List of variants in gene NIPBL reported as pathogenic by OMIM

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NIPBL, IVS44DS, A-G, +4
NM_133433.4(NIPBL):c.-321_-320delinsA	rs724159980
NM_133433.4(NIPBL):c.150del (p.Asn51fs)	rs1554011042
NM_133433.4(NIPBL):c.1547dup (p.Ala517fs)	rs1554016981
NM_133433.4(NIPBL):c.2479_2480del (p.Arg827fs)	rs398124465
NM_133433.4(NIPBL):c.2T>A (p.Met1Lys)	rs121918264
NM_133433.4(NIPBL):c.3616_3618del (p.Ile1206del)	rs121918266
NM_133433.4(NIPBL):c.3737C>G (p.Ala1246Gly)	rs121918268
NM_133433.4(NIPBL):c.4606C>T (p.Arg1536Ter)	rs121918269
NM_133433.4(NIPBL):c.5167C>T (p.Arg1723Ter)	rs121918267
NM_133433.4(NIPBL):c.7289A>G (p.Tyr2430Cys)	rs121918265
NM_133433.4(NIPBL):c.7306dup (p.Ala2436fs)	rs1561222491
NM_133433.4(NIPBL):c.7861-1G>C	rs1561231553

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