ClinVar Miner

List of variants in gene TNFRSF13C reported as uncertain significance for agammaglobulinemia

Included ClinVar conditions (45):
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Gene type:
ClinVar version:
Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_052945.4(TNFRSF13C):c.475C>T (p.His159Tyr) rs61756766 0.00573
NM_052945.4(TNFRSF13C):c.368-15C>A rs372331667 0.00073
NM_052945.4(TNFRSF13C):c.436C>T (p.Pro146Ser) rs151243201 0.00073
NM_052945.4(TNFRSF13C):c.375G>A (p.Glu125=) rs371805226 0.00017
NM_052945.4(TNFRSF13C):c.*113G>A rs550105406 0.00004
NM_052945.4(TNFRSF13C):c.424G>A (p.Ala142Thr) rs367567995 0.00002
NM_052945.4(TNFRSF13C):c.347C>T (p.Ala116Val) rs886057588 0.00001
NM_052945.4(TNFRSF13C):c.367G>A (p.Ala123Thr) rs1303897969 0.00001
NM_052945.4(TNFRSF13C):c.392T>C (p.Ile131Thr) rs1013387691 0.00001
NM_052945.4(TNFRSF13C):c.433T>A (p.Trp145Arg) rs1180513439 0.00001
NM_052945.4(TNFRSF13C):c.538G>A (p.Gly180Ser) rs772090919 0.00001
NC_000022.11:g.(?_41925347)_(41926793_?)dup
NM_052945.4(TNFRSF13C):c.*107G>C rs2077623255
NM_052945.4(TNFRSF13C):c.*253C>T rs2077622673
NM_052945.4(TNFRSF13C):c.344A>T (p.Glu115Val) rs2077628213
NM_052945.4(TNFRSF13C):c.367+1del
NM_052945.4(TNFRSF13C):c.370C>T (p.Pro124Ser)
NM_052945.4(TNFRSF13C):c.375G>T (p.Glu125Asp)
NM_052945.4(TNFRSF13C):c.403C>T (p.Pro135Ser) rs1385697615
NM_052945.4(TNFRSF13C):c.431C>T (p.Ala144Val) rs1000961266
NM_052945.4(TNFRSF13C):c.445G>A (p.Gly149Arg)
NM_052945.4(TNFRSF13C):c.452A>T (p.Asp151Val) rs942451212
NM_052945.4(TNFRSF13C):c.478A>G (p.Ser160Gly) rs1569421592
NM_052945.4(TNFRSF13C):c.479G>T (p.Ser160Ile) rs2146588362
NM_052945.4(TNFRSF13C):c.485C>T (p.Pro162Leu) rs1602373110
NM_052945.4(TNFRSF13C):c.497C>T (p.Thr166Ile) rs1185675031
NM_052945.4(TNFRSF13C):c.508T>C (p.Ser170Pro)
NM_052945.4(TNFRSF13C):c.511A>T (p.Thr171Ser)
NM_052945.4(TNFRSF13C):c.512C>G (p.Thr171Ser)
NM_052945.4(TNFRSF13C):c.534_543delinsAATAGCAGG (p.Ala179fs) rs1602373048
NM_052945.4(TNFRSF13C):c.538G>C (p.Gly180Arg)

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