List of variants in gene CNGB1 reported as likely pathogenic by NIHR Bioresource Rare Diseases, University of Cambridge

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: 9

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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.2185C>T (p.Arg729Ter)	rs1352458826	0.00002
NM_001297.5(CNGB1):c.2285G>A (p.Arg762His)	rs760373259	0.00001
NM_001297.5(CNGB1):c.262C>T (p.Gln88Ter)	rs878853394
NM_001297.5(CNGB1):c.2676C>A (p.Tyr892Ter)	rs1555488573
NM_001297.5(CNGB1):c.2980G>T (p.Glu994Ter)	rs1555488069
NM_001297.5(CNGB1):c.3139_3142dup (p.Ala1048fs)	rs756806434
NM_001297.5(CNGB1):c.664C>T (p.Gln222Ter)	rs750620302
NM_001297.5(CNGB1):c.761+2T>A	rs1555493707

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