List of variants in gene CUL7 reported as pathogenic for 3-M syndrome

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: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_014780.5(CUL7):c.3041T>G (p.Leu1014Arg)	rs61752334	0.00011
NM_014780.5(CUL7):c.2710C>T (p.Arg904Ter)	rs760910667	0.00001
NM_014780.5(CUL7):c.4318C>T (p.Arg1440Ter)	rs748555538	0.00001
NM_014780.5(CUL7):c.4391A>C (p.His1464Pro)	rs121918229	0.00001
NM_014780.5(CUL7):c.2130_2131delinsTGCCTG (p.Cys711fs)	rs1554138553
NM_014780.5(CUL7):c.2132dup (p.Cys711fs)	rs758737233
NM_014780.5(CUL7):c.2837_2840dup (p.Arg948fs)
NM_014780.5(CUL7):c.2943_2944del (p.Cys982fs)	rs1064792895
NM_014780.5(CUL7):c.3991_3992del (p.Leu1331fs)

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.