List of variants in gene CNGB1 reported as likely pathogenic by Blueprint Genetics

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: 7

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HGVS	dbSNP	gnomAD frequency
NM_001297.5(CNGB1):c.11G>A (p.Trp4Ter)	rs201976061	0.00037
NM_001297.5(CNGB1):c.2794+1G>A	rs770011113	0.00009
NM_001297.5(CNGB1):c.1431C>A (p.Cys477Ter)	rs1468272829
NM_001297.5(CNGB1):c.1958-1G>A	rs888090139
NM_001297.5(CNGB1):c.2034G>A (p.Trp678Ter)	rs1960899756
NM_001297.5(CNGB1):c.2088C>G (p.Tyr696Ter)	rs1210263161
NM_001297.5(CNGB1):c.3131_3149del (p.Ala1044fs)	rs1365926616

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