ClinVar Miner

List of variants in gene CD27 reported as pathogenic for immune system disorder

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001242.5(CD27):c.319C>T (p.Arg107Cys) rs371761387 0.00005
NM_001242.5(CD27):c.239dup (p.His80fs) rs748418658 0.00001
NC_000012.11:g.(?_6554691)_(6560069_?)dup
NM_001242.5(CD27):c.154del (p.Asp52fs) rs781593353
NM_001242.5(CD27):c.158G>A (p.Cys53Tyr) rs397514667
NM_001242.5(CD27):c.24G>A (p.Trp8Ter) rs398122933
NM_001242.5(CD27):c.250dup (p.Cys84fs) rs1592117677
NM_001242.5(CD27):c.256del (p.His86fs)
NM_001242.5(CD27):c.441T>A (p.Tyr147Ter)
NM_001242.5(CD27):c.479del (p.Met160fs)

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