ClinVar Miner

List of variants reported as likely benign for Cornelia de Lange syndrome 1 by Fulgent Genetics, Fulgent Genetics

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_133433.4(NIPBL):c.1965G>T (p.Glu655Asp) rs80358350 0.00379
NM_133433.4(NIPBL):c.535G>A (p.Ala179Thr) rs142923613 0.00365
NM_133433.4(NIPBL):c.294C>T (p.Ala98=) rs142184978 0.00134
NM_133433.4(NIPBL):c.5690A>G (p.Asn1897Ser) rs190086412 0.00009
NM_133433.4(NIPBL):c.5574+5G>T rs745769829 0.00007
NM_133433.4(NIPBL):c.8329G>T (p.Ala2777Ser) rs200872976 0.00002
NM_133433.4(NIPBL):c.230+10A>T rs1342924796 0.00001
NM_133433.4(NIPBL):c.4240-7T>C rs587783943
NM_133433.4(NIPBL):c.7524TTCAGA[5] (p.Ser2515_Glu2516insAspSer)
NM_133433.4(NIPBL):c.868+4C>T rs751127087

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