ClinVar Miner

List of variants in gene BCKDHB reported as likely pathogenic for inborn disorder of amino acid metabolism

Included ClinVar conditions (416):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 145
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HGVS dbSNP gnomAD frequency
NM_183050.4(BCKDHB):c.832G>A (p.Gly278Ser) rs386834233 0.00061
NM_183050.4(BCKDHB):c.853C>T (p.Arg285Ter) rs398124598 0.00015
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.502C>T (p.Arg168Cys) rs398124579 0.00004
NM_183050.4(BCKDHB):c.33_34del (p.Leu12fs) rs398124572 0.00003
NM_183050.4(BCKDHB):c.1016C>T (p.Ser339Leu) rs398124561 0.00002
NM_183050.4(BCKDHB):c.528C>G (p.Asn176Lys) rs763645251 0.00002
NM_183050.4(BCKDHB):c.1023del (p.Ser342fs) rs776270090 0.00001
NM_183050.4(BCKDHB):c.1038+2T>C rs762419044 0.00001
NM_183050.4(BCKDHB):c.1145G>A (p.Cys382Tyr) rs1202365275 0.00001
NM_183050.4(BCKDHB):c.1159C>T (p.Arg387Ter) rs751599203 0.00001
NM_183050.4(BCKDHB):c.181G>T (p.Glu61Ter) rs774916970 0.00001
NM_183050.4(BCKDHB):c.1A>T (p.Met1Leu) rs1005542482 0.00001
NM_183050.4(BCKDHB):c.302G>A (p.Gly101Asp) rs398124571 0.00001
NM_183050.4(BCKDHB):c.410C>T (p.Ala137Val) rs776631396 0.00001
NM_183050.4(BCKDHB):c.506A>G (p.Tyr169Cys) rs398124580 0.00001
NM_183050.4(BCKDHB):c.508C>G (p.Arg170Gly) rs398124581 0.00001
NM_183050.4(BCKDHB):c.526A>T (p.Asn176Tyr) rs398124582 0.00001
NM_183050.4(BCKDHB):c.752T>C (p.Val251Ala) rs398124593 0.00001
NM_183050.4(BCKDHB):c.799C>T (p.Gln267Ter) rs398124594 0.00001
NM_183050.4(BCKDHB):c.79_89del (p.Pro27fs) rs1057516795 0.00001
NM_183050.4(BCKDHB):c.970C>T (p.Arg324Ter) rs398124603 0.00001
NC_000006.11:g.(80881108_80910650)_(80982939_81053380)dup
NC_000006.11:g.(?_80910641)_(80982948_?)dup
NC_000006.12:g.(?_80273125)_(80273231_?)del
NM_183050.4(BCKDHB):c.-22_4del (p.Met1fs) rs1582146275
NM_183050.4(BCKDHB):c.1006G>A (p.Gly336Ser) rs398124560
NM_183050.4(BCKDHB):c.1007dup (p.Phe337fs)
NM_183050.4(BCKDHB):c.101del (p.Gly34fs)
NM_183050.4(BCKDHB):c.1022T>A (p.Ile341Asn) rs796051939
NM_183050.4(BCKDHB):c.1037A>G (p.Gln346Arg) rs2127965290
NM_183050.4(BCKDHB):c.1039-2A>G rs2128020522
NM_183050.4(BCKDHB):c.1039-7_1039-4del rs1562242135
NM_183050.4(BCKDHB):c.1046G>A (p.Cys349Tyr) rs398124562
NM_183050.4(BCKDHB):c.107dup (p.Leu36fs) rs1769085821
NM_183050.4(BCKDHB):c.1090G>A (p.Asp364Asn) rs1060499715
NM_183050.4(BCKDHB):c.1095_1096del (p.Pro366fs)
NM_183050.4(BCKDHB):c.1114G>T (p.Glu372Ter) rs386834234
NM_183050.4(BCKDHB):c.1119del (p.Phe374fs) rs797045411
NM_183050.4(BCKDHB):c.1144T>C (p.Cys382Arg) rs727503822
NM_183050.4(BCKDHB):c.1149T>A (p.Tyr383Ter) rs190867671
NM_183050.4(BCKDHB):c.139_149del (p.Gln47fs) rs1057517414
NM_183050.4(BCKDHB):c.139del (p.Gln47fs)
NM_183050.4(BCKDHB):c.14dup (p.Ala6fs)
NM_183050.4(BCKDHB):c.163_164del (p.Thr55fs)
NM_183050.4(BCKDHB):c.169C>T (p.Gln57Ter) rs1554181192
NM_183050.4(BCKDHB):c.18_27del (p.Ala7fs) rs1057516781
NM_183050.4(BCKDHB):c.196+1G>A
NM_183050.4(BCKDHB):c.196+1G>C rs1554181203
NM_183050.4(BCKDHB):c.196+1G>T rs1554181203
NM_183050.4(BCKDHB):c.199C>T (p.Gln67Ter)
NM_183050.4(BCKDHB):c.1A>G (p.Met1Val) rs1005542482
NM_183050.4(BCKDHB):c.211dup (p.Met71fs)
NM_183050.4(BCKDHB):c.21dup (p.Ala8fs) rs2127698713
NM_183050.4(BCKDHB):c.250del (p.Ser84fs)
NM_183050.4(BCKDHB):c.272C>T (p.Ala91Val)
NM_183050.4(BCKDHB):c.274+1G>T
NM_183050.4(BCKDHB):c.274+2T>C
NM_183050.4(BCKDHB):c.275-1G>A
NM_183050.4(BCKDHB):c.275-2A>G rs1554184224
NM_183050.4(BCKDHB):c.281_291del (p.Phe94fs) rs1380402024
NM_183050.4(BCKDHB):c.293T>G (p.Val98Gly) rs869312126
NM_183050.4(BCKDHB):c.2T>C (p.Met1Thr) rs940391887
NM_183050.4(BCKDHB):c.320del (p.Thr107fs)
NM_183050.4(BCKDHB):c.329T>A (p.Leu110Ter)
NM_183050.4(BCKDHB):c.329_330delinsAA (p.Leu110Ter) rs2127727924
NM_183050.4(BCKDHB):c.342T>G (p.Tyr114Ter) rs398124573
NM_183050.4(BCKDHB):c.343+1G>C rs1770503105
NM_183050.4(BCKDHB):c.343+2T>G rs1554184237
NM_183050.4(BCKDHB):c.352A>T (p.Arg118Ter) rs1772645594
NM_183050.4(BCKDHB):c.352dup (p.Arg118fs)
NM_183050.4(BCKDHB):c.364dup (p.Thr122fs) rs1554189447
NM_183050.4(BCKDHB):c.365C>A (p.Thr122Asn) rs398124575
NM_183050.4(BCKDHB):c.368del (p.Pro123fs) rs1085307058
NM_183050.4(BCKDHB):c.392G>T (p.Gly131Val) rs774472182
NM_183050.4(BCKDHB):c.403G>A (p.Gly135Arg) rs751953459
NM_183050.4(BCKDHB):c.415_416del (p.Thr139fs)
NM_183050.4(BCKDHB):c.41_51dup (p.Gly18fs)
NM_183050.4(BCKDHB):c.478A>T (p.Ile160Phe) rs1582275277
NM_183050.4(BCKDHB):c.496A>T (p.Lys166Ter) rs1772735425
NM_183050.4(BCKDHB):c.498G>C (p.Lys166Asn) rs1562104211
NM_183050.4(BCKDHB):c.501T>G (p.Tyr167Ter) rs1772736212
NM_183050.4(BCKDHB):c.503G>A (p.Arg168His) rs749033513
NM_183050.4(BCKDHB):c.508C>T (p.Arg170Cys) rs398124581
NM_183050.4(BCKDHB):c.532G>T (p.Gly178Ter)
NM_183050.4(BCKDHB):c.547C>G (p.Arg183Gly)
NM_183050.4(BCKDHB):c.547C>T (p.Arg183Trp) rs149766077
NM_183050.4(BCKDHB):c.548G>A (p.Arg183Gln) rs79761867
NM_183050.4(BCKDHB):c.559_560del (p.Gly187fs)
NM_183050.4(BCKDHB):c.56_57del (p.Ala19fs)
NM_183050.4(BCKDHB):c.57_64dup (p.His22fs) rs1410520713
NM_183050.4(BCKDHB):c.580C>T (p.Leu194Phe)
NM_183050.4(BCKDHB):c.580_583del (p.Leu194fs)
NM_183050.4(BCKDHB):c.583dup (p.Tyr195fs) rs1772747408
NM_183050.4(BCKDHB):c.584A>G (p.Tyr195Cys)
NM_183050.4(BCKDHB):c.592_593del (p.Gln198fs) rs398124586
NM_183050.4(BCKDHB):c.595_596del (p.Ser199_Pro200insTer) rs398124587
NM_183050.4(BCKDHB):c.598C>G (p.Pro200Ala)
NM_183050.4(BCKDHB):c.612del (p.Phe204fs) rs1210649507
NM_183050.4(BCKDHB):c.612dup (p.Ala205fs)
NM_183050.4(BCKDHB):c.616C>T (p.His206Tyr) rs121965004
NM_183050.4(BCKDHB):c.625G>T (p.Gly209Ter) rs1389512878
NM_183050.4(BCKDHB):c.633+1G>C rs398124589
NM_183050.4(BCKDHB):c.633+1G>T rs398124589
NM_183050.4(BCKDHB):c.633+2T>C
NM_183050.4(BCKDHB):c.634-2A>G
NM_183050.4(BCKDHB):c.646A>G (p.Arg216Gly)
NM_183050.4(BCKDHB):c.665A>G (p.Lys222Arg)
NM_183050.4(BCKDHB):c.691_693delinsAA (p.Asp231fs)
NM_183050.4(BCKDHB):c.714dup (p.Glu239Ter) rs1167005638
NM_183050.4(BCKDHB):c.730del (p.Tyr244fs) rs1057516572
NM_183050.4(BCKDHB):c.732C>A (p.Tyr244Ter) rs537988425
NM_183050.4(BCKDHB):c.741dup (p.Ala248fs)
NM_183050.4(BCKDHB):c.742+1G>A rs1554190322
NM_183050.4(BCKDHB):c.767A>G (p.Tyr256Cys)
NM_183050.4(BCKDHB):c.784del (p.Gln262fs)
NM_183050.4(BCKDHB):c.790G>T (p.Glu264Ter) rs933828560
NM_183050.4(BCKDHB):c.792dup (p.Val265fs)
NM_183050.4(BCKDHB):c.811_824del (p.Asp271fs) rs1554194690
NM_183050.4(BCKDHB):c.818C>T (p.Thr273Ile)
NM_183050.4(BCKDHB):c.830G>A (p.Trp277Ter) rs1774369632
NM_183050.4(BCKDHB):c.831G>A (p.Trp277Ter)
NM_183050.4(BCKDHB):c.831G>C (p.Trp277Cys)
NM_183050.4(BCKDHB):c.833G>A (p.Gly278Asp)
NM_183050.4(BCKDHB):c.840+1G>A rs760538465
NM_183050.4(BCKDHB):c.840+1G>T rs760538465
NM_183050.4(BCKDHB):c.840+2T>G rs398124596
NM_183050.4(BCKDHB):c.841-1G>C rs962489830
NM_183050.4(BCKDHB):c.841-1G>T
NM_183050.4(BCKDHB):c.841-2A>G
NM_183050.4(BCKDHB):c.843dup (p.His282fs)
NM_183050.4(BCKDHB):c.853del (p.Arg285fs) rs1057517124
NM_183050.4(BCKDHB):c.885del (p.Gly296fs) rs398124599
NM_183050.4(BCKDHB):c.93_103dup (p.Phe35fs) rs398124601
NM_183050.4(BCKDHB):c.949A>T (p.Lys317Ter)
NM_183050.4(BCKDHB):c.94del (p.Ala32fs) rs2127698980
NM_183050.4(BCKDHB):c.951+1G>A rs756647770
NM_183050.4(BCKDHB):c.952-2A>G rs1554205499
NM_183050.4(BCKDHB):c.964del (p.Thr322fs) rs1554205506
NM_183050.4(BCKDHB):c.975del (p.Leu325_Leu326insTer)
NM_183050.4(BCKDHB):c.97del (p.Arg33fs) rs1057516731
NM_183050.4(BCKDHB):c.988G>A (p.Glu330Lys) rs1224101411
NM_183050.4(BCKDHB):c.991G>A (p.Ala331Thr) rs1777825845
NM_183050.4(BCKDHB):c.995C>T (p.Pro332Leu) rs1554205541

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