List of variants in gene NIPBL reported as pathogenic for Inborn genetic diseases

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_133433.4(NIPBL):c.1435C>T (p.Arg479Ter)	rs1554015303
NM_133433.4(NIPBL):c.3937dup (p.Thr1313fs)
NM_133433.4(NIPBL):c.4560+2_4560+5del
NM_133433.4(NIPBL):c.4760_4763del (p.Ser1586_Leu1587insTer)	rs1554024009
NM_133433.4(NIPBL):c.5329-15A>G	rs587783968
NM_133433.4(NIPBL):c.5440C>T (p.Arg1814Ter)	rs80358362
NM_133433.4(NIPBL):c.6679_6682del (p.Val2227fs)	rs2149737037
NM_133433.4(NIPBL):c.7400_7401insT (p.Phe2468fs)	rs1754205019
NM_133433.4(NIPBL):c.771+1G>A	rs587784048
NM_133433.4(NIPBL):c.7861-1G>A

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