ClinVar Miner

List of variants studied for Cornelia de Lange syndrome 5 by Institute of Human Genetics, University of Goettingen

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_018486.3(HDAC8):c.1081C>T (p.Arg361Ter) rs1555948969
NM_018486.3(HDAC8):c.1112-2A>G rs1131690790
NM_018486.3(HDAC8):c.738-9969T>C rs782287729

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