List of variants reported as uncertain significance for Cornelia de Lange syndrome 1 by Genome-Nilou Lab

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
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.2603G>A (p.Arg868Gln)	rs149629686	0.00017
NM_133433.4(NIPBL):c.7418T>C (p.Val2473Ala)	rs185745349	0.00009
NM_133433.4(NIPBL):c.6312A>G (p.Lys2104=)	rs147865925	0.00008
NM_133433.4(NIPBL):c.5944A>C (p.Ile1982Leu)	rs370593530	0.00007
NM_133433.4(NIPBL):c.2065A>T (p.Asn689Tyr)	rs201482152	0.00003
NM_133433.4(NIPBL):c.8408C>G (p.Ser2803Cys)	rs587784058	0.00003
NM_133433.4(NIPBL):c.2592T>A (p.Asp864Glu)	rs80358365	0.00001
NM_133433.4(NIPBL):c.3109A>G (p.Lys1037Glu)	rs587783916	0.00001
NM_133433.4(NIPBL):c.2471C>T (p.Ser824Leu)	rs587783904
NM_133433.4(NIPBL):c.2584A>G (p.Lys862Glu)	rs1554017428
NM_133433.4(NIPBL):c.4429A>C (p.Ser1477Arg)	rs1554022448
NM_133433.4(NIPBL):c.4439T>G (p.Met1480Arg)	rs587783948
NM_133433.4(NIPBL):c.64+5G>A	rs587784011
NM_133433.4(NIPBL):c.8336C>T (p.Thr2779Met)	rs587784057

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.