ClinVar Miner

List of variants in gene CNGB1 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 29
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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.2700G>A (p.Thr900=) rs72782250 0.00722
NM_001297.5(CNGB1):c.-47A>G rs186471030 0.00462
NM_001297.5(CNGB1):c.3115G>A (p.Gly1039Arg) rs148999583 0.00372
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.2475C>T (p.Tyr825=) rs200934249 0.00180
NM_001297.5(CNGB1):c.1204G>A (p.Asp402Asn) rs140907154 0.00157
NM_001297.5(CNGB1):c.2957A>T (p.Asn986Ile) rs201162411 0.00116
NM_001297.5(CNGB1):c.3421G>A (p.Ala1141Thr) rs201449358 0.00051
NM_001297.5(CNGB1):c.412+8C>A rs185727761 0.00030
NM_001297.5(CNGB1):c.838-4G>T rs375539469 0.00022
NM_001297.5(CNGB1):c.2794+1G>A rs770011113 0.00009
NM_001297.5(CNGB1):c.1524G>A (p.Ser508=) rs754744074 0.00008
NM_001297.5(CNGB1):c.2634+7G>A rs751554370 0.00003
NM_001297.5(CNGB1):c.2893-7G>A rs749199721 0.00003
NM_001297.5(CNGB1):c.2284C>T (p.Arg762Cys) rs1028371920 0.00002
NM_001297.5(CNGB1):c.2603G>A (p.Gly868Asp) rs770961534 0.00001
NM_001297.5(CNGB1):c.2759G>A (p.Trp920Ter) rs1304758484 0.00001
NM_001297.5(CNGB1):c.2867del (p.Ile956fs) rs1231250334 0.00001
NM_001297.5(CNGB1):c.1120_1121+2del rs778884136
NM_001297.5(CNGB1):c.135G>A (p.Glu45=)
NM_001297.5(CNGB1):c.2030G>T (p.Arg677Leu) rs375519490
NM_001297.5(CNGB1):c.2501G>A (p.Arg834His) rs761295014
NM_001297.5(CNGB1):c.315G>A (p.Trp105Ter) rs1420628245
NM_001297.5(CNGB1):c.3244C>T (p.Arg1082Cys) rs199780945
NM_001297.5(CNGB1):c.3340G>C (p.Ala1114Pro) rs200242407
NM_001297.5(CNGB1):c.821G>T (p.Gly274Val)

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