ClinVar Miner

List of variants in gene BCKDHB reported as uncertain significance for Maple syrup urine disease

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Gene type:
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Total variants: 148
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HGVS dbSNP gnomAD frequency
NM_183050.4(BCKDHB):c.*2212T>C rs191556844 0.00257
NM_183050.4(BCKDHB):c.633G>C (p.Lys211Asn) rs143427811 0.00086
NM_183050.4(BCKDHB):c.*1603G>A rs143744799 0.00057
NM_183050.4(BCKDHB):c.*1554C>G rs563993638 0.00054
NM_183050.4(BCKDHB):c.*1010A>G rs536048070 0.00044
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.*574A>G rs527284649 0.00023
NM_183050.4(BCKDHB):c.*1315G>A rs760136719 0.00020
NM_183050.4(BCKDHB):c.*921C>T rs542630714 0.00020
NM_183050.4(BCKDHB):c.*466G>T rs886061809 0.00009
NM_183050.4(BCKDHB):c.*569G>A rs1000319023 0.00008
NM_183050.4(BCKDHB):c.*644C>T rs535962304 0.00008
NM_183050.4(BCKDHB):c.*2224T>A rs1037438345 0.00007
NM_183050.4(BCKDHB):c.*1908A>G rs368380717 0.00006
NM_183050.4(BCKDHB):c.509G>A (p.Arg170His) rs371518124 0.00006
NM_183050.4(BCKDHB):c.1168A>G (p.Ile390Val) rs753690047 0.00005
NM_183050.4(BCKDHB):c.434C>T (p.Ala145Val) rs574122134 0.00004
NM_183050.4(BCKDHB):c.727C>T (p.Leu243Phe) rs398124591 0.00004
NM_183050.4(BCKDHB):c.33_34del (p.Leu12fs) rs398124572 0.00003
NM_183050.4(BCKDHB):c.5C>T (p.Ala2Val) rs769876670 0.00003
NM_183050.4(BCKDHB):c.*2018A>G rs1049658494 0.00002
NM_183050.4(BCKDHB):c.*2245C>G rs537076572 0.00002
NM_183050.4(BCKDHB):c.*922A>G rs371667903 0.00002
NM_183050.4(BCKDHB):c.1087T>A (p.Tyr363Asn) rs398124565 0.00002
NM_183050.4(BCKDHB):c.239C>G (p.Ala80Gly) rs371131253 0.00002
NM_183050.4(BCKDHB):c.449C>T (p.Ala150Val) rs867033248 0.00002
NM_183050.4(BCKDHB):c.732C>T (p.Tyr244=) rs537988425 0.00002
NM_183050.4(BCKDHB):c.92T>C (p.Leu31Pro) rs763434607 0.00002
NM_183050.4(BCKDHB):c.*896A>G rs886061811 0.00001
NM_183050.4(BCKDHB):c.1031C>T (p.Thr344Ile) rs761138547 0.00001
NM_183050.4(BCKDHB):c.1057C>G (p.Leu353Val) rs398124563 0.00001
NM_183050.4(BCKDHB):c.1067C>T (p.Pro356Leu) rs1304667430 0.00001
NM_183050.4(BCKDHB):c.1132G>A (p.Asp378Asn) rs970365846 0.00001
NM_183050.4(BCKDHB):c.1159C>T (p.Arg387Ter) rs751599203 0.00001
NM_183050.4(BCKDHB):c.115G>A (p.Ala39Thr) rs914935376 0.00001
NM_183050.4(BCKDHB):c.119C>T (p.Ala40Val) rs752892659 0.00001
NM_183050.4(BCKDHB):c.245A>G (p.Asp82Gly) rs150769284 0.00001
NM_183050.4(BCKDHB):c.263A>T (p.Asp88Val) rs374253889 0.00001
NM_183050.4(BCKDHB):c.26G>C (p.Gly9Ala) rs780722473 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.529T>C (p.Cys177Arg) rs398124583 0.00001
NM_183050.4(BCKDHB):c.587A>T (p.His196Leu) rs398124585 0.00001
NM_183050.4(BCKDHB):c.854G>A (p.Arg285Gln) rs761827220 0.00001
NM_183050.4(BCKDHB):c.866C>T (p.Ser289Phe) rs762438504 0.00001
NM_183050.4(BCKDHB):c.895T>A (p.Cys299Ser) rs370331553 0.00001
NC_000006.11:g.(?_80877375)_(80881127_?)dup
NM_183050.3(BCKDHB):c.-41C>T rs763746493
NM_183050.4(BCKDHB):c.*1008T>C rs1283478954
NM_183050.4(BCKDHB):c.*1143A>G rs1770126804
NM_183050.4(BCKDHB):c.*1162T>C rs886061812
NM_183050.4(BCKDHB):c.*1239dup rs772846294
NM_183050.4(BCKDHB):c.*1279A>G rs1770137265
NM_183050.4(BCKDHB):c.*13G>A rs398124559
NM_183050.4(BCKDHB):c.*1909T>C rs529166544
NM_183050.4(BCKDHB):c.*2224dup rs757446051
NM_183050.4(BCKDHB):c.*501A>G rs1770079109
NM_183050.4(BCKDHB):c.*540T>C rs201154827
NM_183050.4(BCKDHB):c.*559_*560dup rs10579475
NM_183050.4(BCKDHB):c.*560dup rs10579475
NM_183050.4(BCKDHB):c.*777G>C rs954822411
NM_183050.4(BCKDHB):c.-15C>T rs747088249
NM_183050.4(BCKDHB):c.100G>A (p.Gly34Ser)
NM_183050.4(BCKDHB):c.1038+5A>T
NM_183050.4(BCKDHB):c.1039-10C>G rs760262704
NM_183050.4(BCKDHB):c.1039-10_1039-9del
NM_183050.4(BCKDHB):c.1039-9dup rs2128020517
NM_183050.4(BCKDHB):c.1042G>A (p.Glu348Lys) rs989873156
NM_183050.4(BCKDHB):c.1046G>A (p.Cys349Tyr) rs398124562
NM_183050.4(BCKDHB):c.1070T>C (p.Ile357Thr) rs2128020569
NM_183050.4(BCKDHB):c.1097C>T (p.Pro366Leu) rs1770038350
NM_183050.4(BCKDHB):c.10G>A (p.Val4Ile) rs774255890
NM_183050.4(BCKDHB):c.1112T>C (p.Phe371Ser) rs750930993
NM_183050.4(BCKDHB):c.1115A>T (p.Glu372Val) rs1554216344
NM_183050.4(BCKDHB):c.1130C>T (p.Pro377Leu) rs1554216354
NM_183050.4(BCKDHB):c.1133A>G (p.Asp378Gly) rs1185514016
NM_183050.4(BCKDHB):c.1162A>G (p.Lys388Glu)
NM_183050.4(BCKDHB):c.1175A>G (p.Tyr392Cys)
NM_183050.4(BCKDHB):c.131A>G (p.Asp44Gly) rs2127699100
NM_183050.4(BCKDHB):c.171G>C (p.Gln57His) rs773031829
NM_183050.4(BCKDHB):c.173C>G (p.Pro58Arg)
NM_183050.4(BCKDHB):c.193T>G (p.Tyr65Asp) rs1209549339
NM_183050.4(BCKDHB):c.196+5G>A rs398124568
NM_183050.4(BCKDHB):c.19G>A (p.Ala7Thr)
NM_183050.4(BCKDHB):c.200A>G (p.Gln67Arg) rs2127726102
NM_183050.4(BCKDHB):c.203C>T (p.Thr68Ile)
NM_183050.4(BCKDHB):c.238G>A (p.Ala80Thr)
NM_183050.4(BCKDHB):c.23C>G (p.Ala8Gly)
NM_183050.4(BCKDHB):c.274+5C>T rs1770414545
NM_183050.4(BCKDHB):c.293T>G (p.Val98Gly) rs869312126
NM_183050.4(BCKDHB):c.301G>A (p.Gly101Ser) rs1770499193
NM_183050.4(BCKDHB):c.320C>G (p.Thr107Ser)
NM_183050.4(BCKDHB):c.338A>G (p.Lys113Arg) rs770263755
NM_183050.4(BCKDHB):c.343+2dup
NM_183050.4(BCKDHB):c.349G>A (p.Asp117Asn)
NM_183050.4(BCKDHB):c.365C>A (p.Thr122Asn) rs398124575
NM_183050.4(BCKDHB):c.367C>T (p.Pro123Ser)
NM_183050.4(BCKDHB):c.37A>G (p.Arg13Gly)
NM_183050.4(BCKDHB):c.389T>C (p.Val130Ala)
NM_183050.4(BCKDHB):c.398G>A (p.Gly133Glu) rs1772648897
NM_183050.4(BCKDHB):c.410C>A (p.Ala137Glu) rs776631396
NM_183050.4(BCKDHB):c.444G>C (p.Gln148His) rs2127773506
NM_183050.4(BCKDHB):c.454T>G (p.Tyr152Asp) rs2127773518
NM_183050.4(BCKDHB):c.464_465delinsGG (p.Pro155Arg) rs2127773530
NM_183050.4(BCKDHB):c.47C>A (p.Ala16Glu) rs537680296
NM_183050.4(BCKDHB):c.497A>T (p.Lys166Met)
NM_183050.4(BCKDHB):c.509G>C (p.Arg170Pro) rs371518124
NM_183050.4(BCKDHB):c.517G>T (p.Asp173Tyr) rs1554189815
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.569G>C (p.Gly190Ala)
NM_183050.4(BCKDHB):c.56C>T (p.Ala19Val)
NM_183050.4(BCKDHB):c.593A>T (p.Gln198Leu)
NM_183050.4(BCKDHB):c.599C>T (p.Pro200Leu) rs1554189861
NM_183050.4(BCKDHB):c.604G>A (p.Ala202Thr)
NM_183050.4(BCKDHB):c.617A>C (p.His206Pro) rs1562104694
NM_183050.4(BCKDHB):c.637G>T (p.Val213Phe) rs994415333
NM_183050.4(BCKDHB):c.673C>G (p.Leu225Val)
NM_183050.4(BCKDHB):c.674T>C (p.Leu225Pro) rs398124590
NM_183050.4(BCKDHB):c.686T>C (p.Ile229Thr)
NM_183050.4(BCKDHB):c.726A>G (p.Ile242Met)
NM_183050.4(BCKDHB):c.757A>C (p.Ile253Leu)
NM_183050.4(BCKDHB):c.772A>T (p.Ile258Phe)
NM_183050.4(BCKDHB):c.77T>C (p.Leu26Pro) rs1769081318
NM_183050.4(BCKDHB):c.790G>A (p.Glu264Lys)
NM_183050.4(BCKDHB):c.794T>C (p.Val265Ala)
NM_183050.4(BCKDHB):c.796A>G (p.Ile266Val)
NM_183050.4(BCKDHB):c.812A>C (p.Asp271Ala) rs2127823416
NM_183050.4(BCKDHB):c.821T>C (p.Leu274Pro) rs1582342243
NM_183050.4(BCKDHB):c.827C>G (p.Ala276Gly) rs1774369297
NM_183050.4(BCKDHB):c.835A>G (p.Thr279Ala) rs775427993
NM_183050.4(BCKDHB):c.845A>C (p.His282Pro)
NM_183050.4(BCKDHB):c.862G>C (p.Ala288Pro) rs1210713694
NM_183050.4(BCKDHB):c.885del (p.Gly296fs) rs398124599
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.943A>G (p.Ile315Val)
NM_183050.4(BCKDHB):c.951+4T>C rs778135997
NM_183050.4(BCKDHB):c.953C>T (p.Ser318Phe) rs1562193767
NM_183050.4(BCKDHB):c.968G>C (p.Gly323Ala)
NM_183050.4(BCKDHB):c.971G>A (p.Arg324Gln)
NM_183050.4(BCKDHB):c.974T>G (p.Leu325Arg) rs398124604
NM_183050.4(BCKDHB):c.989A>G (p.Glu330Gly) rs769446376
NM_183050.4(BCKDHB):c.98G>A (p.Arg33Gln)
NM_183050.4(BCKDHB):c.995C>T (p.Pro332Leu) rs1554205541

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