ClinVar Miner

List of variants in gene BCKDHB reported by Eurofins NTD LLC (GA)

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Gene type:
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Total variants: 70
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HGVS dbSNP gnomAD frequency
NM_183050.4(BCKDHB):c.841-73C>T rs3828753 0.60052
NM_183050.4(BCKDHB):c.197-11G>T rs9448894 0.42545
NM_183050.4(BCKDHB):c.197-25A>G rs9448893 0.35785
NM_183050.4(BCKDHB):c.344-24C>T rs73479953 0.06567
NM_183050.4(BCKDHB):c.742+16A>G rs140373763 0.00220
NM_183050.4(BCKDHB):c.840+33A>G rs112060016 0.00121
NM_183050.4(BCKDHB):c.634-32T>C rs113814307 0.00120
NM_183050.4(BCKDHB):c.633+16T>C rs373772596 0.00089
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.727C>T (p.Leu243Phe) rs398124591 0.00004
NM_183050.4(BCKDHB):c.158A>C (p.His53Pro) rs398124567 0.00003
NM_183050.4(BCKDHB):c.331C>G (p.Arg111Gly) rs371117671 0.00003
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.1087T>A (p.Tyr363Asn) rs398124565 0.00002
NM_183050.4(BCKDHB):c.1057C>G (p.Leu353Val) rs398124563 0.00001
NM_183050.4(BCKDHB):c.302G>A (p.Gly101Asp) rs398124571 0.00001
NM_183050.4(BCKDHB):c.365C>T (p.Thr122Ile) rs398124575 0.00001
NM_183050.4(BCKDHB):c.479T>G (p.Ile160Ser) rs398124576 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.529T>C (p.Cys177Arg) rs398124583 0.00001
NM_183050.4(BCKDHB):c.587A>T (p.His196Leu) rs398124585 0.00001
NM_183050.4(BCKDHB):c.633+1G>A rs398124589 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.970C>T (p.Arg324Ter) rs398124603 0.00001
NM_183050.4(BCKDHB):c.*13G>A rs398124559
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.1063G>C (p.Ala355Pro) rs370815510
NM_183050.4(BCKDHB):c.1077A>C (p.Arg359Ser) rs398124564
NM_183050.4(BCKDHB):c.1114G>T (p.Glu372Ter) rs386834234
NM_183050.4(BCKDHB):c.1144T>C (p.Cys382Arg) rs727503822
NM_183050.4(BCKDHB):c.1147T>G (p.Tyr383Asp) rs398124566
NM_183050.4(BCKDHB):c.196+5G>A rs398124568
NM_183050.4(BCKDHB):c.197-30A>C rs398124569
NM_183050.4(BCKDHB):c.269C>T (p.Thr90Ile) rs398124570
NM_183050.4(BCKDHB):c.290A>T (p.Asp97Val) rs886043103
NM_183050.4(BCKDHB):c.342T>G (p.Tyr114Ter) rs398124573
NM_183050.4(BCKDHB):c.344-1G>A rs398124574
NM_183050.4(BCKDHB):c.368C>T (p.Pro123Leu) rs1562102656
NM_183050.4(BCKDHB):c.403G>A (p.Gly135Arg) rs751953459
NM_183050.4(BCKDHB):c.488A>T (p.Glu163Val) rs398124577
NM_183050.4(BCKDHB):c.493G>C (p.Ala165Pro) rs398124578
NM_183050.4(BCKDHB):c.498G>C (p.Lys166Asn) rs1562104211
NM_183050.4(BCKDHB):c.508C>A (p.Arg170Ser) rs398124581
NM_183050.4(BCKDHB):c.508C>T (p.Arg170Cys) rs398124581
NM_183050.4(BCKDHB):c.509G>C (p.Arg170Pro) rs371518124
NM_183050.4(BCKDHB):c.51A>C (p.Ala17=) rs376293687
NM_183050.4(BCKDHB):c.547C>T (p.Arg183Trp) rs149766077
NM_183050.4(BCKDHB):c.574G>A (p.Gly192Arg) rs398124584
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.605C>T (p.Ala202Val) rs398124588
NM_183050.4(BCKDHB):c.674T>C (p.Leu225Pro) rs398124590
NM_183050.4(BCKDHB):c.748G>T (p.Glu250Ter) rs398124592
NM_183050.4(BCKDHB):c.817A>C (p.Thr273Pro) rs398124595
NM_183050.4(BCKDHB):c.840+2T>G rs398124596
NM_183050.4(BCKDHB):c.845A>G (p.His282Arg) rs398124597
NM_183050.4(BCKDHB):c.902T>G (p.Val301Gly) rs398124600
NM_183050.4(BCKDHB):c.93_103del (p.Ala32fs) rs398124601
NM_183050.4(BCKDHB):c.951+48C>T rs3749896
NM_183050.4(BCKDHB):c.952-1G>A rs398124602
NM_183050.4(BCKDHB):c.974T>G (p.Leu325Arg) rs398124604

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