List of variants reported as uncertain significance for Cohen-Gibson syndrome

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: 18

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_003797.5(EED):c.532A>G (p.Ile178Val)	rs147440081	0.00041
NM_003797.5(EED):c.268-3T>C	rs200197749	0.00007
NM_003797.5(EED):c.9G>T (p.Glu3Asp)	rs773510026	0.00003
NM_003797.5(EED):c.44T>G (p.Met15Arg)	rs1200518953	0.00001
NM_003797.5(EED):c.73A>G (p.Ser25Gly)	rs1459981515	0.00001
NM_003797.5(EED):c.880A>G (p.Ile294Val)	rs781731485	0.00001
NM_003797.5(EED):c.1018A>G (p.Ile340Val)
NM_003797.5(EED):c.114+4A>C
NM_003797.5(EED):c.11G>A (p.Arg4Lys)	rs766472086
NM_003797.5(EED):c.11G>T (p.Arg4Met)
NM_003797.5(EED):c.17T>C (p.Val6Ala)	rs752828124
NM_003797.5(EED):c.266del (p.Lys89fs)
NM_003797.5(EED):c.397C>T (p.Arg133Trp)	rs745786094
NM_003797.5(EED):c.438C>G (p.Asn146Lys)	rs1565692818
NM_003797.5(EED):c.4T>C (p.Ser2Pro)
NM_003797.5(EED):c.50C>T (p.Ala17Val)	rs1945363239
NM_003797.5(EED):c.552+4G>A
NM_003797.5(EED):c.726T>C (p.Ala242=)

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.