List of variants in gene KCNV2 reported as pathogenic for Cone dystrophy

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: 4

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HGVS	dbSNP	gnomAD frequency
NM_133497.4(KCNV2):c.778A>T (p.Lys260Ter)	rs139027297	0.00003
NM_133497.4(KCNV2):c.1186G>T (p.Gly396Ter)	rs138924201
NM_133497.4(KCNV2):c.1356+3_1356+6del	rs748084580
NM_133497.4(KCNV2):c.442G>A (p.Glu148Lys)	rs140256288

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