ClinVar Miner

List of variants in gene CLPB reported as likely benign for 3-methylglutaconic aciduria

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 26
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HGVS dbSNP
NM_001258392.3(CLPB):c.1140C>T (p.Asp380=) rs200950385
NM_001258392.3(CLPB):c.114T>C (p.Thr38=) rs1590948323
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.1425C>T (p.His475=) rs756497518
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.1542G>A (p.Val514=) rs935570035
NM_001258392.3(CLPB):c.1620C>T (p.Pro540=) rs200970392
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.1743C>T (p.Asp581=) rs147296630
NM_001258392.3(CLPB):c.1796G>A (p.Arg599His) rs149463053
NM_001258392.3(CLPB):c.212G>C (p.Gly71Ala) rs146099754
NM_001258392.3(CLPB):c.261T>C (p.Thr87=) rs1427118335
NM_001258392.3(CLPB):c.403+7_403+8del rs754849241
NM_001258392.3(CLPB):c.455+8G>C rs200993434
NM_001258392.3(CLPB):c.57G>C (p.Arg19=) rs112362953
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.663G>A (p.Glu221=) rs571326442
NM_001258392.3(CLPB):c.723C>T (p.His241=) rs368930954
NM_001258392.3(CLPB):c.966C>T (p.Ser322=) rs371562971

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