ClinVar Miner

List of variants in gene CNGB1 reported as pathogenic for Retinitis pigmentosa

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Total variants: 15
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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.2893-7G>A rs749199721 0.00003
NM_001297.5(CNGB1):c.2284C>T (p.Arg762Cys) rs1028371920 0.00002
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.1122-2A>T rs1596997875
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.315G>A (p.Trp105Ter) rs1420628245

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