List of variants reported as uncertain significance for Cornelia de Lange syndrome 1 by Revvity Omics, Revvity

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: 16

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_133433.4(NIPBL):c.5101T>C (p.Ser1701Pro)	rs139819353	0.00023
NM_133433.4(NIPBL):c.941T>C (p.Ile314Thr)	rs368151265	0.00007
NM_133433.4(NIPBL):c.2511G>C (p.Gln837His)	rs201163469	0.00003
NM_133433.4(NIPBL):c.1434G>A (p.Glu478=)	rs750562280	0.00001
NM_133433.4(NIPBL):c.1783A>T (p.Asn595Tyr)	rs751966925	0.00001
NM_133433.4(NIPBL):c.2087C>T (p.Thr696Ile)	rs763785383	0.00001
NM_133433.4(NIPBL):c.306G>T (p.Arg102Ser)	rs778661285	0.00001
NM_133433.4(NIPBL):c.3392G>C (p.Ser1131Thr)	rs368022392	0.00001
NM_133433.4(NIPBL):c.5182A>G (p.Arg1728Gly)	rs772765625	0.00001
NM_133433.4(NIPBL):c.1273C>G (p.Gln425Glu)	rs1554015229
NM_133433.4(NIPBL):c.1832G>A (p.Ser611Asn)	rs761864879
NM_133433.4(NIPBL):c.194T>G (p.Leu65Arg)	rs2478987276
NM_133433.4(NIPBL):c.2278C>T (p.His760Tyr)	rs1466832100
NM_133433.4(NIPBL):c.2746A>G (p.Lys916Glu)	rs2477937562
NM_133433.4(NIPBL):c.2824C>A (p.Pro942Thr)	rs2477938891
NM_133433.4(NIPBL):c.6705_6707del (p.Lys2235del)	rs797045778

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.