List of variants reported as pathogenic for Cornelia de Lange syndrome 1 by Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_133433.4(NIPBL):c.1025del (p.Ala342fs)
NM_133433.4(NIPBL):c.1555G>T (p.Gly519Ter)
NM_133433.4(NIPBL):c.2291del (p.Asn764fs)	rs1580396767
NM_133433.4(NIPBL):c.2479_2480del (p.Arg827fs)	rs398124465
NM_133433.4(NIPBL):c.6448C>G (p.Leu2150Val)
NM_133433.4(NIPBL):c.7168G>A (p.Ala2390Thr)	rs587784036

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