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

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
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.5225_5225+6del	rs2478318349
NM_133433.4(NIPBL):c.5329-15A>G	rs587783968
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.771+1G>A	rs587784048
NM_133433.4(NIPBL):c.793_794insTTCC (p.Arg265fs)	rs2149621638
NM_133433.4(NIPBL):c.8326dup (p.Ile2776fs)	rs1157335847
NM_133433.4(NIPBL):c.8339del (p.Ser2780fs)	rs2478771713

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