ClinVar Miner

List of variants in gene combination CD27, LOC130007242 reported as uncertain significance for immune system disorder

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001242.5(CD27):c.546A>T (p.Arg182Ser) rs746393687 0.00007
NM_001242.5(CD27):c.635A>G (p.His212Arg) rs755699729 0.00002
NM_001242.5(CD27):c.586T>C (p.Phe196Leu) rs1281975793 0.00001
NM_001242.5(CD27):c.564T>G (p.Asp188Glu) rs1949528650
NM_001242.5(CD27):c.571C>T (p.Arg191Cys)
NM_001242.5(CD27):c.572G>A (p.Arg191His)
NM_001242.5(CD27):c.575T>C (p.Ile192Thr) rs1457741812
NM_001242.5(CD27):c.596T>C (p.Met199Thr)

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