List of variants in gene NIPBL studied for De Lange syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_133433.4(NIPBL):c.1376T>G (p.Ile459Arg)	rs150837768	0.00004
NM_133433.4(NIPBL):c.5054C>T (p.Thr1685Ile)	rs775077572	0.00001
NM_133433.4(NIPBL):c.265_266del	rs886060563
NM_133433.4(NIPBL):c.282_285del	rs535770794
NM_133433.4(NIPBL):c.*460del	rs768908921
NM_133433.4(NIPBL):c.742_743del	rs886060567
NM_133433.4(NIPBL):c.*84dup	rs587783876
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.1495+8_1495+10del	rs398124464
NM_133433.4(NIPBL):c.3439C>T (p.Arg1147Ter)	rs866740147
NM_133433.4(NIPBL):c.7697A>G (p.Lys2566Arg)	rs1216631170

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