List of variants in gene NIPBL reported as benign by Ambry Genetics

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: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_133433.4(NIPBL):c.5874C>T (p.Ser1958=)	rs61748200	0.13068
NM_133433.4(NIPBL):c.2021A>G (p.Asn674Ser)	rs3822471	0.12117
NM_133433.4(NIPBL):c.2469A>G (p.Lys823=)	rs293756	0.03533
NM_133433.4(NIPBL):c.3015A>G (p.Leu1005=)	rs1669445	0.03530
NM_133433.4(NIPBL):c.781T>G (p.Ser261Ala)	rs16903425	0.01529
NM_133433.4(NIPBL):c.3541A>C (p.Arg1181=)	rs35748854	0.00882
NM_133433.4(NIPBL):c.1965G>T (p.Glu655Asp)	rs80358350	0.00379
NM_133433.4(NIPBL):c.535G>A (p.Ala179Thr)	rs142923613	0.00365
NM_133433.4(NIPBL):c.6109-3T>C	rs145778995	0.00354
NM_133433.4(NIPBL):c.1985A>G (p.Lys662Arg)	rs140100861	0.00095
NM_133433.4(NIPBL):c.2294G>A (p.Arg765Lys)	rs185678374	0.00061
NM_133433.4(NIPBL):c.179A>G (p.Asn60Ser)	rs142703446	0.00029
NM_133433.4(NIPBL):c.2903A>G (p.Asn968Ser)	rs180747605	0.00016
NM_133433.4(NIPBL):c.7524TTCAGA[3] (p.2508DS[3])	rs587784044

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.