ClinVar Miner

List of variants studied for Cornelia de Lange syndrome 1 by Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_133433.4(NIPBL):c.328A>T (p.Lys110Ter) rs2479004915
NM_133433.4(NIPBL):c.4226_4227del (p.Thr1409fs) rs2478158664
NM_133433.4(NIPBL):c.5456G>A (p.Arg1819Gln) rs80358366

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