List of variants in gene CNGB3 reported as pathogenic for Leber congenital amaurosis

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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: 3

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HGVS	dbSNP	gnomAD frequency
NM_019098.5(CNGB3):c.1148del (p.Thr383fs)	rs397515360	0.00183
NM_019098.5(CNGB3):c.819_826del (p.Arg274fs)	rs775796581
NM_019098.5(CNGB3):c.991-3T>G	rs773372519

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