ClinVar Miner

List of variants in gene CLPB studied for 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia

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Total variants: 225
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HGVS dbSNP
NC_000011.10:g.(?_72293347)_(72434494_?)del
NC_000011.10:g.(?_72372905)_(72380404_?)del
NC_000011.9:g.(?_72083949)_(72084078_?)del
NM_001258392.3(CLPB):c.1003G>A (p.Glu335Lys) rs765777645
NM_001258392.3(CLPB):c.1018G>A (p.Asp340Asn)
NM_001258392.3(CLPB):c.1053A>G (p.Gly351=)
NM_001258392.3(CLPB):c.105G>T (p.Arg35=)
NM_001258392.3(CLPB):c.1122+16T>C rs187846751
NM_001258392.3(CLPB):c.1123-3C>T
NM_001258392.3(CLPB):c.1132A>G (p.Arg378Gly) rs144078282
NM_001258392.3(CLPB):c.1140C>T (p.Asp380=) rs200950385
NM_001258392.3(CLPB):c.1143G>A (p.Met381Ile) rs786205137
NM_001258392.3(CLPB):c.1146C>T (p.Ser382=)
NM_001258392.3(CLPB):c.1147G>A (p.Glu383Lys)
NM_001258392.3(CLPB):c.114T>C (p.Thr38=) rs1590948323
NM_001258392.3(CLPB):c.1159C>T (p.Arg387Ter) rs200203460
NM_001258392.3(CLPB):c.1164C>T (p.His388=) rs202009794
NM_001258392.3(CLPB):c.1167+5G>T rs1565424666
NM_001258392.3(CLPB):c.1167+6T>C
NM_001258392.3(CLPB):c.1168-9T>C rs979851122
NM_001258392.3(CLPB):c.1214A>T (p.Glu405Val)
NM_001258392.3(CLPB):c.1215_1217inv (p.Glu405_Gly406delinsAspPro)
NM_001258392.3(CLPB):c.1218T>C (p.Gly406=) rs200323616
NM_001258392.3(CLPB):c.1253A>G (p.Asn418Ser) rs116118397
NM_001258392.3(CLPB):c.1287C>T (p.Ala429=) rs143482511
NM_001258392.3(CLPB):c.1292C>T (p.Pro431Leu) rs746582120
NM_001258392.3(CLPB):c.1293dup (p.Asp432fs)
NM_001258392.3(CLPB):c.130G>A (p.Glu44Lys)
NM_001258392.3(CLPB):c.1320G>A (p.Leu440=) rs146721061
NM_001258392.3(CLPB):c.135G>T (p.Pro45=) rs534420559
NM_001258392.3(CLPB):c.1361T>C (p.Ile454Thr)
NM_001258392.3(CLPB):c.1366T>C (p.Cys456Arg) rs886041118
NM_001258392.3(CLPB):c.1374C>T (p.Asp458=)
NM_001258392.3(CLPB):c.1375G>A (p.Ala459Thr) rs372344202
NM_001258392.3(CLPB):c.1392C>G (p.Thr464=)
NM_001258392.3(CLPB):c.1408G>A (p.Asp470Asn) rs778269139
NM_001258392.3(CLPB):c.1409A>G (p.Asp470Gly)
NM_001258392.3(CLPB):c.1411G>A (p.Glu471Lys) rs748915609
NM_001258392.3(CLPB):c.1416C>T (p.Ile472=)
NM_001258392.3(CLPB):c.1425C>T (p.His475=) rs756497518
NM_001258392.3(CLPB):c.1428G>A (p.Ala476=)
NM_001258392.3(CLPB):c.1429C>T (p.Leu477=) rs77345581
NM_001258392.3(CLPB):c.142C>G (p.Leu48Val)
NM_001258392.3(CLPB):c.144G>A (p.Leu48=) rs557250186
NM_001258392.3(CLPB):c.1453G>A (p.Glu485Lys)
NM_001258392.3(CLPB):c.1461C>T (p.Ser487=)
NM_001258392.3(CLPB):c.1462C>T (p.Arg488Cys) rs369380599
NM_001258392.3(CLPB):c.1463G>A (p.Arg488His)
NM_001258392.3(CLPB):c.1468C>T (p.Arg490Cys)
NM_001258392.3(CLPB):c.1474_1475delinsTG (p.Ala492Cys) rs1555085159
NM_001258392.3(CLPB):c.1476C>T (p.Ala492=) rs139236388
NM_001258392.3(CLPB):c.1482C>G (p.Asn494Lys) rs779812366
NM_001258392.3(CLPB):c.1485G>A (p.Leu495=)
NM_001258392.3(CLPB):c.1503T>G (p.Ser501Arg)
NM_001258392.3(CLPB):c.1514C>T (p.Thr505Ile)
NM_001258392.3(CLPB):c.1530C>G (p.Phe510Leu)
NM_001258392.3(CLPB):c.1535A>T (p.Glu512Val) rs373383193
NM_001258392.3(CLPB):c.1542G>A (p.Val514=) rs935570035
NM_001258392.3(CLPB):c.1546C>T (p.Arg516Cys) rs748289105
NM_001258392.3(CLPB):c.1552A>G (p.Ile518Val)
NM_001258392.3(CLPB):c.1570C>T (p.Arg524Trp) rs200299650
NM_001258392.3(CLPB):c.1571G>A (p.Arg524Gln) rs576652298
NM_001258392.3(CLPB):c.1579G>A (p.Glu527Lys) rs1590753263
NM_001258392.3(CLPB):c.1581G>A (p.Glu527=) rs752634197
NM_001258392.3(CLPB):c.1591C>T (p.Arg531Trp)
NM_001258392.3(CLPB):c.1592G>A (p.Arg531Gln) rs1590753221
NM_001258392.3(CLPB):c.1595del (p.Ile532fs) rs876657402
NM_001258392.3(CLPB):c.1605C>T (p.Ile535=)
NM_001258392.3(CLPB):c.1606G>A (p.Val536Ile)
NM_001258392.3(CLPB):c.1610A>C (p.Tyr537Ser)
NM_001258392.3(CLPB):c.1610A>G (p.Tyr537Cys) rs150857620
NM_001258392.3(CLPB):c.1620C>T (p.Pro540=) rs200970392
NM_001258392.3(CLPB):c.1631C>G (p.Ser544Trp)
NM_001258392.3(CLPB):c.1644A>G (p.Gln548=)
NM_001258392.3(CLPB):c.1666T>A (p.Phe556Ile)
NM_001258392.3(CLPB):c.1672G>A (p.Ala558Thr)
NM_001258392.3(CLPB):c.1680+6A>C
NM_001258392.3(CLPB):c.1682C>T (p.Ala561Val) rs748010262
NM_001258392.3(CLPB):c.1698C>T (p.Asn566=) rs199965220
NM_001258392.3(CLPB):c.1704G>A (p.Thr568=) rs141458508
NM_001258392.3(CLPB):c.1710C>T (p.Leu570=) rs140958543
NM_001258392.3(CLPB):c.1718G>A (p.Arg573His)
NM_001258392.3(CLPB):c.1740C>T (p.Val580=) rs759628306
NM_001258392.3(CLPB):c.1743C>T (p.Asp581=) rs147296630
NM_001258392.3(CLPB):c.1744G>A (p.Gly582Ser)
NM_001258392.3(CLPB):c.1760A>G (p.Tyr587Cys) rs786205138
NM_001258392.3(CLPB):c.1777A>C (p.Lys593Gln)
NM_001258392.3(CLPB):c.1786-3C>T rs372126133
NM_001258392.3(CLPB):c.1786-6C>T rs191389918
NM_001258392.3(CLPB):c.1792C>T (p.Arg598Cys) rs150343959
NM_001258392.3(CLPB):c.1795C>T (p.Arg599Cys)
NM_001258392.3(CLPB):c.1796G>A (p.Arg599His) rs149463053
NM_001258392.3(CLPB):c.1803G>A (p.Val601=)
NM_001258392.3(CLPB):c.1825G>A (p.Glu609Lys) rs375934856
NM_001258392.3(CLPB):c.182C>T (p.Ala61Val)
NM_001258392.3(CLPB):c.1840C>G (p.Pro614Ala)
NM_001258392.3(CLPB):c.1844G>T (p.Gly615Val)
NM_001258392.3(CLPB):c.1847G>T (p.Gly616Val) rs759500860
NM_001258392.3(CLPB):c.1847dup (p.Cys617fs) rs886041119
NM_001258392.3(CLPB):c.1859G>A (p.Arg620His) rs137882645
NM_001258392.3(CLPB):c.1859G>T (p.Arg620Leu) rs137882645
NM_001258392.3(CLPB):c.1860C>T (p.Arg620=) rs35401939
NM_001258392.3(CLPB):c.1866G>A (p.Thr622=) rs140281600
NM_001258392.3(CLPB):c.1870G>C (p.Glu624Gln)
NM_001258392.3(CLPB):c.189C>G (p.Phe63Leu)
NM_001258392.3(CLPB):c.1908G>A (p.Leu636=)
NM_001258392.3(CLPB):c.1935C>T (p.Leu645=) rs138717332
NM_001258392.3(CLPB):c.1937C>G (p.Pro646Arg)
NM_001258392.3(CLPB):c.193G>T (p.Gly65Ter)
NM_001258392.3(CLPB):c.1955T>A (p.Ile652Asn) rs886041120
NM_001258392.3(CLPB):c.1958T>C (p.Ile653Thr) rs144777839
NM_001258392.3(CLPB):c.1968C>T (p.Asp656=)
NM_001258392.3(CLPB):c.1969A>T (p.Ser657Cys)
NM_001258392.3(CLPB):c.1979G>A (p.Arg660His)
NM_001258392.3(CLPB):c.1993C>T (p.Arg665Trp) rs141383303
NM_001258392.3(CLPB):c.1994G>A (p.Arg665Gln)
NM_001258392.3(CLPB):c.1995G>T (p.Arg665=) rs894319387
NM_001258392.3(CLPB):c.2021G>T (p.Cys674Phe)
NM_001258392.3(CLPB):c.2026A>G (p.Thr676Ala) rs112524097
NM_001258392.3(CLPB):c.2033A>G (p.Ter678Trp)
NM_001258392.3(CLPB):c.203C>A (p.Ala68Glu)
NM_001258392.3(CLPB):c.212G>C (p.Gly71Ala) rs146099754
NM_001258392.3(CLPB):c.214G>A (p.Gly72Arg) rs758376345
NM_001258392.3(CLPB):c.221dup (p.Gly76fs)
NM_001258392.3(CLPB):c.229C>A (p.Arg77Ser)
NM_001258392.3(CLPB):c.246C>T (p.Cys82=)
NM_001258392.3(CLPB):c.247C>T (p.Leu83Phe) rs1590947700
NM_001258392.3(CLPB):c.249C>T (p.Leu83=) rs200845330
NM_001258392.3(CLPB):c.254C>T (p.Ala85Val)
NM_001258392.3(CLPB):c.259A>T (p.Thr87Ser)
NM_001258392.3(CLPB):c.260C>T (p.Thr87Ile) rs1424542665
NM_001258392.3(CLPB):c.261T>C (p.Thr87=) rs1427118335
NM_001258392.3(CLPB):c.299G>C (p.Gly100Ala)
NM_001258392.3(CLPB):c.2T>C (p.Met1Thr)
NM_001258392.3(CLPB):c.325A>G (p.Ser109Gly)
NM_001258392.3(CLPB):c.347G>C (p.Cys116Ser) rs549191970
NM_001258392.3(CLPB):c.349G>T (p.Ala117Ser) rs150248137
NM_001258392.3(CLPB):c.356C>G (p.Ala119Gly)
NM_001258392.3(CLPB):c.359C>G (p.Ala120Gly) rs1565107812
NM_001258392.3(CLPB):c.370G>T (p.Val124Phe) rs139361195
NM_001258392.3(CLPB):c.384C>A (p.Ser128Arg)
NM_001258392.3(CLPB):c.38C>T (p.Ala13Val)
NM_001258392.3(CLPB):c.393G>A (p.Pro131=)
NM_001258392.3(CLPB):c.39G>A (p.Ala13=)
NM_001258392.3(CLPB):c.403+7_403+8del rs754849241
NM_001258392.3(CLPB):c.404-16C>T rs371250603
NM_001258392.3(CLPB):c.441G>C (p.Met147Ile) rs146895312
NM_001258392.3(CLPB):c.449_451delinsAATAT (p.Val150fs)
NM_001258392.3(CLPB):c.450C>A (p.Val150=)
NM_001258392.3(CLPB):c.455+8G>C rs200993434
NM_001258392.3(CLPB):c.465A>G (p.Ser155=) rs138171096
NM_001258392.3(CLPB):c.51C>A (p.Leu17=) rs371869002
NM_001258392.3(CLPB):c.528C>A (p.Ile176=)
NM_001258392.3(CLPB):c.531C>T (p.Asn177=) rs771786059
NM_001258392.3(CLPB):c.546G>A (p.Val182=)
NM_001258392.3(CLPB):c.555C>T (p.Val185=)
NM_001258392.3(CLPB):c.56G>A (p.Arg19Gln)
NM_001258392.3(CLPB):c.57G>C (p.Arg19=) rs112362953
NM_001258392.3(CLPB):c.582C>T (p.Asn194=)
NM_001258392.3(CLPB):c.58C>T (p.Leu20=)
NM_001258392.3(CLPB):c.619A>G (p.Lys207Glu) rs146588273
NM_001258392.3(CLPB):c.638C>G (p.Ser213Cys)
NM_001258392.3(CLPB):c.646+6T>C rs374982363
NM_001258392.3(CLPB):c.646+7273G>C
NM_001258392.3(CLPB):c.646+7280C>T rs759358526
NM_001258392.3(CLPB):c.646+7281G>A rs150552809
NM_001258392.3(CLPB):c.646+7288G>A rs143097446
NM_001258392.3(CLPB):c.646+7290C>T
NM_001258392.3(CLPB):c.646+7291G>A rs770932848
NM_001258392.3(CLPB):c.646+7295C>A
NM_001258392.3(CLPB):c.646+7310G>A
NM_001258392.3(CLPB):c.646+7323G>T rs374473067
NM_001258392.3(CLPB):c.646+7335T>C rs746357833
NM_001258392.3(CLPB):c.646+7355C>T
NM_001258392.3(CLPB):c.646+7358T>C rs201350869
NM_001258392.3(CLPB):c.646+7371C>T
NM_001258392.3(CLPB):c.646+7G>A
NM_001258392.3(CLPB):c.647-6C>T rs1377454533
NM_001258392.3(CLPB):c.651G>C (p.Leu217=)
NM_001258392.3(CLPB):c.658C>T (p.Arg220Ter) rs777202372
NM_001258392.3(CLPB):c.663G>A (p.Glu221=) rs571326442
NM_001258392.3(CLPB):c.680G>T (p.Arg227Met) rs1284671735
NM_001258392.3(CLPB):c.690C>T (p.Asn230=) rs200517382
NM_001258392.3(CLPB):c.694G>A (p.Ala232Thr)
NM_001258392.3(CLPB):c.713C>T (p.Thr238Met) rs200032855
NM_001258392.3(CLPB):c.715G>A (p.Ala239Thr) rs886041117
NM_001258392.3(CLPB):c.723C>T (p.His241=) rs368930954
NM_001258392.3(CLPB):c.725A>G (p.Tyr242Cys) rs777313457
NM_001258392.3(CLPB):c.730G>C (p.Val244Leu)
NM_001258392.3(CLPB):c.748C>G (p.Arg250Gly) rs146762466
NM_001258392.3(CLPB):c.748C>T (p.Arg250Cys)
NM_001258392.3(CLPB):c.751A>G (p.Thr251Ala)
NM_001258392.3(CLPB):c.757A>G (p.Lys253Glu)
NM_001258392.3(CLPB):c.758A>G (p.Lys253Arg)
NM_001258392.3(CLPB):c.764T>C (p.Leu255Pro) rs1555098495
NM_001258392.3(CLPB):c.771T>C (p.Asp257=)
NM_001258392.3(CLPB):c.776-10C>A
NM_001258392.3(CLPB):c.776-10C>G rs141271919
NM_001258392.3(CLPB):c.776-10_776-8del
NM_001258392.3(CLPB):c.776G>A (p.Gly259Glu)
NM_001258392.3(CLPB):c.794G>C (p.Arg265Thr) rs7938203
NM_001258392.3(CLPB):c.806G>T (p.Gly269Val)
NM_001258392.3(CLPB):c.812C>G (p.Thr271Arg)
NM_001258392.3(CLPB):c.817T>C (p.Leu273=)
NM_001258392.3(CLPB):c.819G>C (p.Leu273Phe) rs368150943
NM_001258392.3(CLPB):c.837G>A (p.Gly279=)
NM_001258392.3(CLPB):c.840A>G (p.Glu280=) rs36049191
NM_001258392.3(CLPB):c.844A>G (p.Met282Val) rs773028492
NM_001258392.3(CLPB):c.849G>A (p.Lys283=)
NM_001258392.3(CLPB):c.871A>T (p.Lys291Ter) rs786205139
NM_001258392.3(CLPB):c.889C>T (p.Arg297Trp) rs148534573
NM_001258392.3(CLPB):c.896G>A (p.Arg299His)
NM_001258392.3(CLPB):c.896G>C (p.Arg299Pro)
NM_001258392.3(CLPB):c.908A>G (p.Glu303Gly) rs144712077
NM_001258392.3(CLPB):c.910C>T (p.Arg304Trp)
NM_001258392.3(CLPB):c.914G>A (p.Arg305His)
NM_001258392.3(CLPB):c.916C>T (p.Arg306Cys)
NM_001258392.3(CLPB):c.934C>T (p.Arg312Ter) rs185461628
NM_001258392.3(CLPB):c.935G>A (p.Arg312Gln)
NM_001258392.3(CLPB):c.949A>G (p.Ile317Val) rs1590786067
NM_001258392.3(CLPB):c.966C>T (p.Ser322=) rs371562971
NM_001258392.3(CLPB):c.983G>A (p.Gly328Asp) rs1565433670
NM_001258392.3(CLPB):c.989C>G (p.Ala330Gly)
NM_001258392.3(CLPB):c.989C>T (p.Ala330Val) rs144942416
NM_001258392.3(CLPB):c.996G>A (p.Arg332=) rs146912721

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