List of variants in gene CNGB1 reported 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
		ClinVar version:

Total variants: 27

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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.2209C>T (p.Arg737Cys)	rs192843629	0.00045
NM_001297.5(CNGB1):c.1024A>G (p.Lys342Glu)	rs201203400	0.00043
NM_001297.5(CNGB1):c.1631C>T (p.Pro544Leu)	rs145234666	0.00042
NM_001297.5(CNGB1):c.11G>A (p.Trp4Ter)	rs201976061	0.00037
NM_001297.5(CNGB1):c.3286G>A (p.Val1096Met)	rs376128303	0.00019
NM_001297.5(CNGB1):c.2629G>A (p.Gly877Arg)	rs200963831	0.00011
NM_001297.5(CNGB1):c.413-1G>A	rs189234741	0.00010
NM_001297.5(CNGB1):c.2794+1G>A	rs770011113	0.00009
NM_001297.5(CNGB1):c.2127C>G (p.Phe709Leu)	rs370536830	0.00002
NM_001297.5(CNGB1):c.2185C>T (p.Arg729Ter)	rs1352458826	0.00002
NM_001297.5(CNGB1):c.2239C>A (p.Pro747Thr)	rs974336687	0.00002
NM_001297.5(CNGB1):c.2733G>C (p.Lys911Asn)	rs1012577997	0.00002
NM_001297.5(CNGB1):c.2294G>A (p.Arg765His)	rs761839551	0.00001
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.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.2302A>C (p.Lys768Gln)	rs1960832607
NM_001297.5(CNGB1):c.2527dup (p.Leu843fs)	rs1451575280
NM_001297.5(CNGB1):c.2544dup (p.Leu849fs)	rs760430056
NM_001297.5(CNGB1):c.3131_3149del (p.Ala1044fs)	rs1365926616
NM_001297.5(CNGB1):c.3139_3142dup (p.Ala1048fs)	rs756806434
NM_001297.5(CNGB1):c.3150del (p.Phe1051fs)	rs753353134

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