ClinVar Miner

List of variants in gene combination CLPB, LOC130006336 reported as likely benign for 3-methylglutaconic aciduria

Included ClinVar conditions (18):
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Gene type:
ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_001258392.3(CLPB):c.212G>C (p.Gly71Ala) rs146099754 0.00096
NM_001258392.3(CLPB):c.159G>A (p.Gly53=) rs146260335 0.00040
NM_001258392.3(CLPB):c.189C>G (p.Phe63Leu) rs141970893 0.00020
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.247C>T (p.Leu83Phe) rs1590947700 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.57G>C (p.Arg19=) rs112362953 0.00001
NM_001258392.3(CLPB):c.58C>T (p.Leu20=) rs150558227 0.00001
NM_001258392.3(CLPB):c.103C>A (p.Arg35=)
NM_001258392.3(CLPB):c.114T>C (p.Thr38=) rs1590948323
NM_001258392.3(CLPB):c.138G>A (p.Gln46=)
NM_001258392.3(CLPB):c.13C>T (p.Leu5=)
NM_001258392.3(CLPB):c.174A>G (p.Thr58=)
NM_001258392.3(CLPB):c.177G>T (p.Ser59=)
NM_001258392.3(CLPB):c.183C>T (p.Ala61=)
NM_001258392.3(CLPB):c.213G>A (p.Gly71=) rs1856645490
NM_001258392.3(CLPB):c.216G>C (p.Gly72=)
NM_001258392.3(CLPB):c.270C>T (p.Arg90=)
NM_001258392.3(CLPB):c.282C>T (p.Pro94=)
NM_001258392.3(CLPB):c.294C>T (p.Leu98=)
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.96T>A (p.Ala32=)
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=)

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