ClinVar Miner

List of variants in gene CNGB1 reported as benign for Retinitis pigmentosa 45

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_001297.5(CNGB1):c.875-39C>T rs152143 0.98924
NM_001297.5(CNGB1):c.2635-10C>T rs437920 0.77649
NM_001297.5(CNGB1):c.217+46G>A rs3859043 0.70935
NM_001297.5(CNGB1):c.838-36G>A rs503686 0.65836
NM_001297.5(CNGB1):c.1801+23T>C rs166000 0.63352
NM_001297.5(CNGB1):c.2218-12C>T rs483053 0.49292
NM_001297.5(CNGB1):c.1122-15C>T rs2303778 0.46316
NM_001297.5(CNGB1):c.3462+7T>C rs11076207 0.37846
NM_001297.5(CNGB1):c.327C>T (p.Gly109=) rs17821448 0.36508
NM_001297.5(CNGB1):c.2193C>T (p.Asn731=) rs376270 0.30588
NM_001297.5(CNGB1):c.2233C>A (p.Leu745Ile) rs10459809 0.14066
NM_001297.5(CNGB1):c.2854G>A (p.Val952Met) rs79889567 0.02173
NM_001297.5(CNGB1):c.2700G>A (p.Thr900=) rs72782250 0.00722
NM_001297.5(CNGB1):c.1122-18C>T rs79540781 0.00520
NM_001297.5(CNGB1):c.1479G>A (p.Pro493=) rs1052029 0.00308
NM_001297.5(CNGB1):c.159+14C>T rs199591689 0.00255
NM_001297.5(CNGB1):c.1643+39C>G rs247065
NM_001297.5(CNGB1):c.2664C>G (p.Ala888=) rs413562
NM_001297.5(CNGB1):c.299G>A (p.Arg100His) rs13336595

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