List of variants in gene CNGB1 reported as pathogenic for amino acid metabolism disease

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: 28

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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.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.1589C>G (p.Pro530Arg)	rs201553871	0.00008
NM_001297.5(CNGB1):c.2893-7G>A	rs749199721	0.00003
NM_001297.5(CNGB1):c.217+5G>C	rs527236060	0.00002
NM_001297.5(CNGB1):c.2284C>T (p.Arg762Cys)	rs1028371920	0.00002
NM_001297.5(CNGB1):c.2285G>A (p.Arg762His)	rs760373259	0.00001
NM_001297.5(CNGB1):c.2508C>A (p.Tyr836Ter)	rs1064794573	0.00001
NM_001297.5(CNGB1):c.2603G>A (p.Gly868Asp)	rs770961534	0.00001
NM_001297.5(CNGB1):c.2867del (p.Ile956fs)	rs1231250334	0.00001
NM_001297.5(CNGB1):c.952C>T (p.Gln318Ter)	rs372504780	0.00001
NM_001297.5(CNGB1):c.1122-2A>T	rs1596997875
NM_001297.5(CNGB1):c.1492del (p.Ser498fs)	rs2149372033
NM_001297.5(CNGB1):c.1896C>A (p.Cys632Ter)	rs774264204
NM_001297.5(CNGB1):c.1957+2T>G	rs755398007
NM_001297.5(CNGB1):c.1958-1G>A	rs888090139
NM_001297.5(CNGB1):c.2166+1G>A	rs1596976316
NM_001297.5(CNGB1):c.2320G>A (p.Glu774Lys)	rs1286857064
NM_001297.5(CNGB1):c.2544dup (p.Leu849fs)	rs760430056
NM_001297.5(CNGB1):c.2762_2765del (p.Tyr921fs)	rs1064794342
NM_001297.5(CNGB1):c.2775G>A (p.Trp925Ter)	rs2149358455
NM_001297.5(CNGB1):c.2978G>T (p.Gly993Val)	rs121918532
NM_001297.5(CNGB1):c.3131_3149del (p.Ala1044fs)	rs1365926616
NM_001297.5(CNGB1):c.3150del (p.Phe1051fs)	rs753353134
NM_001297.5(CNGB1):c.315G>A (p.Trp105Ter)	rs1420628245
NM_001297.5(CNGB1):c.3462+1G>A	rs1567360969

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