ClinVar Miner

List of variants reported as pathogenic for Cornelia de Lange syndrome 2 by Centre de Biologie Pathologie Génétique,Centre Hospitalier Universitaire de Lille

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1
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HGVS dbSNP
NM_006306.3(SMC1A):c.1388_1389insC (p.Glu464fs) rs1057519398

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