ClinVar Miner

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

Included ClinVar conditions (12):
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Gene type:
ClinVar version:
Total variants: 36
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HGVS dbSNP
NM_001258392.3(CLPB):c.1003G>A (p.Glu335Lys) rs765777645
NM_001258392.3(CLPB):c.1292C>T (p.Pro431Leu)
NM_001258392.3(CLPB):c.1375G>A (p.Ala459Thr)
NM_001258392.3(CLPB):c.1408G>A (p.Asp470Asn)
NM_001258392.3(CLPB):c.1462C>T (p.Arg488Cys)
NM_001258392.3(CLPB):c.1482C>G (p.Asn494Lys)
NM_001258392.3(CLPB):c.1546C>T (p.Arg516Cys)
NM_001258392.3(CLPB):c.1570C>T (p.Arg524Trp)
NM_001258392.3(CLPB):c.1579G>A (p.Glu527Lys)
NM_001258392.3(CLPB):c.1592G>A (p.Arg531Gln)
NM_001258392.3(CLPB):c.1786-3C>T
NM_001258392.3(CLPB):c.1792C>T (p.Arg598Cys) rs150343959
NM_001258392.3(CLPB):c.1859G>A (p.Arg620His)
NM_001258392.3(CLPB):c.1859G>T (p.Arg620Leu) rs137882645
NM_001258392.3(CLPB):c.1958T>C (p.Ile653Thr)
NM_001258392.3(CLPB):c.214G>A (p.Gly72Arg)
NM_001258392.3(CLPB):c.247C>T (p.Leu83Phe)
NM_001258392.3(CLPB):c.260C>T (p.Thr87Ile) rs1424542665
NM_001258392.3(CLPB):c.347G>C (p.Cys116Ser)
NM_001258392.3(CLPB):c.359C>G (p.Ala120Gly) rs1565107812
NM_001258392.3(CLPB):c.370G>T (p.Val124Phe)
NM_001258392.3(CLPB):c.441G>C (p.Met147Ile)
NM_001258392.3(CLPB):c.646+6T>C
NM_001258392.3(CLPB):c.646+7291G>A
NM_001258392.3(CLPB):c.646+7335T>C
NM_001258392.3(CLPB):c.680G>T (p.Arg227Met) rs1284671735
NM_001258392.3(CLPB):c.713C>T (p.Thr238Met) rs200032855
NM_001258392.3(CLPB):c.748C>G (p.Arg250Gly)
NM_001258392.3(CLPB):c.764T>C (p.Leu255Pro) rs1555098495
NM_001258392.3(CLPB):c.819G>C (p.Leu273Phe)
NM_001258392.3(CLPB):c.844A>G (p.Met282Val)
NM_001258392.3(CLPB):c.889C>T (p.Arg297Trp) rs148534573
NM_001258392.3(CLPB):c.908A>G (p.Glu303Gly)
NM_001258392.3(CLPB):c.949A>G (p.Ile317Val)
NM_001258392.3(CLPB):c.983G>A (p.Gly328Asp) rs1565433670
NM_001258392.3(CLPB):c.989C>T (p.Ala330Val)

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