List of variants in gene CNKSR2 studied for CNKSR2-related disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 10

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_014927.5(CNKSR2):c.525T>C (p.Cys175=)	rs34161348	0.01010
NM_014927.5(CNKSR2):c.2610C>T (p.Asp870=)	rs139219013	0.00108
NM_014927.5(CNKSR2):c.1677C>T (p.Ser559=)	rs371945192	0.00013
NM_014927.5(CNKSR2):c.3010A>G (p.Thr1004Ala)	rs945685621	0.00001
NM_014927.5(CNKSR2):c.1905-1G>A
NM_014927.5(CNKSR2):c.2007A>G (p.Ala669=)	rs2519335839
NM_014927.5(CNKSR2):c.2019A>G (p.Glu673=)
NM_014927.5(CNKSR2):c.2637GGA[6] (p.Glu886del)	rs770084913
NM_014927.5(CNKSR2):c.2683G>A (p.Gly895Arg)	rs1230071869
NM_014927.5(CNKSR2):c.681+9T>C	rs2518970563

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.