ClinVar Miner

List of variants studied for Cornelia de Lange syndrome 5 by Genetic Services Laboratory, University of Chicago

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_018486.3(HDAC8):c.-5G>T rs587783662
NM_018486.3(HDAC8):c.131del (p.Ser43_Leu44insTer) rs587783663
NM_018486.3(HDAC8):c.134_137del (p.Ile45fs) rs797045610
NM_018486.3(HDAC8):c.229C>T (p.Gln77Ter) rs797045611
NM_018486.3(HDAC8):c.24G>A (p.Ala8=) rs61736843
NM_018486.3(HDAC8):c.421_423del (p.Trp141del) rs587783664
NM_018486.3(HDAC8):c.556G>A (p.Glu186Lys) rs797045612
NM_018486.3(HDAC8):c.770C>A (p.Pro257His) rs797045613

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