ClinVar Miner

List of variants reported as likely benign for 3-methylglutaconic aciduria, type VIIB

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 201
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HGVS dbSNP gnomAD frequency
NM_030813.6(CLPB):c.668G>A (p.Ser223Asn) rs143097446 0.00471
NM_001258392.3(CLPB):c.1796G>A (p.Arg599His) rs149463053 0.00151
NM_001258392.3(CLPB):c.1253A>G (p.Asn418Ser) rs116118397 0.00110
NM_001258392.3(CLPB):c.212G>C (p.Gly71Ala) rs146099754 0.00096
NM_001258392.3(CLPB):c.1560+11T>C rs113954132 0.00049
NM_001258392.3(CLPB):c.723C>T (p.His241=) rs368930954 0.00048
NM_001258392.3(CLPB):c.455+8G>C rs200993434 0.00044
NM_001258392.3(CLPB):c.159G>A (p.Gly53=) rs146260335 0.00040
NM_001258392.3(CLPB):c.1287C>T (p.Ala429=) rs143482511 0.00039
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.1164C>T (p.His388=) rs202009794 0.00031
NM_001258392.3(CLPB):c.1704G>A (p.Thr568=) rs141458508 0.00031
NM_001258392.3(CLPB):c.619A>G (p.Lys207Glu) rs146588273 0.00029
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.2024A>G (p.Asn675Ser) rs767062135 0.00023
NM_001258392.3(CLPB):c.189C>G (p.Phe63Leu) rs141970893 0.00020
NM_001258392.3(CLPB):c.1425C>T (p.His475=) rs756497518 0.00019
NM_001258392.3(CLPB):c.966C>T (p.Ser322=) rs371562971 0.00018
NM_030813.6(CLPB):c.671G>A (p.Arg224Gln) rs770932848 0.00014
NM_001258392.3(CLPB):c.1476C>T (p.Ala492=) rs139236388 0.00011
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_030813.6(CLPB):c.736+2T>C rs201350869 0.00009
NM_001258392.3(CLPB):c.921C>T (p.Phe307=) rs561993207 0.00007
NM_001258392.3(CLPB):c.1140C>T (p.Asp380=) rs200950385 0.00006
NM_001258392.3(CLPB):c.1146C>T (p.Ser382=) rs377372785 0.00006
NM_001258392.3(CLPB):c.1743C>T (p.Asp581=) rs147296630 0.00006
NM_001258392.3(CLPB):c.1362T>A (p.Ile454=) rs547364848 0.00005
NM_001258392.3(CLPB):c.1698C>T (p.Asn566=) rs199965220 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_030813.6(CLPB):c.660C>T (p.Asp220=) rs759358526 0.00005
NM_001258392.3(CLPB):c.1236G>A (p.Lys412=) rs538912422 0.00004
NM_001258392.3(CLPB):c.1605C>T (p.Ile535=) rs758906536 0.00004
NM_001258392.3(CLPB):c.543-20_543-18del rs759265435 0.00004
NM_001258392.3(CLPB):c.646+7371C>T rs369768699 0.00004
NM_001258392.3(CLPB):c.105G>T (p.Arg35=) rs1336037926 0.00003
NM_001258392.3(CLPB):c.246C>T (p.Cys82=) rs1004490311 0.00003
NM_001258392.3(CLPB):c.249C>T (p.Leu83=) rs200845330 0.00003
NM_001258392.3(CLPB):c.543-12G>C rs750871760 0.00003
NM_001258392.3(CLPB):c.990G>A (p.Ala330=) rs765172842 0.00003
NM_001258392.3(CLPB):c.1786-6C>T rs191389918 0.00002
NM_001258392.3(CLPB):c.1067-4C>A rs1311832888 0.00001
NM_001258392.3(CLPB):c.1123-14T>C rs761493633 0.00001
NM_001258392.3(CLPB):c.1200C>T (p.Tyr400=) rs536717344 0.00001
NM_001258392.3(CLPB):c.1312C>T (p.Leu438=) rs539751194 0.00001
NM_001258392.3(CLPB):c.1374C>T (p.Asp458=) rs776452795 0.00001
NM_001258392.3(CLPB):c.1392C>G (p.Thr464=) rs1315933008 0.00001
NM_001258392.3(CLPB):c.1407C>T (p.Ser469=) rs747632383 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.1503T>G (p.Ser501Arg) rs571871217 0.00001
NM_001258392.3(CLPB):c.1542G>A (p.Val514=) rs935570035 0.00001
NM_001258392.3(CLPB):c.1581G>A (p.Glu527=) rs752634197 0.00001
NM_001258392.3(CLPB):c.1620C>T (p.Pro540=) rs200970392 0.00001
NM_001258392.3(CLPB):c.1681-14C>T rs746122828 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.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.1968C>T (p.Asp656=) rs757217501 0.00001
NM_001258392.3(CLPB):c.1995G>T (p.Arg665=) rs894319387 0.00001
NM_001258392.3(CLPB):c.261T>C (p.Thr87=) rs1427118335 0.00001
NM_001258392.3(CLPB):c.39G>A (p.Ala13=) rs572605602 0.00001
NM_001258392.3(CLPB):c.531C>T (p.Asn177=) rs771786059 0.00001
NM_001258392.3(CLPB):c.57G>C (p.Arg19=) rs112362953 0.00001
NM_001258392.3(CLPB):c.58C>T (p.Leu20=) rs150558227 0.00001
NM_001258392.3(CLPB):c.646+13T>C rs370275901 0.00001
NM_001258392.3(CLPB):c.647-6C>T rs1377454533 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.817T>C (p.Leu273=) rs1950189871 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.1033C>T (p.Leu345=) rs1949786030
NM_001258392.3(CLPB):c.103C>A (p.Arg35=)
NM_001258392.3(CLPB):c.1047C>T (p.Phe349=)
NM_001258392.3(CLPB):c.1053A>G (p.Gly351=) rs1949785389
NM_001258392.3(CLPB):c.1066+9del rs1204558796
NM_001258392.3(CLPB):c.1067-11T>C
NM_001258392.3(CLPB):c.1067-20T>A
NM_001258392.3(CLPB):c.1067-20T>C
NM_001258392.3(CLPB):c.1067-9T>C rs372848873
NM_001258392.3(CLPB):c.1122+11G>A
NM_001258392.3(CLPB):c.1122+16T>G
NM_001258392.3(CLPB):c.1123-13T>C
NM_001258392.3(CLPB):c.1123-18T>C
NM_001258392.3(CLPB):c.1132A>T (p.Arg378Trp)
NM_001258392.3(CLPB):c.1134G>A (p.Arg378=) rs890501416
NM_001258392.3(CLPB):c.1137G>A (p.Leu379=) rs267603176
NM_001258392.3(CLPB):c.114T>C (p.Thr38=) rs1590948323
NM_001258392.3(CLPB):c.1167+10G>A
NM_001258392.3(CLPB):c.1167+9T>C
NM_001258392.3(CLPB):c.1168-9T>C rs979851122
NM_001258392.3(CLPB):c.1230C>T (p.Thr410=)
NM_001258392.3(CLPB):c.1245G>A (p.Gln415=)
NM_001258392.3(CLPB):c.1275A>G (p.Glu425=)
NM_001258392.3(CLPB):c.1299G>C (p.Val433=)
NM_001258392.3(CLPB):c.1320G>A (p.Leu440=) rs146721061
NM_001258392.3(CLPB):c.1371G>A (p.Lys457=)
NM_001258392.3(CLPB):c.1416C>T (p.Ile472=) rs1949536469
NM_001258392.3(CLPB):c.1440G>A (p.Arg480=)
NM_001258392.3(CLPB):c.1474_1475delinsTG (p.Ala492Cys) rs1555085159
NM_001258392.3(CLPB):c.1486+7C>T
NM_001258392.3(CLPB):c.1486+8G>A
NM_001258392.3(CLPB):c.1487-17_1487-16del
NM_001258392.3(CLPB):c.1548C>T (p.Arg516=)
NM_001258392.3(CLPB):c.1560+19C>T
NM_001258392.3(CLPB):c.1561-12C>G
NM_001258392.3(CLPB):c.1561-18_1561-12del rs1166987571
NM_001258392.3(CLPB):c.1561-20C>T
NM_001258392.3(CLPB):c.1561-7C>T
NM_001258392.3(CLPB):c.1623C>T (p.Phe541=)
NM_001258392.3(CLPB):c.1644A>G (p.Gln548=) rs1949510719
NM_001258392.3(CLPB):c.1680+9G>A
NM_001258392.3(CLPB):c.1681-17T>C
NM_001258392.3(CLPB):c.174A>G (p.Thr58=)
NM_001258392.3(CLPB):c.1764C>T (p.Gly588=)
NM_001258392.3(CLPB):c.1785+13G>A
NM_001258392.3(CLPB):c.1795C>A (p.Arg599Ser)
NM_001258392.3(CLPB):c.1836G>T (p.Leu612=)
NM_001258392.3(CLPB):c.183C>T (p.Ala61=)
NM_001258392.3(CLPB):c.1890A>G (p.Leu630=)
NM_001258392.3(CLPB):c.1902A>C (p.Pro634=) rs776395544
NM_001258392.3(CLPB):c.1902A>G (p.Pro634=)
NM_001258392.3(CLPB):c.1908G>A (p.Leu636=) rs2135483654
NM_001258392.3(CLPB):c.1920G>A (p.Gln640=)
NM_001258392.3(CLPB):c.1959C>T (p.Ile653=)
NM_001258392.3(CLPB):c.2028C>T (p.Thr676=) rs2135483266
NM_001258392.3(CLPB):c.213G>A (p.Gly71=) rs1856645490
NM_001258392.3(CLPB):c.270C>T (p.Arg90=)
NM_001258392.3(CLPB):c.282C>T (p.Pro94=)
NM_001258392.3(CLPB):c.303G>A (p.Gln101=)
NM_001258392.3(CLPB):c.315C>T (p.Asn105=)
NM_001258392.3(CLPB):c.34C>T (p.Leu12=)
NM_001258392.3(CLPB):c.352C>T (p.Leu118=)
NM_001258392.3(CLPB):c.369G>T (p.Val123=)
NM_001258392.3(CLPB):c.378C>T (p.Cys126=)
NM_001258392.3(CLPB):c.393G>A (p.Pro131=) rs1856631048
NM_001258392.3(CLPB):c.403+13T>G
NM_001258392.3(CLPB):c.403+14C>T
NM_001258392.3(CLPB):c.403+15T>G
NM_001258392.3(CLPB):c.403+7_403+8del rs754849241
NM_001258392.3(CLPB):c.404-14C>T
NM_001258392.3(CLPB):c.404-15C>G
NM_001258392.3(CLPB):c.404-17G>A
NM_001258392.3(CLPB):c.404-17G>C
NM_001258392.3(CLPB):c.447A>G (p.Glu149=) rs1856508277
NM_001258392.3(CLPB):c.450C>A (p.Val150=) rs2135168122
NM_001258392.3(CLPB):c.513C>G (p.Leu171=) rs1017640223
NM_001258392.3(CLPB):c.513C>T (p.Leu171=)
NM_001258392.3(CLPB):c.528C>A (p.Ile176=) rs766521266
NM_001258392.3(CLPB):c.542+13C>A
NM_001258392.3(CLPB):c.542+15T>C
NM_001258392.3(CLPB):c.542+18A>G
NM_001258392.3(CLPB):c.555C>T (p.Val185=) rs770534948
NM_001258392.3(CLPB):c.646+14G>C
NM_001258392.3(CLPB):c.646+7247C>T
NM_001258392.3(CLPB):c.646+7257G>A
NM_001258392.3(CLPB):c.646+7367del
NM_001258392.3(CLPB):c.646+7369C>T
NM_001258392.3(CLPB):c.646+7372T>C
NM_001258392.3(CLPB):c.646+7375A>G
NM_001258392.3(CLPB):c.646+7G>A rs1854866433
NM_001258392.3(CLPB):c.647-10G>A rs2135614152
NM_001258392.3(CLPB):c.654C>T (p.Ile218=)
NM_001258392.3(CLPB):c.663G>A (p.Glu221=) rs571326442
NM_001258392.3(CLPB):c.669C>T (p.Asp223=)
NM_001258392.3(CLPB):c.759G>A (p.Lys253=)
NM_001258392.3(CLPB):c.775+14T>C
NM_001258392.3(CLPB):c.776-10C>A rs141271919
NM_001258392.3(CLPB):c.776-13C>A
NM_001258392.3(CLPB):c.776-17C>T rs2135549983
NM_001258392.3(CLPB):c.776-5G>T rs1253919639
NM_001258392.3(CLPB):c.780C>T (p.Ala260=)
NM_001258392.3(CLPB):c.795G>A (p.Arg265=)
NM_001258392.3(CLPB):c.816C>T (p.Pro272=)
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.874-10C>G
NM_001258392.3(CLPB):c.874-7C>G
NM_001258392.3(CLPB):c.897T>G (p.Arg299=)
NM_001258392.3(CLPB):c.908A>G (p.Glu303Gly) rs144712077
NM_001258392.3(CLPB):c.909G>A (p.Glu303=)
NM_001258392.3(CLPB):c.942G>A (p.Lys314=)
NM_001258392.3(CLPB):c.972C>T (p.Ile324=)
NM_001258392.3(CLPB):c.988+14A>T rs2135527417
NM_001258392.3(CLPB):c.988+16A>G
NM_001258392.3(CLPB):c.989-4G>A
NM_001258392.3(CLPB):c.99C>A (p.Ser33=) rs1277330273
NM_001258392.3(CLPB):c.99C>G (p.Ser33=)
NM_001258392.3(CLPB):c.9G>A (p.Gly3=)
NM_030813.6(CLPB):c.651G>C (p.Gly217=)
NM_030813.6(CLPB):c.666A>C (p.Ala222=)
NM_030813.6(CLPB):c.675C>T (p.His225=)
NM_030813.6(CLPB):c.693A>C (p.Thr231=)
NM_030813.6(CLPB):c.705G>A (p.Glu235=) rs2135657829
NM_030813.6(CLPB):c.729C>T (p.Pro243=)

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