ClinVar Miner

List of variants in gene combination CD79B, GH-LCR reported as uncertain significance for Agammaglobulinemia 6, autosomal recessive

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Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_000626.4(CD79B):c.338G>A (p.Arg113Gln) rs147236129 0.00022
NM_000626.4(CD79B):c.250G>A (p.Glu84Lys) rs373082402 0.00015
NM_000626.4(CD79B):c.286A>G (p.Met96Val) rs201757742 0.00014
NM_000626.4(CD79B):c.497C>T (p.Thr166Met) rs147194821 0.00013
NM_000626.4(CD79B):c.179C>T (p.Thr60Met) rs144755516 0.00008
NM_000626.4(CD79B):c.329A>G (p.Gln110Arg) rs139707827 0.00004
NM_000626.4(CD79B):c.646G>C (p.Gly216Arg) rs777266345 0.00004
NM_000626.4(CD79B):c.422G>A (p.Arg141Gln) rs777737578 0.00003
NM_000626.4(CD79B):c.218A>C (p.Asn73Thr) rs200126941 0.00002
NM_000626.4(CD79B):c.272T>C (p.Leu91Pro) rs779639084 0.00002
NM_000626.4(CD79B):c.389C>T (p.Ser130Leu) rs1389559363 0.00002
NM_000626.4(CD79B):c.47C>T (p.Ala16Val) rs114330958 0.00002
NM_000626.4(CD79B):c.106C>T (p.Arg36Trp) rs201705534 0.00001
NM_000626.4(CD79B):c.131C>T (p.Ser44Leu) rs868652684 0.00001
NM_000626.4(CD79B):c.14C>T (p.Ala5Val) rs748240443 0.00001
NM_000626.4(CD79B):c.379A>G (p.Asn127Asp) rs370893971 0.00001
NM_000626.4(CD79B):c.591G>A (p.Glu197=) rs199859520 0.00001
NM_000626.4(CD79B):c.635C>T (p.Thr212Met) rs149266494 0.00001
NM_000626.4(CD79B):c.124G>A (p.Ala42Thr)
NM_000626.4(CD79B):c.152G>A (p.Arg51His) rs1401272877
NM_000626.4(CD79B):c.160G>A (p.Ala54Thr)
NM_000626.4(CD79B):c.170G>C (p.Arg57Pro)
NM_000626.4(CD79B):c.205A>G (p.Ser69Gly) rs2144758191
NM_000626.4(CD79B):c.208G>A (p.Ala70Thr) rs912718113
NM_000626.4(CD79B):c.217A>G (p.Asn73Asp)
NM_000626.4(CD79B):c.245T>G (p.Met82Arg)
NM_000626.4(CD79B):c.256C>A (p.Pro86Thr)
NM_000626.4(CD79B):c.299A>G (p.Gln100Arg)
NM_000626.4(CD79B):c.304G>A (p.Glu102Lys) rs1908036921
NM_000626.4(CD79B):c.323C>T (p.Thr108Ile) rs763307022
NM_000626.4(CD79B):c.341T>G (p.Phe114Cys) rs1908032776
NM_000626.4(CD79B):c.362T>G (p.Phe121Cys)
NM_000626.4(CD79B):c.364_366del (p.Cys122del)
NM_000626.4(CD79B):c.414A>G (p.Thr138=) rs1567810051
NM_000626.4(CD79B):c.429G>A (p.Met143Ile)
NM_000626.4(CD79B):c.431-8_431-7delinsTG
NM_000626.4(CD79B):c.467C>T (p.Thr156Met) rs2144756917
NM_000626.4(CD79B):c.523G>A (p.Val175Met)
NM_000626.4(CD79B):c.542T>A (p.Leu181Gln) rs1908002118
NM_000626.4(CD79B):c.547A>G (p.Lys183Glu) rs1908001684
NM_000626.4(CD79B):c.552T>A (p.Asp184Glu) rs1598399769
NM_000626.4(CD79B):c.557G>A (p.Ser186Asn) rs1290989439
NM_000626.4(CD79B):c.563_564delinsGG (p.Ala188Gly) rs2144755949
NM_000626.4(CD79B):c.571G>C (p.Glu191Gln)
NM_000626.4(CD79B):c.584C>G (p.Thr195Ser)
NM_000626.4(CD79B):c.591+4A>T rs2144755829
NM_000626.4(CD79B):c.641G>A (p.Arg214Gln)
NM_000626.4(CD79B):c.664G>A (p.Val222Ile) rs144588938
NM_000626.4(CD79B):c.67+3A>G rs1335363614
NM_000626.4(CD79B):c.679G>A (p.Gly227Ser) rs2144755333
NM_000626.4(CD79B):c.92C>G (p.Ser31Trp) rs750544228
NM_000626.4(CD79B):c.93GGA[1] (p.Glu32del) rs780720849
NM_000626.4(CD79B):c.94G>C (p.Glu32Gln)

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