ClinVar Miner

List of variants in gene CLPB studied for Inborn genetic diseases

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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_030813.6(CLPB):c.661G>A (p.Gly221Ser) rs150552809 0.00247
NM_001258392.3(CLPB):c.1474G>T (p.Ala492Ser) rs145040658 0.00133
NM_001258392.3(CLPB):c.1475C>G (p.Ala492Gly) rs149985372 0.00133
NM_001258392.3(CLPB):c.1958T>C (p.Ile653Thr) rs144777839 0.00051
NM_001258392.3(CLPB):c.610A>G (p.Lys204Glu) rs538184539 0.00007
NM_001258392.3(CLPB):c.1979G>A (p.Arg660His) rs758613799 0.00004
NM_001258392.3(CLPB):c.1571G>A (p.Arg524Gln) rs576652298 0.00003
NM_001258392.3(CLPB):c.1692G>T (p.Arg564Ser) rs778761751 0.00003
NM_001258392.3(CLPB):c.1018G>A (p.Asp340Asn) rs893057489 0.00002
NM_001258392.3(CLPB):c.1462C>T (p.Arg488Cys) rs369380599 0.00002
NM_001258392.3(CLPB):c.1477G>A (p.Glu493Lys) rs376835047 0.00001
NM_001258392.3(CLPB):c.1066+1G>A rs1555087619
NM_001258392.3(CLPB):c.1103T>C (p.Met368Thr)
NM_001258392.3(CLPB):c.1484T>C (p.Leu495Pro)
NM_001258392.3(CLPB):c.1497G>C (p.Gln499His) rs577566573
NM_001258392.3(CLPB):c.1514C>T (p.Thr505Ile) rs200812003
NM_001258392.3(CLPB):c.1648G>A (p.Val550Ile)
NM_001258392.3(CLPB):c.1795C>A (p.Arg599Ser)
NM_001258392.3(CLPB):c.1945C>T (p.Arg649Cys)
NM_001258392.3(CLPB):c.1946G>A (p.Arg649His)
NM_001258392.3(CLPB):c.2023_*4del (p.Asn675fs) rs1362604874
NM_001258392.3(CLPB):c.341G>A (p.Gly114Asp)
NM_001258392.3(CLPB):c.424G>A (p.Ala142Thr)
NM_001258392.3(CLPB):c.428G>A (p.Arg143His)
NM_001258392.3(CLPB):c.748C>T (p.Arg250Cys) rs146762466
NM_001258392.3(CLPB):c.766C>T (p.Leu256Phe)
NM_001258392.3(CLPB):c.886C>G (p.Gln296Glu)
NM_001258392.3(CLPB):c.896G>C (p.Arg299Pro) rs547532550
NM_001258392.3(CLPB):c.917G>A (p.Arg306His)

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