ClinVar Miner

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: 7
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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.6892C>T (p.Arg2298Cys) rs80358376
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.793_794insTTCC (p.Arg265fs) rs2149621638
NM_133433.4(NIPBL):c.8326dup (p.Ile2776fs) rs1157335847

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