ClinVar Miner

List of variants in gene CNGB1 studied for Retinitis pigmentosa 45

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Total variants: 78
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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.3527C>T (p.Pro1176Leu) rs73562944 0.01041
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.1626C>T (p.Thr542=) rs148735841 0.00308
NM_001297.5(CNGB1):c.159+14C>T rs199591689 0.00255
NM_001297.5(CNGB1):c.1204G>A (p.Asp402Asn) rs140907154 0.00157
NM_001297.5(CNGB1):c.232G>A (p.Ala78Thr) rs201407276 0.00131
NM_001297.5(CNGB1):c.2957A>T (p.Asn986Ile) rs201162411 0.00116
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.11G>A (p.Trp4Ter) rs201976061 0.00037
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.1654C>T (p.Arg552Cys) rs370932519 0.00016
NM_001297.5(CNGB1):c.109G>A (p.Val37Met) rs552372867 0.00011
NM_001297.5(CNGB1):c.413-1G>A rs189234741 0.00010
NM_001297.5(CNGB1):c.2662G>A (p.Ala888Thr) rs368328328 0.00009
NM_001297.5(CNGB1):c.2794+1G>A rs770011113 0.00009
NM_001297.5(CNGB1):c.1589C>G (p.Pro530Arg) rs201553871 0.00008
NM_001297.5(CNGB1):c.2098C>T (p.Leu700Phe) rs181974243 0.00006
NM_001297.5(CNGB1):c.2958C>T (p.Asn986=) rs543509332 0.00006
NM_001297.5(CNGB1):c.1699C>T (p.Arg567Trp) rs556362158 0.00005
NM_001297.5(CNGB1):c.1210-2A>G rs373232101 0.00003
NM_001297.5(CNGB1):c.2501G>T (p.Arg834Leu) rs761295014 0.00003
NM_001297.5(CNGB1):c.2893-7G>A rs749199721 0.00003
NM_001297.5(CNGB1):c.217+5G>C rs527236060 0.00002
NM_001297.5(CNGB1):c.2210G>A (p.Arg737His) rs764107600 0.00002
NM_001297.5(CNGB1):c.2284C>T (p.Arg762Cys) rs1028371920 0.00002
NM_001297.5(CNGB1):c.3G>A (p.Met1Ile) rs1230824209 0.00002
NM_001297.5(CNGB1):c.1676C>A (p.Thr559Lys) rs768874859 0.00001
NM_001297.5(CNGB1):c.2293C>T (p.Arg765Cys) rs771833874 0.00001
NM_001297.5(CNGB1):c.2508C>A (p.Tyr836Ter) rs1064794573 0.00001
NM_001297.5(CNGB1):c.2582del (p.Gln861fs) rs772330738 0.00001
NM_001297.5(CNGB1):c.2902C>T (p.Arg968Trp) rs780651730 0.00001
NM_001297.5(CNGB1):c.2921T>G (p.Met974Arg) rs752967885 0.00001
NM_001297.5(CNGB1):c.2977-2del rs750373166 0.00001
NM_001297.5(CNGB1):c.952C>T (p.Gln318Ter) rs372504780 0.00001
NM_001297.5(CNGB1):c.1089GGA[6] (p.Glu371dup) rs141566950
NM_001297.5(CNGB1):c.1418A>G (p.Asp473Gly) rs769808679
NM_001297.5(CNGB1):c.1492del (p.Ser498fs) rs2149372033
NM_001297.5(CNGB1):c.1643+39C>G rs247065
NM_001297.5(CNGB1):c.1658C>A (p.Ala553Glu) rs374424738
NM_001297.5(CNGB1):c.1741A>G (p.Lys581Glu) rs1960999459
NM_001297.5(CNGB1):c.1881C>A (p.Cys627Ter) rs369525244
NM_001297.5(CNGB1):c.1896C>A (p.Cys632Ter) rs774264204
NM_001297.5(CNGB1):c.1958-1G>A rs888090139
NM_001297.5(CNGB1):c.2095G>A (p.Asp699Asn) rs746268207
NM_001297.5(CNGB1):c.2543G>T (p.Gly848Val) rs758072259
NM_001297.5(CNGB1):c.2544del (p.Leu849fs) rs760430056
NM_001297.5(CNGB1):c.2544dup (p.Leu849fs) rs760430056
NM_001297.5(CNGB1):c.2603dup (p.Val869fs) rs2149359033
NM_001297.5(CNGB1):c.2634+2T>C rs2149359022
NM_001297.5(CNGB1):c.2635-2A>T rs2149358592
NM_001297.5(CNGB1):c.2664C>G (p.Ala888=) rs413562
NM_001297.5(CNGB1):c.2762_2765del (p.Tyr921fs) rs1064794342
NM_001297.5(CNGB1):c.2775G>A (p.Trp925Ter) rs2149358455
NM_001297.5(CNGB1):c.2885T>G (p.Leu962Arg)
NM_001297.5(CNGB1):c.2978G>T (p.Gly993Val) rs121918532
NM_001297.5(CNGB1):c.299G>A (p.Arg100His) rs13336595
NM_001297.5(CNGB1):c.3131_3149del (p.Ala1044fs) rs1365926616
NM_001297.5(CNGB1):c.3150del (p.Phe1051fs) rs753353134
NM_001297.5(CNGB1):c.3462+1G>A rs1567360969
NM_001297.5(CNGB1):c.832G>C (p.Glu278Gln) rs1263336688
NM_001297.5(CNGB1):c.973C>T (p.Gln325Ter) rs1961919100

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