ClinVar Miner

List of variants reported as likely pathogenic for Cornelia de Lange syndrome 1 by Revvity Omics, Revvity

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_133433.4(NIPBL):c.1808del (p.Lys603fs)	rs727503767
NM_133433.4(NIPBL):c.6344-1G>A	rs2478587495
NM_133433.4(NIPBL):c.7168G>A (p.Ala2390Thr)	rs587784036

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