ClinVar Miner

List of variants in gene CLPB studied for classic organic aciduria

Included ClinVar conditions (47):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 501
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HGVS dbSNP gnomAD frequency
NM_001258392.3(CLPB):c.840A>G (p.Glu280=) rs36049191 0.09452
NM_001258392.3(CLPB):c.1860C>T (p.Arg620=) rs35401939 0.02006
NM_001258392.3(CLPB):c.794G>C (p.Arg265Thr) rs7938203 0.01762
NM_001258392.3(CLPB):c.996G>A (p.Arg332=) rs146912721 0.00764
NM_001258392.3(CLPB):c.2026A>G (p.Thr676Ala) rs112524097 0.00471
NM_030813.6(CLPB):c.668G>A (p.Ser223Asn) rs143097446 0.00471
NM_001258392.3(CLPB):c.1993C>T (p.Arg665Trp) rs141383303 0.00306
NM_030813.6(CLPB):c.661G>A (p.Gly221Ser) rs150552809 0.00247
NM_001258392.3(CLPB):c.349G>T (p.Ala117Ser) rs150248137 0.00159
NM_001258392.3(CLPB):c.1796G>A (p.Arg599His) rs149463053 0.00151
NM_001258392.3(CLPB):c.1122+16T>C rs187846751 0.00147
NM_001258392.3(CLPB):c.1792C>T (p.Arg598Cys) rs150343959 0.00129
NM_001258392.3(CLPB):c.1935C>T (p.Leu645=) rs138717332 0.00088
NM_001258392.3(CLPB):c.1535A>T (p.Glu512Val) rs373383193 0.00067
NM_001258392.3(CLPB):c.1958T>C (p.Ile653Thr) rs144777839 0.00051
NM_001258392.3(CLPB):c.723C>T (p.His241=) rs368930954 0.00048
NM_001258392.3(CLPB):c.1560+11T>C rs113954132 0.00046
NM_001258392.3(CLPB):c.989C>T (p.Ala330Val) rs144942416 0.00045
NM_001258392.3(CLPB):c.455+8G>C rs200993434 0.00040
NM_001258392.3(CLPB):c.776-10_776-8del rs572621494 0.00037
NM_001258392.3(CLPB):c.874-12C>G rs201936481 0.00036
NM_001258392.3(CLPB):c.619A>G (p.Lys207Glu) rs146588273 0.00035
NM_001258392.3(CLPB):c.404-16C>T rs371250603 0.00032
NM_001258392.3(CLPB):c.441G>C (p.Met147Ile) rs146895312 0.00032
NM_001258392.3(CLPB):c.1704G>A (p.Thr568=) rs141458508 0.00031
NM_001258392.3(CLPB):c.646+6T>C rs374982363 0.00027
NM_001258392.3(CLPB):c.693C>T (p.Arg231=) rs149932193 0.00027
NM_001258392.3(CLPB):c.465A>G (p.Ser155=) rs138171096 0.00026
NM_001258392.3(CLPB):c.889C>T (p.Arg297Trp) rs148534573 0.00026
NM_001258392.3(CLPB):c.1425C>T (p.His475=) rs756497518 0.00019
NM_001258392.3(CLPB):c.989-4G>A rs376902409 0.00019
NM_001258392.3(CLPB):c.1429C>T (p.Leu477=) rs77345581 0.00018
NM_001258392.3(CLPB):c.966C>T (p.Ser322=) rs371562971 0.00016
NM_030813.6(CLPB):c.671G>A (p.Arg224Gln) rs770932848 0.00013
NM_001258392.3(CLPB):c.1476C>T (p.Ala492=) rs139236388 0.00011
NM_001258392.3(CLPB):c.690C>T (p.Asn230=) rs200517382 0.00011
NM_001258392.3(CLPB):c.748C>G (p.Arg250Gly) rs146762466 0.00010
NM_001258392.3(CLPB):c.749G>A (p.Arg250His) rs1038447717 0.00010
NM_001258392.3(CLPB):c.776-10C>G rs141271919 0.00010
NM_001258392.3(CLPB):c.1710C>T (p.Leu570=) rs140958543 0.00009
NM_001258392.3(CLPB):c.1803G>A (p.Val601=) rs766600801 0.00009
NM_001258392.3(CLPB):c.874-7C>G rs190508223 0.00009
NM_030813.6(CLPB):c.653G>C (p.Gly218Ala) rs377766896 0.00009
NM_030813.6(CLPB):c.736+2T>C rs201350869 0.00009
NM_001258392.3(CLPB):c.1978C>T (p.Arg660Cys) rs140963713 0.00007
NM_001258392.3(CLPB):c.370G>T (p.Val124Phe) rs139361195 0.00007
NM_001258392.3(CLPB):c.610A>G (p.Lys204Glu) rs538184539 0.00007
NM_001258392.3(CLPB):c.1648G>A (p.Val550Ile) rs374032537 0.00006
NM_001258392.3(CLPB):c.1698C>T (p.Asn566=) rs199965220 0.00006
NM_001258392.3(CLPB):c.1743C>T (p.Asp581=) rs147296630 0.00006
NM_001258392.3(CLPB):c.1866G>A (p.Thr622=) rs140281600 0.00006
NM_001258392.3(CLPB):c.646+14G>C rs759587295 0.00006
NM_001258392.3(CLPB):c.844A>G (p.Met282Val) rs773028492 0.00006
NM_030813.6(CLPB):c.670C>T (p.Arg224Trp) rs149056885 0.00006
NM_030813.6(CLPB):c.735C>T (p.Gly245=) rs201151763 0.00006
NM_001258392.3(CLPB):c.1570C>T (p.Arg524Trp) rs200299650 0.00005
NM_001258392.3(CLPB):c.1994G>A (p.Arg665Gln) rs374538248 0.00005
NM_001258392.3(CLPB):c.2024A>G (p.Asn675Ser) rs767062135 0.00005
NM_001258392.3(CLPB):c.582C>T (p.Asn194=) rs200063494 0.00005
NM_001258392.3(CLPB):c.651G>C (p.Leu217=) rs375214732 0.00005
NM_001258392.3(CLPB):c.896G>A (p.Arg299His) rs547532550 0.00005
NM_030813.6(CLPB):c.660C>T (p.Asp220=) rs759358526 0.00005
NM_001258392.3(CLPB):c.1067-11T>C rs767017458 0.00004
NM_001258392.3(CLPB):c.1605C>T (p.Ile535=) rs758906536 0.00004
NM_001258392.3(CLPB):c.1979G>A (p.Arg660His) rs758613799 0.00004
NM_001258392.3(CLPB):c.361G>T (p.Ala121Ser) rs374780915 0.00004
NM_001258392.3(CLPB):c.543-20_543-18del rs759265435 0.00004
NM_001258392.3(CLPB):c.628G>A (p.Gly210Arg) rs756161923 0.00004
NM_030813.6(CLPB):c.703G>T (p.Glu235Ter) rs374473067 0.00004
NM_030813.6(CLPB):c.715T>C (p.Trp239Arg) rs746357833 0.00004
NM_001258392.3(CLPB):c.1407C>T (p.Ser469=) rs747632383 0.00003
NM_001258392.3(CLPB):c.1486+8G>A rs757824619 0.00003
NM_001258392.3(CLPB):c.1489G>T (p.Asp497Tyr) rs918777173 0.00003
NM_001258392.3(CLPB):c.1571G>A (p.Arg524Gln) rs576652298 0.00003
NM_001258392.3(CLPB):c.1786-3C>T rs372126133 0.00003
NM_001258392.3(CLPB):c.1858C>T (p.Arg620Cys) rs777140183 0.00003
NM_001258392.3(CLPB):c.1968C>T (p.Asp656=) rs757217501 0.00003
NM_001258392.3(CLPB):c.343A>C (p.Met115Leu) rs755190312 0.00003
NM_001258392.3(CLPB):c.542+15T>C rs775474060 0.00003
NM_001258392.3(CLPB):c.543-12G>C rs750871760 0.00003
NM_001258392.3(CLPB):c.646+7371C>T rs369768699 0.00003
NM_001258392.3(CLPB):c.663G>A (p.Glu221=) rs571326442 0.00003
NM_001258392.3(CLPB):c.713C>T (p.Thr238Met) rs200032855 0.00003
NM_001258392.3(CLPB):c.890G>A (p.Arg297Gln) rs762784246 0.00003
NM_001258392.3(CLPB):c.990G>A (p.Ala330=) rs765172842 0.00003
NM_001258392.3(CLPB):c.1018G>A (p.Asp340Asn) rs893057489 0.00002
NM_001258392.3(CLPB):c.1362T>A (p.Ile454=) rs547364848 0.00002
NM_001258392.3(CLPB):c.1462C>T (p.Arg488Cys) rs369380599 0.00002
NM_001258392.3(CLPB):c.1463G>A (p.Arg488His) rs760399999 0.00002
NM_001258392.3(CLPB):c.1546C>T (p.Arg516Cys) rs748289105 0.00002
NM_001258392.3(CLPB):c.1717C>T (p.Arg573Cys) rs186989806 0.00002
NM_001258392.3(CLPB):c.1718G>A (p.Arg573His) rs765245566 0.00002
NM_001258392.3(CLPB):c.1720G>A (p.Glu574Lys) rs562782058 0.00002
NM_001258392.3(CLPB):c.1786-6C>T rs191389918 0.00002
NM_001258392.3(CLPB):c.1865C>T (p.Thr622Met) rs544489365 0.00002
NM_001258392.3(CLPB):c.1940A>G (p.Lys647Arg) rs1300806807 0.00002
NM_001258392.3(CLPB):c.1946G>A (p.Arg649His) rs780563254 0.00002
NM_001258392.3(CLPB):c.347G>C (p.Cys116Ser) rs549191970 0.00002
NM_001258392.3(CLPB):c.646+7369C>T rs945679547 0.00002
NM_001258392.3(CLPB):c.692G>A (p.Arg231His) rs772243585 0.00002
NM_001258392.3(CLPB):c.694G>A (p.Ala232Thr) rs779228307 0.00002
NM_001258392.3(CLPB):c.730G>C (p.Val244Leu) rs139268876 0.00002
NM_001258392.3(CLPB):c.819G>C (p.Leu273Phe) rs368150943 0.00002
NM_001258392.3(CLPB):c.917G>A (p.Arg306His) rs753116917 0.00002
NM_001258392.3(CLPB):c.937C>G (p.Leu313Val) rs1412765277 0.00002
NM_030813.6(CLPB):c.693A>C (p.Thr231=) rs1405132536 0.00002
NM_001258392.3(CLPB):c.1003G>A (p.Glu335Lys) rs765777645 0.00001
NM_001258392.3(CLPB):c.1067-20T>C rs760060214 0.00001
NM_001258392.3(CLPB):c.1067-4C>A rs1311832888 0.00001
NM_001258392.3(CLPB):c.1102A>G (p.Met368Val) rs774761950 0.00001
NM_001258392.3(CLPB):c.1103T>C (p.Met368Thr) rs1005193912 0.00001
NM_001258392.3(CLPB):c.1361T>C (p.Ile454Thr) rs770073084 0.00001
NM_001258392.3(CLPB):c.1374C>T (p.Asp458=) rs776452795 0.00001
NM_001258392.3(CLPB):c.1375G>A (p.Ala459Thr) rs372344202 0.00001
NM_001258392.3(CLPB):c.1392C>G (p.Thr464=) rs1315933008 0.00001
NM_001258392.3(CLPB):c.1408G>A (p.Asp470Asn) rs778269139 0.00001
NM_001258392.3(CLPB):c.1411G>A (p.Glu471Lys) rs748915609 0.00001
NM_001258392.3(CLPB):c.1428G>A (p.Ala476=) rs750997439 0.00001
NM_001258392.3(CLPB):c.1461C>T (p.Ser487=) rs752870447 0.00001
NM_001258392.3(CLPB):c.1468C>T (p.Arg490Cys) rs773040549 0.00001
NM_001258392.3(CLPB):c.1469G>A (p.Arg490His) rs568455218 0.00001
NM_001258392.3(CLPB):c.1477G>A (p.Glu493Lys) rs376835047 0.00001
NM_001258392.3(CLPB):c.1486+7C>T rs781406946 0.00001
NM_001258392.3(CLPB):c.1503T>G (p.Ser501Arg) rs571871217 0.00001
NM_001258392.3(CLPB):c.1542G>A (p.Val514=) rs935570035 0.00001
NM_001258392.3(CLPB):c.1552A>C (p.Ile518Leu) rs1949516441 0.00001
NM_001258392.3(CLPB):c.1561-7C>T rs2539318535 0.00001
NM_001258392.3(CLPB):c.1598A>G (p.Asn533Ser) rs1380274922 0.00001
NM_001258392.3(CLPB):c.1606G>A (p.Val536Ile) rs776356646 0.00001
NM_001258392.3(CLPB):c.1620C>T (p.Pro540=) rs200970392 0.00001
NM_001258392.3(CLPB):c.1631C>T (p.Ser544Leu) rs1430716011 0.00001
NM_001258392.3(CLPB):c.1672G>A (p.Ala558Thr) rs780169796 0.00001
NM_001258392.3(CLPB):c.1681-14C>T rs746122828 0.00001
NM_001258392.3(CLPB):c.1681-3C>T rs374279497 0.00001
NM_001258392.3(CLPB):c.1692G>T (p.Arg564Ser) rs778761751 0.00001
NM_001258392.3(CLPB):c.1703C>T (p.Thr568Met) rs755613972 0.00001
NM_001258392.3(CLPB):c.1740C>T (p.Val580=) rs759628306 0.00001
NM_001258392.3(CLPB):c.1741G>A (p.Asp581Asn) rs776835116 0.00001
NM_001258392.3(CLPB):c.1744G>A (p.Gly582Ser) rs747198658 0.00001
NM_001258392.3(CLPB):c.1758C>G (p.His586Gln) rs2135484836 0.00001
NM_001258392.3(CLPB):c.1760A>G (p.Tyr587Cys) rs786205138 0.00001
NM_001258392.3(CLPB):c.1764C>T (p.Gly588=) rs749217568 0.00001
NM_001258392.3(CLPB):c.1765G>A (p.Ala589Thr) rs1949500581 0.00001
NM_001258392.3(CLPB):c.1777A>C (p.Lys593Gln) rs779976853 0.00001
NM_001258392.3(CLPB):c.1780C>T (p.His594Tyr) rs1442380307 0.00001
NM_001258392.3(CLPB):c.1785+13G>A rs1590752148 0.00001
NM_001258392.3(CLPB):c.1785+7A>G rs745442561 0.00001
NM_001258392.3(CLPB):c.1785+8C>T rs1446394124 0.00001
NM_001258392.3(CLPB):c.1786-5G>A rs756715990 0.00001
NM_001258392.3(CLPB):c.1799T>C (p.Val600Ala) rs754351263 0.00001
NM_001258392.3(CLPB):c.1823A>G (p.Tyr608Cys) rs924628232 0.00001
NM_001258392.3(CLPB):c.1840C>G (p.Pro614Ala) rs1331493457 0.00001
NM_001258392.3(CLPB):c.1844G>T (p.Gly615Val) rs1247332355 0.00001
NM_001258392.3(CLPB):c.1890A>G (p.Leu630=) rs765019394 0.00001
NM_001258392.3(CLPB):c.1930C>T (p.Arg644Cys) rs747869174 0.00001
NM_001258392.3(CLPB):c.1937C>G (p.Pro646Arg) rs201668123 0.00001
NM_001258392.3(CLPB):c.1945C>T (p.Arg649Cys) rs749731250 0.00001
NM_001258392.3(CLPB):c.1969A>T (p.Ser657Cys) rs1254521420 0.00001
NM_001258392.3(CLPB):c.1995G>T (p.Arg665=) rs894319387 0.00001
NM_001258392.3(CLPB):c.2021G>A (p.Cys674Tyr) rs372096809 0.00001
NM_001258392.3(CLPB):c.328A>G (p.Arg110Gly) rs773570139 0.00001
NM_001258392.3(CLPB):c.341G>A (p.Gly114Asp) rs138293139 0.00001
NM_001258392.3(CLPB):c.352C>T (p.Leu118=) rs545165153 0.00001
NM_001258392.3(CLPB):c.356C>G (p.Ala119Gly) rs1191592329 0.00001
NM_001258392.3(CLPB):c.359C>G (p.Ala120Gly) rs1565107812 0.00001
NM_001258392.3(CLPB):c.367G>C (p.Val123Leu) rs141495575 0.00001
NM_001258392.3(CLPB):c.395C>T (p.Ser132Phe) rs200453658 0.00001
NM_001258392.3(CLPB):c.403+14C>T rs1340669748 0.00001
NM_001258392.3(CLPB):c.403+15T>G rs774628549 0.00001
NM_001258392.3(CLPB):c.404-14C>T rs769850264 0.00001
NM_001258392.3(CLPB):c.409G>T (p.Ala137Ser) rs1323542690 0.00001
NM_001258392.3(CLPB):c.447A>G (p.Glu149=) rs1856508277 0.00001
NM_001258392.3(CLPB):c.452G>A (p.Ser151Asn) rs1856507870 0.00001
NM_001258392.3(CLPB):c.456-3T>A rs751918724 0.00001
NM_001258392.3(CLPB):c.491A>C (p.His164Pro) rs759610125 0.00001
NM_001258392.3(CLPB):c.517G>A (p.Val173Met) rs1296900809 0.00001
NM_001258392.3(CLPB):c.531C>T (p.Asn177=) rs771786059 0.00001
NM_001258392.3(CLPB):c.532C>T (p.Arg178Ter) rs774185980 0.00001
NM_001258392.3(CLPB):c.533G>A (p.Arg178Gln) rs150404541 0.00001
NM_001258392.3(CLPB):c.538A>G (p.Asn180Asp) rs768489564 0.00001
NM_001258392.3(CLPB):c.542+13C>A rs1431347804 0.00001
NM_001258392.3(CLPB):c.599G>A (p.Ser200Asn) rs1393780715 0.00001
NM_001258392.3(CLPB):c.638C>G (p.Ser213Cys) rs767714428 0.00001
NM_001258392.3(CLPB):c.646+13T>C rs370275901 0.00001
NM_001258392.3(CLPB):c.646+7375A>G rs767103006 0.00001
NM_001258392.3(CLPB):c.647-6C>T rs1377454533 0.00001
NM_001258392.3(CLPB):c.665A>G (p.Asp222Gly) rs747534297 0.00001
NM_001258392.3(CLPB):c.751A>G (p.Thr251Ala) rs754211386 0.00001
NM_001258392.3(CLPB):c.757A>G (p.Lys253Glu) rs766759416 0.00001
NM_001258392.3(CLPB):c.758A>G (p.Lys253Arg) rs761122843 0.00001
NM_001258392.3(CLPB):c.766C>T (p.Leu256Phe) rs774718370 0.00001
NM_001258392.3(CLPB):c.771T>C (p.Asp257=) rs143460015 0.00001
NM_001258392.3(CLPB):c.775+13G>A rs746972083 0.00001
NM_001258392.3(CLPB):c.776-13C>A rs1157895638 0.00001
NM_001258392.3(CLPB):c.776-5G>T rs1253919639 0.00001
NM_001258392.3(CLPB):c.776G>A (p.Gly259Glu) rs543347319 0.00001
NM_001258392.3(CLPB):c.784C>A (p.Pro262Thr) rs754484869 0.00001
NM_001258392.3(CLPB):c.817T>C (p.Leu273=) rs1950189871 0.00001
NM_001258392.3(CLPB):c.839A>C (p.Glu280Ala) rs763049720 0.00001
NM_001258392.3(CLPB):c.849G>A (p.Lys283=) rs759743960 0.00001
NM_001258392.3(CLPB):c.873+12G>A rs199805574 0.00001
NM_001258392.3(CLPB):c.886C>G (p.Gln296Glu) rs1172064600 0.00001
NM_001258392.3(CLPB):c.897T>G (p.Arg299=) rs1949960924 0.00001
NM_001258392.3(CLPB):c.910C>T (p.Arg304Trp) rs747344641 0.00001
NM_001258392.3(CLPB):c.914G>A (p.Arg305His) rs529206633 0.00001
NM_001258392.3(CLPB):c.916C>T (p.Arg306Cys) rs1199370784 0.00001
NM_001258392.3(CLPB):c.921C>T (p.Phe307=) rs561993207 0.00001
NM_001258392.3(CLPB):c.934C>T (p.Arg312Ter) rs185461628 0.00001
NM_001258392.3(CLPB):c.935G>A (p.Arg312Gln) rs751427024 0.00001
NM_001258392.3(CLPB):c.942G>A (p.Lys314=) rs763790408 0.00001
NM_001258392.3(CLPB):c.967G>A (p.Ala323Thr) rs759050719 0.00001
NM_001258392.3(CLPB):c.972C>T (p.Ile324=) rs200459120 0.00001
NM_001258392.3(CLPB):c.973G>A (p.Ala325Thr) rs149408757 0.00001
NM_001258392.3(CLPB):c.995G>A (p.Arg332Gln) rs759536311 0.00001
NM_030813.6(CLPB):c.666A>C (p.Ala222=) rs766350201 0.00001
NM_030813.6(CLPB):c.688T>C (p.Trp230Arg) rs749611577 0.00001
NM_030813.6(CLPB):c.690G>A (p.Trp230Ter) rs780554501 0.00001
NM_030813.6(CLPB):c.729C>T (p.Pro243=) rs757266658 0.00001
NM_030813.6(CLPB):c.736G>A (p.Val246Ile) rs754823092 0.00001
NC_000011.10:g.(?_72372905)_(72380404_?)del
NC_000011.9:g.(?_72004411)_(72006712_?)del
NC_000011.9:g.(?_72083949)_(72084078_?)del
NC_000011.9:g.(?_72083996)_(72087051_?)del
NC_000011.9:g.(?_72141336)_(72145518_?)dup
NC_000011.9:g.(?_72145096)_(72145518_?)del
NC_000011.9:g.(?_72145398)_(72145517_?)del
NC_000011.9:g.(?_72145398)_(72150823_?)del
NM_001258392.3(CLPB):c.1008T>G (p.Asn336Lys) rs2135512797
NM_001258392.3(CLPB):c.1017C>G (p.Tyr339Ter) rs772512727
NM_001258392.3(CLPB):c.1024G>A (p.Glu342Lys) rs2539367766
NM_001258392.3(CLPB):c.1027C>T (p.His343Tyr) rs1590773522
NM_001258392.3(CLPB):c.1033C>T (p.Leu345=) rs1949786030
NM_001258392.3(CLPB):c.1047C>T (p.Phe349=) rs2539367529
NM_001258392.3(CLPB):c.1053A>G (p.Gly351=) rs1949785389
NM_001258392.3(CLPB):c.1063A>C (p.Ile355Leu)
NM_001258392.3(CLPB):c.1066+1G>A rs1555087619
NM_001258392.3(CLPB):c.1066+9del rs1204558796
NM_001258392.3(CLPB):c.1067-20T>A rs760060214
NM_001258392.3(CLPB):c.1067-3T>C rs2539362610
NM_001258392.3(CLPB):c.1067-9T>C rs372848873
NM_001258392.3(CLPB):c.1094C>A (p.Ala365Asp) rs2539362479
NM_001258392.3(CLPB):c.1122+11G>A rs749842069
NM_001258392.3(CLPB):c.1122+16T>G rs187846751
NM_001258392.3(CLPB):c.1341_1344del (p.Asp448fs) rs2539323563
NM_001258392.3(CLPB):c.1353G>T (p.Gly451=)
NM_001258392.3(CLPB):c.1366T>C (p.Cys456Arg) rs886041118
NM_001258392.3(CLPB):c.1371G>A (p.Lys457=) rs763083462
NM_001258392.3(CLPB):c.1378A>G (p.Ile460Val)
NM_001258392.3(CLPB):c.1398T>C (p.Asn466=)
NM_001258392.3(CLPB):c.1409A>G (p.Asp470Gly) rs1365431764
NM_001258392.3(CLPB):c.1413G>C (p.Glu471Asp) rs780612425
NM_001258392.3(CLPB):c.1416C>T (p.Ile472=) rs1949536469
NM_001258392.3(CLPB):c.1417G>A (p.Ala473Thr) rs1022728092
NM_001258392.3(CLPB):c.1427C>A (p.Ala476Glu) rs2135487981
NM_001258392.3(CLPB):c.1431G>A (p.Leu477=)
NM_001258392.3(CLPB):c.1440G>A (p.Arg480=) rs1447516811
NM_001258392.3(CLPB):c.1453G>A (p.Glu485Lys) rs143522576
NM_001258392.3(CLPB):c.1457T>C (p.Met486Thr)
NM_001258392.3(CLPB):c.1467C>T (p.Asn489=)
NM_001258392.3(CLPB):c.1474_1475delinsTG (p.Ala492Cys) rs1555085159
NM_001258392.3(CLPB):c.1482C>G (p.Asn494Lys) rs779812366
NM_001258392.3(CLPB):c.1484T>C (p.Leu495Pro) rs770287487
NM_001258392.3(CLPB):c.1485G>A (p.Leu495=) rs1949534031
NM_001258392.3(CLPB):c.1486+6G>A
NM_001258392.3(CLPB):c.1486+6del
NM_001258392.3(CLPB):c.1487-17_1487-16del rs2539319862
NM_001258392.3(CLPB):c.1487-6C>T
NM_001258392.3(CLPB):c.1489G>A (p.Asp497Asn) rs918777173
NM_001258392.3(CLPB):c.1489G>C (p.Asp497His) rs918777173
NM_001258392.3(CLPB):c.1492G>A (p.Val498Ile) rs2135486440
NM_001258392.3(CLPB):c.1495C>A (p.Gln499Lys) rs1476481385
NM_001258392.3(CLPB):c.1497G>C (p.Gln499His) rs577566573
NM_001258392.3(CLPB):c.1514C>G (p.Thr505Ser) rs200812003
NM_001258392.3(CLPB):c.1514C>T (p.Thr505Ile) rs200812003
NM_001258392.3(CLPB):c.1530C>G (p.Phe510Leu) rs778078736
NM_001258392.3(CLPB):c.1548C>T (p.Arg516=) rs2539319492
NM_001258392.3(CLPB):c.1552A>G (p.Ile518Val) rs1949516441
NM_001258392.3(CLPB):c.1557G>A (p.Leu519=)
NM_001258392.3(CLPB):c.1560+19C>T rs2539319215
NM_001258392.3(CLPB):c.1560+2_1560+5del rs1242832482
NM_001258392.3(CLPB):c.1560+7G>A
NM_001258392.3(CLPB):c.1561-11_1561-10delinsCT
NM_001258392.3(CLPB):c.1561-12C>G rs1835507515
NM_001258392.3(CLPB):c.1561-18C>G
NM_001258392.3(CLPB):c.1561-18_1561-12del rs1166987571
NM_001258392.3(CLPB):c.1561-20C>T rs2539318624
NM_001258392.3(CLPB):c.1574G>A (p.Arg525Lys) rs2539318423
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.1588G>A (p.Gly530Arg) rs2135485868
NM_001258392.3(CLPB):c.1591C>T (p.Arg531Trp) rs1949512456
NM_001258392.3(CLPB):c.1592G>A (p.Arg531Gln) rs1590753221
NM_001258392.3(CLPB):c.1595del (p.Ile532fs) rs876657402
NM_001258392.3(CLPB):c.1610A>C (p.Tyr537Ser) rs150857620
NM_001258392.3(CLPB):c.1610A>G (p.Tyr537Cys) rs150857620
NM_001258392.3(CLPB):c.1610A>T (p.Tyr537Phe) rs150857620
NM_001258392.3(CLPB):c.1623C>G (p.Phe541Leu)
NM_001258392.3(CLPB):c.1623C>T (p.Phe541=) rs2539318105
NM_001258392.3(CLPB):c.1631C>G (p.Ser544Trp) rs1430716011
NM_001258392.3(CLPB):c.1632G>A (p.Ser544=) rs2539318077
NM_001258392.3(CLPB):c.1640T>C (p.Ile547Thr) rs2539318051
NM_001258392.3(CLPB):c.1644A>G (p.Gln548=) rs1949510719
NM_001258392.3(CLPB):c.1647C>T (p.Leu549=)
NM_001258392.3(CLPB):c.1666T>A (p.Phe556Ile) rs1949509947
NM_001258392.3(CLPB):c.1666T>C (p.Phe556Leu)
NM_001258392.3(CLPB):c.1677G>T (p.Lys559Asn) rs2135485638
NM_001258392.3(CLPB):c.1680+18A>G
NM_001258392.3(CLPB):c.1680+2dup rs2539317784
NM_001258392.3(CLPB):c.1680+6A>C rs1949509457
NM_001258392.3(CLPB):c.1680+9G>A rs2539317750
NM_001258392.3(CLPB):c.1681-17T>C rs2539316826
NM_001258392.3(CLPB):c.1681-1G>A rs2539316753
NM_001258392.3(CLPB):c.1682C>T (p.Ala561Val) rs748010262
NM_001258392.3(CLPB):c.1687C>A (p.Gln563Lys)
NM_001258392.3(CLPB):c.1718G>C (p.Arg573Pro) rs765245566
NM_001258392.3(CLPB):c.1727C>G (p.Ala576Gly) rs765234416
NM_001258392.3(CLPB):c.1750A>G (p.Asn584Asp) rs2539316252
NM_001258392.3(CLPB):c.1751A>G (p.Asn584Ser)
NM_001258392.3(CLPB):c.1768C>T (p.Arg590Cys) rs2135484821
NM_001258392.3(CLPB):c.1785+18A>C
NM_001258392.3(CLPB):c.1786-14C>T
NM_001258392.3(CLPB):c.1786-7C>A
NM_001258392.3(CLPB):c.1787T>C (p.Val596Ala)
NM_001258392.3(CLPB):c.1795C>A (p.Arg599Ser) rs369227883
NM_001258392.3(CLPB):c.1795C>T (p.Arg599Cys) rs369227883
NM_001258392.3(CLPB):c.1812G>A (p.Leu604=)
NM_001258392.3(CLPB):c.1813_1814delinsAA (p.Ala605Lys) rs2539314305
NM_001258392.3(CLPB):c.1817C>T (p.Ala606Val) rs760773250
NM_001258392.3(CLPB):c.1825G>A (p.Glu609Lys) rs375934856
NM_001258392.3(CLPB):c.1832A>T (p.Asp611Val) rs767839493
NM_001258392.3(CLPB):c.1833C>T (p.Asp611=)
NM_001258392.3(CLPB):c.1836G>T (p.Leu612=) rs2539314110
NM_001258392.3(CLPB):c.1843G>A (p.Gly615Arg)
NM_001258392.3(CLPB):c.1847G>C (p.Gly616Ala) rs759500860
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.1861A>G (p.Ile621Val) rs755357754
NM_001258392.3(CLPB):c.1870G>C (p.Glu624Gln) rs1949489503
NM_001258392.3(CLPB):c.1897A>G (p.Ser633Gly)
NM_001258392.3(CLPB):c.1902A>C (p.Pro634=) rs776395544
NM_001258392.3(CLPB):c.1902A>G (p.Pro634=) rs776395544
NM_001258392.3(CLPB):c.1908G>A (p.Leu636=) rs2135483654
NM_001258392.3(CLPB):c.1909C>T (p.Pro637Ser) rs2539313320
NM_001258392.3(CLPB):c.1910C>G (p.Pro637Arg) rs760495960
NM_001258392.3(CLPB):c.1920G>A (p.Gln640=) rs749905039
NM_001258392.3(CLPB):c.1920G>C (p.Gln640His) rs749905039
NM_001258392.3(CLPB):c.1931G>A (p.Arg644His) rs974000691
NM_001258392.3(CLPB):c.1955T>A (p.Ile652Asn) rs886041120
NM_001258392.3(CLPB):c.1957A>G (p.Ile653Val)
NM_001258392.3(CLPB):c.1959C>G (p.Ile653Met) rs200471243
NM_001258392.3(CLPB):c.1959C>T (p.Ile653=) rs200471243
NM_001258392.3(CLPB):c.1960G>A (p.Asp654Asn) rs781355066
NM_001258392.3(CLPB):c.1972A>G (p.Lys658Glu) rs2539312775
NM_001258392.3(CLPB):c.1976C>G (p.Thr659Ser) rs1483881385
NM_001258392.3(CLPB):c.1981A>G (p.Arg661Gly) rs2135483452
NM_001258392.3(CLPB):c.2007C>A (p.His669Gln)
NM_001258392.3(CLPB):c.2009_2010del (p.Pro670fs) rs2539312407
NM_001258392.3(CLPB):c.2021G>T (p.Cys674Phe) rs372096809
NM_001258392.3(CLPB):c.2023_*4del (p.Asn675fs) rs1362604874
NM_001258392.3(CLPB):c.2028C>T (p.Thr676=) rs2135483266
NM_001258392.3(CLPB):c.2033A>G (p.Ter678Trp) rs1949484806
NM_001258392.3(CLPB):c.2034del (p.Ter678TyrextTer?) rs1474136193
NM_001258392.3(CLPB):c.325A>G (p.Ser109Gly) rs1856636073
NM_001258392.3(CLPB):c.340G>A (p.Gly114Ser)
NM_001258392.3(CLPB):c.343A>G (p.Met115Val) rs755190312
NM_001258392.3(CLPB):c.350C>T (p.Ala117Val) rs563749368
NM_001258392.3(CLPB):c.354_355delinsCT (p.Ala119Ser) rs2496012012
NM_001258392.3(CLPB):c.361G>A (p.Ala121Thr) rs374780915
NM_001258392.3(CLPB):c.369G>T (p.Val123=) rs759253376
NM_001258392.3(CLPB):c.373C>G (p.His125Asp) rs1298914031
NM_001258392.3(CLPB):c.374A>G (p.His125Arg) rs758749063
NM_001258392.3(CLPB):c.375T>C (p.His125=)
NM_001258392.3(CLPB):c.378C>T (p.Cys126=) rs2496011477
NM_001258392.3(CLPB):c.380A>G (p.Tyr127Cys) rs2496011431
NM_001258392.3(CLPB):c.384C>A (p.Ser128Arg) rs745934487
NM_001258392.3(CLPB):c.391C>A (p.Pro131Thr) rs760899447
NM_001258392.3(CLPB):c.393G>A (p.Pro131=) rs1856631048
NM_001258392.3(CLPB):c.403+13T>G rs1856629305
NM_001258392.3(CLPB):c.403+6T>C rs944669671
NM_001258392.3(CLPB):c.403+7_403+8del rs754849241
NM_001258392.3(CLPB):c.403G>A (p.Asp135Asn) rs1252271527
NM_001258392.3(CLPB):c.404-12dup rs2495983701
NM_001258392.3(CLPB):c.404-15C>G rs2495983752
NM_001258392.3(CLPB):c.404-17G>A rs1856510321
NM_001258392.3(CLPB):c.404-17G>C rs1856510321
NM_001258392.3(CLPB):c.406G>A (p.Ala136Thr) rs2495983553
NM_001258392.3(CLPB):c.413T>C (p.Leu138Pro) rs1384482038
NM_001258392.3(CLPB):c.419A>C (p.Glu140Ala) rs2495983408
NM_001258392.3(CLPB):c.422C>T (p.Ala141Val) rs1219520636
NM_001258392.3(CLPB):c.427C>A (p.Arg143Ser) rs777497295
NM_001258392.3(CLPB):c.427C>T (p.Arg143Cys)
NM_001258392.3(CLPB):c.428G>A (p.Arg143His) rs1460448899
NM_001258392.3(CLPB):c.449_451delinsAATAT (p.Val150fs) rs1856508068
NM_001258392.3(CLPB):c.450C>A (p.Val150=) rs2135168122
NM_001258392.3(CLPB):c.451A>G (p.Ser151Gly) rs1158267788
NM_001258392.3(CLPB):c.455+1G>A rs1856507751
NM_001258392.3(CLPB):c.455G>A (p.Arg152Lys) rs2495982795
NM_001258392.3(CLPB):c.456-5T>C
NM_001258392.3(CLPB):c.456-99GCCATACACTGAAAATATTCCTCTGTCTTGTTTTAGGCTGTTGTCAGAAGGTGCAGATGTCAA[4]
NM_001258392.3(CLPB):c.491A>G (p.His164Arg) rs759610125
NM_001258392.3(CLPB):c.497T>G (p.Leu166Arg) rs2135083426
NM_001258392.3(CLPB):c.506C>T (p.Thr169Ile) rs2495802686
NM_001258392.3(CLPB):c.513C>G (p.Leu171=) rs1017640223
NM_001258392.3(CLPB):c.513C>T (p.Leu171=) rs1017640223
NM_001258392.3(CLPB):c.514A>G (p.Met172Val)
NM_001258392.3(CLPB):c.527T>C (p.Ile176Thr)
NM_001258392.3(CLPB):c.528C>A (p.Ile176=) rs766521266
NM_001258392.3(CLPB):c.539A>G (p.Asn180Ser) rs749221378
NM_001258392.3(CLPB):c.542+18A>G rs769221555
NM_001258392.3(CLPB):c.543-14G>T
NM_001258392.3(CLPB):c.543-1G>A
NM_001258392.3(CLPB):c.546G>A (p.Val182=) rs1854871823
NM_001258392.3(CLPB):c.547G>A (p.Val183Ile) rs769716909
NM_001258392.3(CLPB):c.553G>C (p.Val185Leu) rs745791300
NM_001258392.3(CLPB):c.555C>T (p.Val185=) rs770534948
NM_001258392.3(CLPB):c.573T>C (p.Ala191=)
NM_001258392.3(CLPB):c.577C>A (p.Pro193Thr)
NM_001258392.3(CLPB):c.578C>T (p.Pro193Leu) rs2135677270
NM_001258392.3(CLPB):c.611A>G (p.Lys204Arg)
NM_001258392.3(CLPB):c.646+3A>G
NM_001258392.3(CLPB):c.646+7247C>T rs1951073773
NM_001258392.3(CLPB):c.646+7250C>T
NM_001258392.3(CLPB):c.646+7257G>A rs2495627322
NM_001258392.3(CLPB):c.646+7367del rs1951069808
NM_001258392.3(CLPB):c.646+7372T>C rs2495626212
NM_001258392.3(CLPB):c.646+7G>A rs1854866433
NM_001258392.3(CLPB):c.647-10G>A rs2135614152
NM_001258392.3(CLPB):c.647-5C>G
NM_001258392.3(CLPB):c.654C>T (p.Ile218=) rs1950781336
NM_001258392.3(CLPB):c.658C>T (p.Arg220Ter) rs777202372
NM_001258392.3(CLPB):c.659G>A (p.Arg220Gln)
NM_001258392.3(CLPB):c.666T>A (p.Asp222Glu)
NM_001258392.3(CLPB):c.669C>T (p.Asp223=) rs1347411673
NM_001258392.3(CLPB):c.680G>T (p.Arg227Met) rs1284671735
NM_001258392.3(CLPB):c.689A>T (p.Asn230Ile) rs2495562819
NM_001258392.3(CLPB):c.694G>C (p.Ala232Pro) rs779228307
NM_001258392.3(CLPB):c.709T>G (p.Cys237Gly) rs2495562570
NM_001258392.3(CLPB):c.714G>A (p.Thr238=)
NM_001258392.3(CLPB):c.715G>A (p.Ala239Thr) rs886041117
NM_001258392.3(CLPB):c.725A>G (p.Tyr242Cys) rs777313457
NM_001258392.3(CLPB):c.733C>G (p.Leu245Val) rs752382011
NM_001258392.3(CLPB):c.748C>T (p.Arg250Cys) rs146762466
NM_001258392.3(CLPB):c.749G>T (p.Arg250Leu)
NM_001258392.3(CLPB):c.759G>A (p.Lys253=) rs2495562007
NM_001258392.3(CLPB):c.760_761inv (p.Glu254Ser)
NM_001258392.3(CLPB):c.764T>C (p.Leu255Pro) rs1555098495
NM_001258392.3(CLPB):c.775+14T>C rs777652104
NM_001258392.3(CLPB):c.775+1G>A rs2495561761
NM_001258392.3(CLPB):c.775+8C>T
NM_001258392.3(CLPB):c.776-10C>A rs141271919
NM_001258392.3(CLPB):c.776-17C>T rs2135549983
NM_001258392.3(CLPB):c.780C>T (p.Ala260=) rs1950192046
NM_001258392.3(CLPB):c.782A>G (p.Asn261Ser) rs778324114
NM_001258392.3(CLPB):c.782A>T (p.Asn261Ile) rs778324114
NM_001258392.3(CLPB):c.784C>T (p.Pro262Ser)
NM_001258392.3(CLPB):c.787del (p.Leu263fs)
NM_001258392.3(CLPB):c.790C>T (p.Gln264Ter) rs748911107
NM_001258392.3(CLPB):c.795G>A (p.Arg265=) rs750757176
NM_001258392.3(CLPB):c.806G>T (p.Gly269Val) rs1390365704
NM_001258392.3(CLPB):c.812C>G (p.Thr271Arg) rs757880862
NM_001258392.3(CLPB):c.816C>T (p.Pro272=) rs913055049
NM_001258392.3(CLPB):c.830G>A (p.Arg277Gln)
NM_001258392.3(CLPB):c.837G>A (p.Gly279=) rs2135549683
NM_001258392.3(CLPB):c.843G>A (p.Val281=) rs2135549653
NM_001258392.3(CLPB):c.850C>T (p.Leu284Phe) rs2539438048
NM_001258392.3(CLPB):c.860C>T (p.Thr287Ile) rs1318523407
NM_001258392.3(CLPB):c.871A>T (p.Lys291Ter) rs786205139
NM_001258392.3(CLPB):c.873+1G>A rs974377052
NM_001258392.3(CLPB):c.873+7C>T
NM_001258392.3(CLPB):c.874-10C>G rs767318630
NM_001258392.3(CLPB):c.877C>A (p.Gln293Lys) rs1949961706
NM_001258392.3(CLPB):c.896G>C (p.Arg299Pro) rs547532550
NM_001258392.3(CLPB):c.896G>T (p.Arg299Leu) rs547532550
NM_001258392.3(CLPB):c.905A>C (p.Glu302Ala)
NM_001258392.3(CLPB):c.905A>G (p.Glu302Gly) rs745539947
NM_001258392.3(CLPB):c.908A>G (p.Glu303Gly) rs144712077
NM_001258392.3(CLPB):c.908A>T (p.Glu303Val) rs144712077
NM_001258392.3(CLPB):c.909G>A (p.Glu303=) rs2539393809
NM_001258392.3(CLPB):c.911G>A (p.Arg304Gln)
NM_001258392.3(CLPB):c.925C>G (p.Leu309Val) rs941057831
NM_001258392.3(CLPB):c.949A>G (p.Ile317Val) rs1590786067
NM_001258392.3(CLPB):c.967G>T (p.Ala323Ser) rs759050719
NM_001258392.3(CLPB):c.970A>G (p.Ile324Val)
NM_001258392.3(CLPB):c.971T>A (p.Ile324Asn) rs2539393355
NM_001258392.3(CLPB):c.983G>A (p.Gly328Asp) rs1565433670
NM_001258392.3(CLPB):c.988+14A>T rs2135527417
NM_001258392.3(CLPB):c.988+16A>G rs2539393158
NM_001258392.3(CLPB):c.988G>A (p.Ala330Thr) rs2135527446
NM_001258392.3(CLPB):c.989-5C>T
NM_001258392.3(CLPB):c.989C>G (p.Ala330Gly) rs144942416
NM_001258392.3(CLPB):c.992T>C (p.Ile331Thr) rs2135512844
NM_030813.6(CLPB):c.651G>C (p.Gly217=) rs781119779
NM_030813.6(CLPB):c.652G>A (p.Gly218Arg)
NM_030813.6(CLPB):c.654dup (p.Gln219fs) rs1951072912
NM_030813.6(CLPB):c.675C>A (p.His225Gln) rs2135658006
NM_030813.6(CLPB):c.675C>T (p.His225=) rs2135658006
NM_030813.6(CLPB):c.679A>G (p.Thr227Ala)
NM_030813.6(CLPB):c.687G>C (p.Gln229His)
NM_030813.6(CLPB):c.705G>A (p.Glu235=) rs2135657829

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.