List of variants in gene CNGB3 reported as pathogenic by GeneDx

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: 8

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HGVS	dbSNP	gnomAD frequency
NM_019098.5(CNGB3):c.1148del (p.Thr383fs)	rs397515360	0.00183
NM_019098.5(CNGB3):c.298del (p.Glu100fs)	rs1358283016	0.00001
NM_019098.5(CNGB3):c.644-1G>C	rs201794629	0.00001
NM_019098.5(CNGB3):c.1119G>A (p.Trp373Ter)	rs786204762
NM_019098.5(CNGB3):c.1245_1246del (p.Gln415fs)	rs1585981462
NM_019098.5(CNGB3):c.1578+1G>T	rs372006750
NM_019098.5(CNGB3):c.819_826del (p.Arg274fs)	rs775796581
NM_019098.5(CNGB3):c.886_896delinsT (p.Thr296fs)	rs886063161

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