ClinVar Miner

List of variants in gene NIPBL studied for Cornelia de Lange Syndrome

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Total variants: 7
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HGVS dbSNP
NM_133433.4(NIPBL):c.-153dup rs567891305
NM_133433.4(NIPBL):c.-416dup rs886060553
NM_133433.4(NIPBL):c.-429del rs376839773
NM_133433.4(NIPBL):c.1376T>G (p.Ile459Arg) rs150837768
NM_133433.4(NIPBL):c.1495+8_1495+10del rs398124464
NM_133433.4(NIPBL):c.5054C>T (p.Thr1685Ile)
NM_133433.4(NIPBL):c.7697A>G (p.Lys2566Arg) rs1216631170

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