ClinVar Miner

Variants in gene BCKDHB with conflicting interpretations "likely pathogenic" and "pathogenic"

Submission 1 (likely pathogenic) minimum review status: Submission 1 (likely pathogenic) method:
Submission 2 (pathogenic) minimum review status: Submission 2 (pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 55
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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.33_34del (p.Leu12fs) rs398124572 0.00003
NM_183050.4(BCKDHB):c.1016C>T (p.Ser339Leu) rs398124561 0.00002
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.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.1006G>A (p.Gly336Ser) rs398124560
NM_183050.4(BCKDHB):c.1007dup (p.Phe337fs)
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.1046G>A (p.Cys349Tyr) rs398124562
NM_183050.4(BCKDHB):c.1095_1096del (p.Pro366fs)
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.169C>T (p.Gln57Ter) rs1554181192
NM_183050.4(BCKDHB):c.1A>G (p.Met1Val) rs1005542482
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.329_330delinsAA (p.Leu110Ter) rs2127727924
NM_183050.4(BCKDHB):c.342T>G (p.Tyr114Ter) rs398124573
NM_183050.4(BCKDHB):c.343+2T>G rs1554184237
NM_183050.4(BCKDHB):c.352dup (p.Arg118fs)
NM_183050.4(BCKDHB):c.368del (p.Pro123fs) rs1085307058
NM_183050.4(BCKDHB):c.403G>A (p.Gly135Arg) rs751953459
NM_183050.4(BCKDHB):c.496A>T (p.Lys166Ter) rs1772735425
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.547C>T (p.Arg183Trp) rs149766077
NM_183050.4(BCKDHB):c.57_64dup (p.His22fs) rs1410520713
NM_183050.4(BCKDHB):c.580C>T (p.Leu194Phe)
NM_183050.4(BCKDHB):c.583dup (p.Tyr195fs) rs1772747408
NM_183050.4(BCKDHB):c.595_596del (p.Ser199_Pro200insTer) rs398124587
NM_183050.4(BCKDHB):c.612del (p.Phe204fs) rs1210649507
NM_183050.4(BCKDHB):c.633+1G>T rs398124589
NM_183050.4(BCKDHB):c.730del (p.Tyr244fs) rs1057516572
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.840+2T>G rs398124596
NM_183050.4(BCKDHB):c.843dup (p.His282fs)
NM_183050.4(BCKDHB):c.885del (p.Gly296fs) rs398124599
NM_183050.4(BCKDHB):c.93_103dup (p.Phe35fs) rs398124601
NM_183050.4(BCKDHB):c.94del (p.Ala32fs) rs2127698980
NM_183050.4(BCKDHB):c.988G>A (p.Glu330Lys) rs1224101411
NM_183050.4(BCKDHB):c.995C>T (p.Pro332Leu) rs1554205541

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