ClinVar Miner

List of variants in gene CNGB1 reported as uncertain significance by Eurofins NTD LLC (GA)

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Total variants: 21
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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.878G>A (p.Ser293Asn) rs146170855 0.00105
NM_001297.5(CNGB1):c.2747G>A (p.Arg916His) rs137853902 0.00071
NM_001297.5(CNGB1):c.2370-9C>T rs374373659 0.00055
NM_001297.5(CNGB1):c.2209C>T (p.Arg737Cys) rs192843629 0.00045
NM_001297.5(CNGB1):c.1631C>T (p.Pro544Leu) rs145234666 0.00042
NM_001297.5(CNGB1):c.1828G>A (p.Ala610Thr) rs201302946 0.00024
NM_001297.5(CNGB1):c.838-4G>T rs375539469 0.00022
NM_001297.5(CNGB1):c.2990G>A (p.Arg997His) rs199552115 0.00019
NM_001297.5(CNGB1):c.1478C>T (p.Pro493Leu) rs148555948 0.00017
NM_001297.5(CNGB1):c.2869G>A (p.Val957Ile) rs189261750 0.00014
NM_001297.5(CNGB1):c.2656G>A (p.Ala886Thr) rs758922488 0.00006
NM_001297.5(CNGB1):c.2978G>A (p.Gly993Glu) rs121918532 0.00006
NM_001297.5(CNGB1):c.2266G>A (p.Gly756Ser) rs398123605 0.00004
NM_001297.5(CNGB1):c.291-5C>T rs372308762 0.00004
NM_001297.5(CNGB1):c.285G>T (p.Met95Ile) rs376053977 0.00002
NM_001297.5(CNGB1):c.3305G>A (p.Arg1102Gln) rs368987059 0.00002
NM_001297.5(CNGB1):c.3019G>C (p.Val1007Leu) rs765061130 0.00001
NM_001297.5(CNGB1):c.3339C>T (p.Leu1113=) rs748808412 0.00001
NM_001297.5(CNGB1):c.705C>T (p.Pro235=) rs748140894 0.00001
NM_001297.5(CNGB1):c.49C>T (p.Arg17Trp) rs200694933

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