ClinVar Miner

List of variants in gene CNGB1 reported by Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001297.5(CNGB1):c.1382C>T (p.Thr461Met) rs147593839 0.00806
NM_001297.5(CNGB1):c.2681G>A (p.Arg894His) rs146762538 0.00043
NM_001297.5(CNGB1):c.2096A>G (p.Asp699Gly) rs878853393
NM_001297.5(CNGB1):c.2544dup (p.Leu849fs) rs760430056
NM_001297.5(CNGB1):c.262C>T (p.Gln88Ter) rs878853394
NM_001297.5(CNGB1):c.2893G>A (p.Gly965Ser) rs559591083

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