List of variants in gene KCNV2 reported as likely pathogenic for Cone dystrophy with supernormal rod response

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_133497.4(KCNV2):c.1A>G (p.Met1Val)	rs760755040	0.00001
NC_000009.11:g.2716981_2787016del
NM_133497.4(KCNV2):c.1096del (p.Val366fs)	rs1486482604
NM_133497.4(KCNV2):c.1199del (p.Phe400fs)	rs768486552
NM_133497.4(KCNV2):c.1381G>A (p.Gly461Arg)	rs149648640
NM_133497.4(KCNV2):c.153T>G (p.Tyr51Ter)	rs950492553
NM_133497.4(KCNV2):c.339C>A (p.Cys113Ter)	rs202036979
NM_133497.4(KCNV2):c.417C>A (p.Cys139Ter)	rs748280472
NM_133497.4(KCNV2):c.427G>T (p.Glu143Ter)	rs104894113

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.