ClinVar Miner

List of variants in gene NIPBL reported as likely benign for De Lange syndrome

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Gene type:
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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_133433.4(NIPBL):c.*282_*285del rs535770794
NM_133433.4(NIPBL):c.*84dup rs587783876
NM_133433.4(NIPBL):c.-429del rs376839773
NM_133433.4(NIPBL):c.1495+8_1495+10del rs398124464
NM_133433.4(NIPBL):c.7697A>G (p.Lys2566Arg) rs1216631170

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