ClinVar Miner

List of variants reported as uncertain significance for Cornelia de Lange syndrome by Geisinger Autism and Developmental Medicine Institute,Geisinger Health System

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NM_006265.2(RAD21):c.1349G>A (p.Arg450His) rs1051321465
NM_006265.2(RAD21):c.1852A>G (p.Ser618Gly) rs1554610467
NM_133433.4(NIPBL):c.2584A>G (p.Lys862Glu) rs1554017428

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