ClinVar Miner

List of variants in gene POGZ reported as likely pathogenic by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

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_015100.4(POGZ):c.1524-3C>G rs367963956
NM_015100.4(POGZ):c.2545+1del rs1571332089
NM_015100.4(POGZ):c.2836del (p.Asp946fs) rs1571326296
NM_015100.4(POGZ):c.3206_3207del (p.Ser1068_Tyr1069insTer) rs1553212374

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