List of variants studied for Cornelia de Lange syndrome 1 by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 23

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HGVS	dbSNP	gnomAD frequency
NM_133433.4(NIPBL):c.1178A>G (p.Asn393Ser)	rs777670369	0.00001
NM_133433.4(NIPBL):c.1259T>C (p.Leu420Ser)	rs1284582406
NM_133433.4(NIPBL):c.188C>A (p.Ser63Ter)	rs1740845459
NM_133433.4(NIPBL):c.3316C>T (p.Arg1106Ter)	rs2149668942
NM_133433.4(NIPBL):c.4513C>G (p.Pro1505Ala)	rs377211455
NM_133433.4(NIPBL):c.5225_5225+6del	rs2478318349
NM_133433.4(NIPBL):c.5329-15A>G	rs587783968
NM_133433.4(NIPBL):c.5773G>A (p.Ala1925Thr)	rs1750256945
NM_133433.4(NIPBL):c.6726AGA[2] (p.Glu2244del)	rs2149737108
NM_133433.4(NIPBL):c.6765G>A (p.Trp2255Ter)
NM_133433.4(NIPBL):c.6892C>T (p.Arg2298Cys)	rs80358376
NM_133433.4(NIPBL):c.7012G>C (p.Ala2338Pro)	rs587784030
NM_133433.4(NIPBL):c.7150C>T (p.Gln2384Ter)	rs1057516034
NM_133433.4(NIPBL):c.7168G>A (p.Ala2390Thr)	rs587784036
NM_133433.4(NIPBL):c.7414A>G (p.Met2472Val)	rs1264310290
NM_133433.4(NIPBL):c.7489G>T (p.Val2497Phe)	rs759115050
NM_133433.4(NIPBL):c.771+1G>A	rs587784048
NM_133433.4(NIPBL):c.793_794insTTCC (p.Arg265fs)	rs2149621638
NM_133433.4(NIPBL):c.8111G>A (p.Ser2704Asn)	rs2478769067
NM_133433.4(NIPBL):c.8326dup (p.Ile2776fs)	rs1157335847
NM_133433.4(NIPBL):c.8339del (p.Ser2780fs)	rs2478771713
NM_133433.4(NIPBL):c.869-1G>C	rs587784059
NM_133433.4(NIPBL):c.874A>G (p.Arg292Gly)	rs2479122663

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