ClinVar Miner

List of variants in gene CNGB1 reported as benign by Illumina Laboratory Services, Illumina

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Gene type:
ClinVar version:
Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_001297.5(CNGB1):c.2635-10C>T rs437920 0.77649
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.*919G>A rs1477405 0.39247
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.1958-14A>C rs3991715 0.30656
NM_001297.5(CNGB1):c.2193C>T (p.Asn731=) rs376270 0.30588
NM_001297.5(CNGB1):c.*836C>T rs165999 0.23733
NM_001297.5(CNGB1):c.2233C>A (p.Leu745Ile) rs10459809 0.14066
NM_001297.5(CNGB1):c.*1233T>C rs9932826 0.13345
NM_001297.5(CNGB1):c.1644T>C (p.Asp548=) rs2161703 0.12201
NM_001297.5(CNGB1):c.*310T>C rs57309302 0.11688
NM_001297.5(CNGB1):c.*33A>G rs13338071 0.11360
NM_001297.5(CNGB1):c.*1292A>C rs9934916 0.11300
NM_001297.5(CNGB1):c.2732A>G (p.Lys911Arg) rs2303785 0.08900
NM_001297.5(CNGB1):c.1950G>C (p.Pro650=) rs35424571 0.06391
NM_001297.5(CNGB1):c.1604T>C (p.Val535Ala) rs12927214 0.05991
NM_001297.5(CNGB1):c.440T>G (p.Leu147Arg) rs61997173 0.03447
NM_001297.5(CNGB1):c.1473G>A (p.Pro491=) rs9925973 0.03233
NM_001297.5(CNGB1):c.453C>T (p.Asp151=) rs16959602 0.03121
NM_001297.5(CNGB1):c.534+7C>G rs16959600 0.03025
NM_001297.5(CNGB1):c.2892+6C>T rs16942441 0.02927
NM_001297.5(CNGB1):c.1373-11C>A rs2303782 0.00856
NM_001297.5(CNGB1):c.257G>A (p.Arg86Gln) rs8055343
NM_001297.5(CNGB1):c.2664C>A (p.Ala888=) rs413562
NM_001297.5(CNGB1):c.2664C>G (p.Ala888=) rs413562
NM_001297.5(CNGB1):c.2881G>T (p.Ala961Ser) rs16942445
NM_001297.5(CNGB1):c.299G>A (p.Arg100His) rs13336595

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