ClinVar Miner

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

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_001258392.3(CLPB):c.840A>G (p.Glu280=) rs36049191 0.09452
NM_001258392.3(CLPB):c.1860C>T (p.Arg620=) rs35401939 0.02006
NM_001258392.3(CLPB):c.794G>C (p.Arg265Thr) rs7938203 0.01762
NM_001258392.3(CLPB):c.996G>A (p.Arg332=) rs146912721 0.00764
NM_001258392.3(CLPB):c.2026A>G (p.Thr676Ala) rs112524097 0.00471
NM_001258392.3(CLPB):c.1993C>T (p.Arg665Trp) rs141383303 0.00324
NM_030813.6(CLPB):c.661G>A (p.Gly221Ser) rs150552809 0.00247
NM_001258392.3(CLPB):c.349G>T (p.Ala117Ser) rs150248137 0.00170
NM_001258392.3(CLPB):c.1122+16T>C rs187846751 0.00147
NM_001258392.3(CLPB):c.1935C>T (p.Leu645=) rs138717332 0.00088
NM_001258392.3(CLPB):c.404-16C>T rs371250603 0.00032
NM_001258392.3(CLPB):c.1429C>T (p.Leu477=) rs77345581 0.00018
NM_001258392.3(CLPB):c.690C>T (p.Asn230=) rs200517382 0.00011
NM_001258392.3(CLPB):c.1865C>T (p.Thr622Met) rs544489365 0.00010
NM_001258392.3(CLPB):c.776-10C>G rs141271919 0.00010
NM_001258392.3(CLPB):c.1866G>A (p.Thr622=) rs140281600 0.00006
NM_001258392.3(CLPB):c.1535A>T (p.Glu512Val) rs373383193 0.00005
NM_001258392.3(CLPB):c.1571G>A (p.Arg524Gln) rs576652298 0.00003
NM_001258392.3(CLPB):c.404-12dup

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