ClinVar Miner

List of variants in gene PI4KB reported as pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001369623.2(PI4KB):c.1346T>G (p.Val449Gly) rs2528758305
NM_001369623.2(PI4KB):c.2044G>A (p.Glu682Lys) rs2528620919
NM_001369623.2(PI4KB):c.2261T>G (p.Met754Arg) rs2528612732
NM_001369623.2(PI4KB):c.362A>G (p.Gln121Arg) rs765001640

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