List of variants reported as uncertain significance for Cornelia de Lange syndrome 1 by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_133433.4(NIPBL):c.7552G>A (p.Asp2518Asn)	rs961989627	0.00001
NM_001379291.1(BRD4):c.1292A>C (p.Lys431Thr)
NM_133433.4(NIPBL):c.1285C>G (p.Leu429Val)	rs1743429461
NM_133433.4(NIPBL):c.1717T>C (p.Cys573Arg)	rs1744567400
NM_133433.4(NIPBL):c.1925C>T (p.Thr642Ile)	rs1744597297
NM_133433.4(NIPBL):c.3527A>G (p.Glu1176Gly)	rs1275880743
NM_133433.4(NIPBL):c.3928G>A (p.Ala1310Thr)	rs2149676816
NM_133433.4(NIPBL):c.8370del (p.Thr2791fs)	rs1755229121

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