ClinVar Miner

List of variants in gene PLK4 studied for Seckel syndrome

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 2
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HGVS dbSNP
NM_014264.5(PLK4):c.1299_1303del (p.Phe433fs) rs724159996
NM_014264.5(PLK4):c.2811-5C>G rs724159995

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