ClinVar Miner

List of variants reported as likely pathogenic for Cornelia de Lange syndrome 2 by Center of Genomic medicine, Geneva,University Hospital of Geneva

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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NM_001281463.1(SMC1A):c.3307A>G (p.Met1103Val) rs1057519499
NM_001281463.1(SMC1A):c.58A>G (p.Met20Val) rs1556891104

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