List of variants reported as uncertain significance for Cornelia de Lange syndrome 1 by Department of Pathology and Laboratory Medicine, Sinai Health System

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_133433.4(NIPBL):c.1847G>A (p.Ser616Asn)	rs371073215	0.00004
NM_133433.4(NIPBL):c.2120G>T (p.Gly707Val)	rs768620796	0.00004
NM_133433.4(NIPBL):c.5772A>C (p.Glu1924Asp)	rs771252680	0.00002
NM_133433.4(NIPBL):c.6389A>G (p.Asn2130Ser)

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