ClinVar Miner

List of variants in gene BCKDHB reported by Counsyl

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Gene type:
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Total variants: 61
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HGVS dbSNP gnomAD frequency
NM_183050.4(BCKDHB):c.853C>T (p.Arg285Ter) rs398124598 0.00015
NM_183050.4(BCKDHB):c.509G>A (p.Arg170His) rs371518124 0.00006
NM_183050.4(BCKDHB):c.727C>T (p.Leu243Phe) rs398124591 0.00004
NM_183050.4(BCKDHB):c.1023del (p.Ser342fs) rs776270090 0.00001
NM_183050.4(BCKDHB):c.1067C>T (p.Pro356Leu) rs1304667430 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.410C>T (p.Ala137Val) rs776631396 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
NM_183050.4(BCKDHB):c.*13G>A rs398124559
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.1046G>A (p.Cys349Tyr) rs398124562
NM_183050.4(BCKDHB):c.1065del (p.Pro356fs) rs869312129
NM_183050.4(BCKDHB):c.1114G>T (p.Glu372Ter) rs386834234
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.169C>T (p.Gln57Ter) rs1554181192
NM_183050.4(BCKDHB):c.18_27del (p.Ala7fs) rs1057516781
NM_183050.4(BCKDHB):c.196+1G>C rs1554181203
NM_183050.4(BCKDHB):c.196+1G>T rs1554181203
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.342T>G (p.Tyr114Ter) rs398124573
NM_183050.4(BCKDHB):c.343+2T>G rs1554184237
NM_183050.4(BCKDHB):c.364dup (p.Thr122fs) rs1554189447
NM_183050.4(BCKDHB):c.365C>A (p.Thr122Asn) rs398124575
NM_183050.4(BCKDHB):c.487G>T (p.Glu163Ter) rs1057516799
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.517G>T (p.Asp173Tyr) rs1554189815
NM_183050.4(BCKDHB):c.595_596del (p.Ser199_Pro200insTer) rs398124587
NM_183050.4(BCKDHB):c.599C>T (p.Pro200Leu) rs1554189861
NM_183050.4(BCKDHB):c.633+1G>C rs398124589
NM_183050.4(BCKDHB):c.633+1G>T rs398124589
NM_183050.4(BCKDHB):c.637G>T (p.Val213Phe) rs994415333
NM_183050.4(BCKDHB):c.730del (p.Tyr244fs) rs1057516572
NM_183050.4(BCKDHB):c.742+1G>A rs1554190322
NM_183050.4(BCKDHB):c.811_824del (p.Asp271fs) rs1554194690
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.853del (p.Arg285fs) rs1057517124
NM_183050.4(BCKDHB):c.8_19dup (p.Val3_Ala6dup) rs1554180793
NM_183050.4(BCKDHB):c.931G>C (p.Asp311His) rs1246984003
NM_183050.4(BCKDHB):c.93_103dup (p.Phe35fs) rs398124601
NM_183050.4(BCKDHB):c.951+27209A>G rs207467187
NM_183050.4(BCKDHB):c.952-16_952-15del rs890103324
NM_183050.4(BCKDHB):c.952-2A>G rs1554205499
NM_183050.4(BCKDHB):c.964del (p.Thr322fs) rs1554205506
NM_183050.4(BCKDHB):c.974T>G (p.Leu325Arg) rs398124604
NM_183050.4(BCKDHB):c.97del (p.Arg33fs) rs1057516731
NM_183050.4(BCKDHB):c.988G>A (p.Glu330Lys) rs1224101411
NM_183050.4(BCKDHB):c.995C>T (p.Pro332Leu) rs1554205541

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