List of variants studied for Cornelia de Lange syndrome 1 by 3billion

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_133433.4(NIPBL):c.10dup (p.Asp4fs)	rs2149597479
NM_133433.4(NIPBL):c.1436G>A (p.Arg479Gln)	rs1017711925
NM_133433.4(NIPBL):c.2078C>G (p.Ser693Ter)
NM_133433.4(NIPBL):c.2T>A (p.Met1Lys)	rs121918264
NM_133433.4(NIPBL):c.3316C>T (p.Arg1106Ter)	rs2149668942
NM_133433.4(NIPBL):c.5272C>T (p.Arg1758Ter)
NM_133433.4(NIPBL):c.5329-15A>G	rs587783968
NM_133433.4(NIPBL):c.5366G>A (p.Arg1789Gln)	rs80358380
NM_133433.4(NIPBL):c.5427G>A (p.Arg1809=)
NM_133433.4(NIPBL):c.5982del (p.Asn1994fs)	rs2149721379
NM_133433.4(NIPBL):c.654_657del (p.Ile218fs)	rs2149619973
NM_133433.4(NIPBL):c.7825G>T (p.Glu2609Ter)	rs2149755613
NM_133433.4(NIPBL):c.8390_8396del (p.Ala2797fs)	rs2149761324
NM_133433.4(NIPBL):c.869-1G>C

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