ClinVar Miner

List of variants reported for Cornelia de Lange syndrome 1 by Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_133433.4(NIPBL):c.-467C>T rs1251456909
NM_133433.4(NIPBL):c.5862+3487C>T rs2149710327
NM_133433.4(NIPBL):c.869-640G>C rs2149626924

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