ClinVar Miner

List of variants studied for Cornelia de Lange syndrome 1 by Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare

Included ClinVar conditions (3):

Cornelia de Lange syndrome 1
Cornelia de Lange syndrome 1; Developmental and epileptic encephalopathy, 85, with or without midline brain defects
De Lange syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_133433.4(NIPBL):c.5329-15A>G	rs587783968

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