ClinVar Miner

Variants in gene CNGB1 with conflicting interpretations "likely benign" and "benign"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 22
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HGVS dbSNP gnomAD frequency
NM_001297.5(CNGB1):c.1122-15C>T rs2303778 0.46316
NM_001297.5(CNGB1):c.2854G>A (p.Val952Met) rs79889567 0.02173
NM_001297.5(CNGB1):c.1382C>T (p.Thr461Met) rs147593839 0.00806
NM_001297.5(CNGB1):c.1643+13del rs3217335 0.00748
NM_001297.5(CNGB1):c.1479G>A (p.Pro493=) rs1052029 0.00308
NM_001297.5(CNGB1):c.1626C>T (p.Thr542=) rs148735841 0.00308
NM_001297.5(CNGB1):c.3147C>T (p.His1049=) rs200581517 0.00275
NM_001297.5(CNGB1):c.159+14C>T rs199591689 0.00255
NM_001297.5(CNGB1):c.2475C>T (p.Tyr825=) rs200934249 0.00180
NM_001297.5(CNGB1):c.2526C>T (p.Thr842=) rs185729258 0.00076
NM_001297.5(CNGB1):c.3135C>T (p.Asn1045=) rs539304668 0.00075
NM_001297.5(CNGB1):c.3584C>G (p.Ser1195Cys) rs201186180 0.00066
NM_001297.5(CNGB1):c.2370-9C>T rs374373659 0.00055
NM_001297.5(CNGB1):c.595C>T (p.Arg199Cys) rs199583058 0.00054
NM_001297.5(CNGB1):c.838-4G>T rs375539469 0.00022
NM_001297.5(CNGB1):c.139G>A (p.Glu47Lys) rs78149232 0.00018
NM_001297.5(CNGB1):c.458+7C>T rs368819628 0.00016
NM_001297.5(CNGB1):c.1179C>T (p.Asp393=) rs377042647 0.00014
NM_001297.5(CNGB1):c.3560G>A (p.Arg1187Gln) rs543712958 0.00004
NM_001297.5(CNGB1):c.1275C>G (p.Ala425=) rs376016716
NM_001297.5(CNGB1):c.2634+8G>A rs369567117
NM_001297.5(CNGB1):c.2853C>A (p.Asp951Glu) rs7190978

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