ClinVar Miner

List of variants reported as likely pathogenic for Cornelia de Lange syndrome 4

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_006265.3(RAD21):c.1774_1776del (p.Gln592del) rs1563686762
NM_006265.3(RAD21):c.1808T>C (p.Leu603Pro) rs863224910
NM_006265.3(RAD21):c.1858A>T (p.Ile620Phe) rs764118613
NM_006265.3(RAD21):c.497A>G (p.Asp166Gly) rs1586268625
NM_006265.3(RAD21):c.548T>G (p.Leu183Ter)

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