List of variants reported as likely benign 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: 25

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_133433.4(NIPBL):c.1212C>T (p.Pro404=)	rs80358349	0.00048
NM_133433.4(NIPBL):c.2447G>A (p.Arg816His)	rs80358359	0.00028
NM_133433.4(NIPBL):c.7728T>C (p.Tyr2576=)	rs371347218	0.00026
NM_133433.4(NIPBL):c.1833T>A (p.Ser611Arg)	rs199546324	0.00016
NM_133433.4(NIPBL):c.2903A>G (p.Asn968Ser)	rs180747605	0.00016
NM_133433.4(NIPBL):c.2448T>C (p.Arg816=)	rs139177541	0.00014
NM_133433.4(NIPBL):c.5981A>G (p.Asn1994Ser)	rs368028754	0.00011
NM_133433.4(NIPBL):c.6589+9A>T	rs370709104	0.00009
NM_133433.4(NIPBL):c.6590-9C>T	rs201043922	0.00008
NM_133433.4(NIPBL):c.3481C>T (p.Pro1161Ser)	rs557147929	0.00006
NM_133433.4(NIPBL):c.2931A>G (p.Glu977=)	rs587783913	0.00005
NM_133433.4(NIPBL):c.1988A>C (p.Gln663Pro)	rs149892167	0.00004
NM_133433.4(NIPBL):c.2768G>T (p.Gly923Val)	rs200991784	0.00003
NM_133433.4(NIPBL):c.6613A>G (p.Ser2205Gly)	rs587784018	0.00003
NM_133433.4(NIPBL):c.126T>C (p.Phe42=)	rs727504046	0.00002
NM_133433.4(NIPBL):c.5762A>G (p.Asn1921Ser)	rs587783983	0.00002
NM_133433.4(NIPBL):c.1392T>A (p.Pro464=)	rs555179389	0.00001
NM_133433.4(NIPBL):c.3660G>A (p.Ala1220=)	rs143252734	0.00001
NM_133433.4(NIPBL):c.5295G>A (p.Pro1765=)	rs758853244	0.00001
NM_133433.4(NIPBL):c.5979C>T (p.Asp1993=)	rs761030463	0.00001
NM_133433.4(NIPBL):c.6400C>T (p.Leu2134=)	rs372730081	0.00001
NM_133433.4(NIPBL):c.7641C>T (p.Leu2547=)	rs587784046	0.00001
NM_133433.4(NIPBL):c.772-8A>G	rs398124473	0.00001
NM_133433.4(NIPBL):c.4321-15A>G	rs587783946
NM_133433.4(NIPBL):c.6322G>A (p.Ala2108Thr)	rs587784006

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.