List of variants in gene CNGB1 reported as 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: 10

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HGVS	dbSNP	gnomAD frequency
NM_001297.5(CNGB1):c.2957A>T (p.Asn986Ile)	rs201162411	0.00116
NM_001297.5(CNGB1):c.413-1G>A	rs189234741	0.00010
NM_001297.5(CNGB1):c.2185C>T (p.Arg729Ter)	rs1352458826	0.00002
NM_001297.5(CNGB1):c.2495A>G (p.Tyr832Cys)	rs756885471	0.00001
NM_001297.5(CNGB1):c.952C>T (p.Gln318Ter)	rs372504780	0.00001
NM_001297.5(CNGB1):c.1373-1G>A	rs1961362638
NM_001297.5(CNGB1):c.2527dup (p.Leu843fs)	rs1451575280
NM_001297.5(CNGB1):c.2544dup (p.Leu849fs)	rs760430056
NM_001297.5(CNGB1):c.3139_3142dup (p.Ala1048fs)	rs756806434
NM_001297.5(CNGB1):c.3150del (p.Phe1051fs)	rs753353134

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