ClinVar Miner

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

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_001258392.3(CLPB):c.1792C>T (p.Arg598Cys) rs150343959 0.00133
NM_030813.6(CLPB):c.703G>T (p.Glu235Ter) rs374473067 0.00004
NM_001258392.3(CLPB):c.1760A>G (p.Tyr587Cys) rs786205138 0.00003
NM_001258392.3(CLPB):c.713C>T (p.Thr238Met) rs200032855 0.00003
NM_001258392.3(CLPB):c.934C>T (p.Arg312Ter) rs185461628 0.00003
NM_001258392.3(CLPB):c.532C>T (p.Arg178Ter) rs774185980 0.00001
NM_030813.6(CLPB):c.690G>A (p.Trp230Ter) rs780554501 0.00001
NC_000011.10:g.(?_72372905)_(72380404_?)del
NC_000011.9:g.(?_72004411)_(72006712_?)del
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.1017C>G (p.Tyr339Ter)
NM_001258392.3(CLPB):c.1341_1344del (p.Asp448fs)
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.1595del (p.Ile532fs) rs876657402
NM_001258392.3(CLPB):c.1682C>T (p.Ala561Val) rs748010262
NM_001258392.3(CLPB):c.1813_1814delinsAA (p.Ala605Lys)
NM_001258392.3(CLPB):c.1847G>T (p.Gly616Val) rs759500860
NM_001258392.3(CLPB):c.449_451delinsAATAT (p.Val150fs) rs1856508068
NM_001258392.3(CLPB):c.658C>T (p.Arg220Ter) rs777202372
NM_001258392.3(CLPB):c.790C>T (p.Gln264Ter)
NM_001258392.3(CLPB):c.871A>T (p.Lys291Ter) rs786205139
NM_030813.6(CLPB):c.654dup (p.Gln219fs) rs1951072912

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