ClinVar Miner

List of variants studied for Cornelia de Lange syndrome 1 by Fulgent Genetics,Fulgent Genetics

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Total variants: 4

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HGVS	dbSNP
NM_133433.4(NIPBL):c.4240-7T>C	rs587783943
NM_133433.4(NIPBL):c.4429A>C (p.Ser1477Arg)	rs1554022448
NM_133433.4(NIPBL):c.5944A>C (p.Ile1982Leu)	rs370593530
NM_133433.4(NIPBL):c.7487_7488inv (p.Glu2496Val)	rs1554034831

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