c.743-15del rs749321740
NM_183050.4(BCKDHB):c.743-17T>A
NM_183050.4(BCKDHB):c.743-18T>C
NM_183050.4(BCKDHB):c.743-19T>A
NM_183050.4(BCKDHB):c.743-19T>C
NM_183050.4(BCKDHB):c.743-20T>C
NM_183050.4(BCKDHB):c.743-6A>G rs759281718
NM_183050.4(BCKDHB):c.743-8G>A rs765391530
NM_183050.4(BCKDHB):c.743-8G>C rs765391530
NM_183050.4(BCKDHB):c.743-9T>G
NM_183050.4(BCKDHB):c.747A>G (p.Glu249=) rs764125560
NM_183050.4(BCKDHB):c.753C>A (p.Val251=) rs1582341919
NM_183050.4(BCKDHB):c.756T>C (p.Pro252=)
NM_183050.4(BCKDHB):c.765A>T (p.Pro255=) rs2127823220
NM_183050.4(BCKDHB):c.768C>T (p.Tyr256=) rs781723847
NM_183050.4(BCKDHB):c.771C>T (p.Asn257=) rs2127823243
NM_183050.4(BCKDHB):c.774C>T (p.Ile258=) rs2127823256
NM_183050.4(BCKDHB):c.777A>G (p.Pro259=)
NM_183050.4(BCKDHB):c.778C>T (p.Leu260=) rs2127823271
NM_183050.4(BCKDHB):c.780G>A (p.Leu260=)
NM_183050.4(BCKDHB):c.780G>C (p.Leu260=)
NM_183050.4(BCKDHB):c.804A>G (p.Glu268=) rs769220378
NM_183050.4(BCKDHB):c.813T>C (p.Asp271=)
NM_183050.4(BCKDHB):c.81T>C (p.Pro27=)
NM_183050.4(BCKDHB):c.828C>T (p.Ala276=)
NM_183050.4(BCKDHB):c.834C>T (p.Gly278=)
NM_183050.4(BCKDHB):c.840+12T>G
NM_183050.4(BCKDHB):c.840+15dup
NM_183050.4(BCKDHB):c.840+20A>G
NM_183050.4(BCKDHB):c.840+8G>A
NM_183050.4(BCKDHB):c.84C>A (p.Gly28=)
NM_183050.4(BCKDHB):c.84C>G (p.Gly28=) rs776261412
NM_183050.4(BCKDHB):c.861A>C (p.Val287=) rs1358699136
NM_183050.4(BCKDHB):c.861A>T (p.Val287=) rs1358699136
NM_183050.4(BCKDHB):c.900A>G (p.Glu300=) rs2127826950
NM_183050.4(BCKDHB):c.903C>T (p.Val301=)
NM_183050.4(BCKDHB):c.915G>A (p.Arg305=)
NM_183050.4(BCKDHB):c.939C>T (p.Asp313=) rs2127827076
NM_183050.4(BCKDHB):c.951+10T>C
NM_183050.4(BCKDHB):c.951+11A>C
NM_183050.4(BCKDHB):c.951+27209A>G rs207467187
NM_183050.4(BCKDHB):c.951+7A>C rs2127827133
NM_183050.4(BCKDHB):c.951+8T>A rs749433792
NM_183050.4(BCKDHB):c.951+9A>C rs374054207
NM_183050.4(BCKDHB):c.951+9A>G rs374054207
NM_183050.4(BCKDHB):c.952-13T>C
NM_183050.4(BCKDHB):c.952-14C>G rs1777820973
NM_183050.4(BCKDHB):c.952-14C>T
NM_183050.4(BCKDHB):c.952-16_952-15del rs890103324
NM_183050.4(BCKDHB):c.952-5T>G
NM_183050.4(BCKDHB):c.969G>A (p.Gly323=)
NM_183050.4(BCKDHB):c.969G>C (p.Gly323=) rs764707388
NM_183050.4(BCKDHB):c.96G>A (p.Ala32=) rs1769084493
NM_183050.4(BCKDHB):c.96G>C (p.Ala32=)
NM_183050.4(BCKDHB):c.970C>A (p.Arg324=)
NM_183050.4(BCKDHB):c.975G>T (p.Leu325=)
NM_183050.4(BCKDHB):c.976C>T (p.Leu326=) rs2127965109
NM_183050.4(BCKDHB):c.996C>G (p.Pro332=)
NM_183050.4(BCKDHB):c.996C>T (p.Pro332=)
NM_183050.4(BCKDHB):c.99G>A (p.Arg33=)

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