ClinVar Miner

List of variants reported as likely benign for 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia by Invitae

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Total variants: 67
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HGVS dbSNP
NM_001258392.3(CLPB):c.1053A>G (p.Gly351=)
NM_001258392.3(CLPB):c.105G>T (p.Arg35=)
NM_001258392.3(CLPB):c.1140C>T (p.Asp380=) rs200950385
NM_001258392.3(CLPB):c.1146C>T (p.Ser382=)
NM_001258392.3(CLPB):c.114T>C (p.Thr38=) rs1590948323
NM_001258392.3(CLPB):c.1164C>T (p.His388=) rs202009794
NM_001258392.3(CLPB):c.1168-9T>C rs979851122
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.1320G>A (p.Leu440=) rs146721061
NM_001258392.3(CLPB):c.1374C>T (p.Asp458=)
NM_001258392.3(CLPB):c.1392C>G (p.Thr464=)
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.1461C>T (p.Ser487=)
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.1503T>G (p.Ser501Arg)
NM_001258392.3(CLPB):c.1542G>A (p.Val514=) rs935570035
NM_001258392.3(CLPB):c.1581G>A (p.Glu527=) rs752634197
NM_001258392.3(CLPB):c.1605C>T (p.Ile535=)
NM_001258392.3(CLPB):c.1620C>T (p.Pro540=) rs200970392
NM_001258392.3(CLPB):c.1644A>G (p.Gln548=)
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.1740C>T (p.Val580=) rs759628306
NM_001258392.3(CLPB):c.1743C>T (p.Asp581=) rs147296630
NM_001258392.3(CLPB):c.1786-6C>T rs191389918
NM_001258392.3(CLPB):c.1796G>A (p.Arg599His) rs149463053
NM_001258392.3(CLPB):c.1908G>A (p.Leu636=)
NM_001258392.3(CLPB):c.1968C>T (p.Asp656=)
NM_001258392.3(CLPB):c.1995G>T (p.Arg665=) rs894319387
NM_001258392.3(CLPB):c.212G>C (p.Gly71Ala) rs146099754
NM_001258392.3(CLPB):c.246C>T (p.Cys82=)
NM_001258392.3(CLPB):c.249C>T (p.Leu83=) rs200845330
NM_001258392.3(CLPB):c.261T>C (p.Thr87=) rs1427118335
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.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.528C>A (p.Ile176=)
NM_001258392.3(CLPB):c.531C>T (p.Asn177=) rs771786059
NM_001258392.3(CLPB):c.555C>T (p.Val185=)
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.646+7280C>T rs759358526
NM_001258392.3(CLPB):c.646+7288G>A rs143097446
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.663G>A (p.Glu221=) rs571326442
NM_001258392.3(CLPB):c.723C>T (p.His241=) rs368930954
NM_001258392.3(CLPB):c.771T>C (p.Asp257=)
NM_001258392.3(CLPB):c.776-10C>A
NM_001258392.3(CLPB):c.776-10_776-8del
NM_001258392.3(CLPB):c.817T>C (p.Leu273=)
NM_001258392.3(CLPB):c.837G>A (p.Gly279=)
NM_001258392.3(CLPB):c.849G>A (p.Lys283=)
NM_001258392.3(CLPB):c.966C>T (p.Ser322=) rs371562971

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