ClinVar Miner

List of variants in gene combination CPLANE1, NIPBL reported as likely benign for Cornelia de Lange syndrome

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NM_133433.4(NIPBL):c.*282_*285del rs535770794
NM_133433.4(NIPBL):c.*334G>A rs181989563
NM_133433.4(NIPBL):c.*84dup rs587783876

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