ClinVar Miner

List of variants reported as likely pathogenic for Cornelia de Lange syndrome by Victorian Clinical Genetics Services,Murdoch Childrens Research Institute

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1
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NM_018486.3(HDAC8):c.839_843delinsGT (p.Thr280_Pro281delinsSer) rs1057516037

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