ClinVar Miner

List of variants in gene CNGB1 reported as likely benign for not provided

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Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 428
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HGVS dbSNP gnomAD frequency
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.-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.232G>A (p.Ala78Thr) rs201407276 0.00131
NM_001297.5(CNGB1):c.1288G>A (p.Glu430Lys) rs189230735 0.00118
NM_001297.5(CNGB1):c.878G>A (p.Ser293Asn) rs146170855 0.00105
NM_001297.5(CNGB1):c.2526C>T (p.Thr842=) rs185729258 0.00076
NM_001297.5(CNGB1):c.3584C>G (p.Ser1195Cys) rs201186180 0.00066
NM_001297.5(CNGB1):c.635C>T (p.Thr212Ile) rs376293844 0.00059
NM_001297.5(CNGB1):c.2370-9C>T rs374373659 0.00055
NM_001297.5(CNGB1):c.3421G>A (p.Ala1141Thr) rs201449358 0.00051
NM_001297.5(CNGB1):c.2209C>T (p.Arg737Cys) rs192843629 0.00045
NM_001297.5(CNGB1):c.1024A>G (p.Lys342Glu) rs201203400 0.00043
NM_001297.5(CNGB1):c.2681G>A (p.Arg894His) rs146762538 0.00043
NM_001297.5(CNGB1):c.3114C>T (p.Gly1038=) rs142930143 0.00036
NM_001297.5(CNGB1):c.1209+17G>A rs372846873 0.00033
NM_001297.5(CNGB1):c.1472C>T (p.Pro491Leu) rs199960733 0.00029
NM_001297.5(CNGB1):c.2054C>T (p.Pro685Leu) rs199594245 0.00027
NM_001297.5(CNGB1):c.1854C>T (p.Ala618=) rs572930933 0.00026
NM_001297.5(CNGB1):c.2370-19C>T rs758363643 0.00025
NM_001297.5(CNGB1):c.1373-16C>G rs375237309 0.00024
NM_001297.5(CNGB1):c.721G>A (p.Ala241Thr) rs145325764 0.00024
NM_001297.5(CNGB1):c.838-4G>T rs375539469 0.00022
NM_001297.5(CNGB1):c.1464C>T (p.Thr488=) rs372219689 0.00017
NM_001297.5(CNGB1):c.1478C>T (p.Pro493Leu) rs148555948 0.00017
NM_001297.5(CNGB1):c.1803C>A (p.Ser601=) rs201290058 0.00017
NM_001297.5(CNGB1):c.2794+14G>A rs184150317 0.00017
NM_001297.5(CNGB1):c.1028T>C (p.Met343Thr) rs202174131 0.00015
NM_001297.5(CNGB1):c.1401G>A (p.Val467=) rs762031587 0.00015
NM_001297.5(CNGB1):c.160-12C>T rs374210189 0.00015
NM_001297.5(CNGB1):c.2935C>T (p.Arg979Cys) rs532187086 0.00015
NM_001297.5(CNGB1):c.1179C>T (p.Asp393=) rs377042647 0.00014
NM_001297.5(CNGB1):c.2869G>A (p.Val957Ile) rs189261750 0.00014
NM_001297.5(CNGB1):c.2893-4A>G rs200104597 0.00014
NM_001297.5(CNGB1):c.3750G>A (p.Ala1250=) rs553830954 0.00014
NM_001297.5(CNGB1):c.762-4G>T rs555762663 0.00013
NM_001297.5(CNGB1):c.109G>A (p.Val37Met) rs552372867 0.00011
NM_001297.5(CNGB1):c.1185C>T (p.Thr395=) rs543195555 0.00011
NM_001297.5(CNGB1):c.291-8C>T rs375078087 0.00011
NM_001297.5(CNGB1):c.1035-8C>T rs369784327 0.00010
NM_001297.5(CNGB1):c.1668G>A (p.Thr556=) rs200720590 0.00010
NM_001297.5(CNGB1):c.2055G>A (p.Pro685=) rs374574053 0.00010
NM_001297.5(CNGB1):c.2749G>A (p.Val917Ile) rs200022855 0.00010
NM_001297.5(CNGB1):c.165C>T (p.Pro55=) rs773046751 0.00009
NM_001297.5(CNGB1):c.2452C>A (p.Leu818Ile) rs200323140 0.00009
NM_001297.5(CNGB1):c.3132C>T (p.Ala1044=) rs369503135 0.00009
NM_001297.5(CNGB1):c.1524G>A (p.Ser508=) rs754744074 0.00008
NM_001297.5(CNGB1):c.1589C>G (p.Pro530Arg) rs201553871 0.00008
NM_001297.5(CNGB1):c.2436A>G (p.Ala812=) rs372268628 0.00008
NM_001297.5(CNGB1):c.3096-14C>T rs531122937 0.00008
NM_001297.5(CNGB1):c.374C>T (p.Pro125Leu) rs202053550 0.00008
NM_001297.5(CNGB1):c.584-9G>A rs150499027 0.00008
NM_001297.5(CNGB1):c.138C>T (p.Ala46=) rs753557311 0.00007
NM_001297.5(CNGB1):c.2748C>T (p.Arg916=) rs553434558 0.00007
NM_001297.5(CNGB1):c.2862C>T (p.Tyr954=) rs763416913 0.00007
NM_001297.5(CNGB1):c.1209+18C>A rs370097431 0.00006
NM_001297.5(CNGB1):c.2098C>T (p.Leu700Phe) rs181974243 0.00006
NM_001297.5(CNGB1):c.217+8C>T rs765712517 0.00006
NM_001297.5(CNGB1):c.2197C>T (p.Leu733=) rs370180993 0.00006
NM_001297.5(CNGB1):c.2218-8G>C rs768380522 0.00006
NM_001297.5(CNGB1):c.2277C>T (p.Pro759=) rs754026500 0.00006
NM_001297.5(CNGB1):c.256C>T (p.Arg86Trp) rs750609245 0.00006
NM_001297.5(CNGB1):c.2958C>T (p.Asn986=) rs543509332 0.00006
NM_001297.5(CNGB1):c.3728C>T (p.Pro1243Leu) rs372109962 0.00006
NM_001297.5(CNGB1):c.568G>A (p.Ala190Thr) rs758848800 0.00006
NM_001297.5(CNGB1):c.1644-19T>C rs749556464 0.00005
NM_001297.5(CNGB1):c.1958-18C>T rs756676900 0.00005
NM_001297.5(CNGB1):c.2661C>T (p.Thr887=) rs1204094593 0.00005
NM_001297.5(CNGB1):c.3304C>T (p.Arg1102Trp) rs201231319 0.00005
NM_001297.5(CNGB1):c.3729G>A (p.Pro1243=) rs534779665 0.00005
NM_001297.5(CNGB1):c.1122-10C>T rs756469092 0.00004
NM_001297.5(CNGB1):c.1353C>T (p.Ala451=) rs779439140 0.00004
NM_001297.5(CNGB1):c.1659G>A (p.Ala553=) rs368827832 0.00004
NM_001297.5(CNGB1):c.1770C>T (p.Asp590=) rs770735553 0.00004
NM_001297.5(CNGB1):c.1870G>C (p.Glu624Gln) rs373159617 0.00004
NM_001297.5(CNGB1):c.2238G>C (p.Leu746=) rs752032092 0.00004
NM_001297.5(CNGB1):c.2265C>T (p.Val755=) rs377213253 0.00004
NM_001297.5(CNGB1):c.2492+18C>A rs778126589 0.00004
NM_001297.5(CNGB1):c.2778C>T (p.His926=) rs749321305 0.00004
NM_001297.5(CNGB1):c.2868C>T (p.Ile956=) rs765832106 0.00004
NM_001297.5(CNGB1):c.291-5C>T rs372308762 0.00004
NM_001297.5(CNGB1):c.3560G>A (p.Arg1187Gln) rs543712958 0.00004
NM_001297.5(CNGB1):c.3687G>A (p.Pro1229=) rs373319029 0.00004
NM_001297.5(CNGB1):c.412+12G>A rs573010503 0.00004
NM_001297.5(CNGB1):c.583+19G>A rs376649332 0.00004
NM_001297.5(CNGB1):c.584-10C>T rs755551308 0.00004
NM_001297.5(CNGB1):c.584-19T>C rs748640095 0.00004
NM_001297.5(CNGB1):c.1802-14A>G rs751916833 0.00003
NM_001297.5(CNGB1):c.1957+12G>A rs200007250 0.00003
NM_001297.5(CNGB1):c.2880C>T (p.Val960=) rs373826585 0.00003
NM_001297.5(CNGB1):c.3330C>T (p.Asn1110=) rs566102644 0.00003
NM_001297.5(CNGB1):c.3483C>T (p.Val1161=) rs776024444 0.00003
NM_001297.5(CNGB1):c.561T>A (p.Ala187=) rs747372673 0.00003
NM_001297.5(CNGB1):c.819T>C (p.His273=) rs749951105 0.00003
NM_001297.5(CNGB1):c.8G>A (p.Gly3Asp) rs565729841 0.00003
NM_001297.5(CNGB1):c.1121+15C>T rs181122498 0.00002
NM_001297.5(CNGB1):c.1482T>C (p.Ser494=) rs769840807 0.00002
NM_001297.5(CNGB1):c.1581G>A (p.Ala527=) rs368368294 0.00002
NM_001297.5(CNGB1):c.1776C>T (p.Thr592=) rs777684696 0.00002
NM_001297.5(CNGB1):c.2223C>T (p.Asp741=) rs970213918 0.00002
NM_001297.5(CNGB1):c.2370-18G>A rs770908387 0.00002
NM_001297.5(CNGB1):c.2538C>T (p.Ile846=) rs777592241 0.00002
NM_001297.5(CNGB1):c.2541G>A (p.Gly847=) rs746598185 0.00002
NM_001297.5(CNGB1):c.2763C>T (p.Tyr921=) rs534055212 0.00002
NM_001297.5(CNGB1):c.2794+7T>C rs746057353 0.00002
NM_001297.5(CNGB1):c.3129G>A (p.Thr1043=) rs748180946 0.00002
NM_001297.5(CNGB1):c.3543C>T (p.Thr1181=) rs375919369 0.00002
NM_001297.5(CNGB1):c.3693G>A (p.Pro1231=) rs756850659 0.00002
NM_001297.5(CNGB1):c.413-17A>G rs376253635 0.00002
NM_001297.5(CNGB1):c.429C>T (p.Pro143=) rs1454628486 0.00002
NM_001297.5(CNGB1):c.1002A>G (p.Glu334=) rs765545643 0.00001
NM_001297.5(CNGB1):c.1122-20C>T rs1442136933 0.00001
NM_001297.5(CNGB1):c.1372+10G>A rs531364050 0.00001
NM_001297.5(CNGB1):c.1372+12G>T rs372132297 0.00001
NM_001297.5(CNGB1):c.1373-5C>T rs777877102 0.00001
NM_001297.5(CNGB1):c.1383G>A (p.Thr461=) rs773350723 0.00001
NM_001297.5(CNGB1):c.1443A>G (p.Ala481=) rs755279299 0.00001
NM_001297.5(CNGB1):c.150C>T (p.Ser50=) rs774668919 0.00001
NM_001297.5(CNGB1):c.1523C>T (p.Ser508Leu) rs539534716 0.00001
NM_001297.5(CNGB1):c.1535+10T>C rs781197120 0.00001
NM_001297.5(CNGB1):c.1555G>A (p.Asp519Asn) rs570021916 0.00001
NM_001297.5(CNGB1):c.1632G>A (p.Pro544=) rs768335062 0.00001
NM_001297.5(CNGB1):c.1695C>T (p.Asn565=) rs757874189 0.00001
NM_001297.5(CNGB1):c.1820C>T (p.Pro607Leu) rs760888982 0.00001
NM_001297.5(CNGB1):c.1863G>A (p.Val621=) rs753172645 0.00001
NM_001297.5(CNGB1):c.1958-17G>A rs745894002 0.00001
NM_001297.5(CNGB1):c.1958-5C>T rs751832118 0.00001
NM_001297.5(CNGB1):c.1974A>G (p.Leu658=) rs371859814 0.00001
NM_001297.5(CNGB1):c.2091A>G (p.Leu697=) rs767102177 0.00001
NM_001297.5(CNGB1):c.2136C>G (p.Arg712=) rs1357921223 0.00001
NM_001297.5(CNGB1):c.2167-12C>T rs772769638 0.00001
NM_001297.5(CNGB1):c.217+9G>A rs748749893 0.00001
NM_001297.5(CNGB1):c.2181C>T (p.Asp727=) rs184804201 0.00001
NM_001297.5(CNGB1):c.2199G>C (p.Leu733=) rs764979394 0.00001
NM_001297.5(CNGB1):c.2217+12G>A rs777814810 0.00001
NM_001297.5(CNGB1):c.2217+7G>T rs565658156 0.00001
NM_001297.5(CNGB1):c.224A>G (p.Lys75Arg) rs371360464 0.00001
NM_001297.5(CNGB1):c.2451C>A (p.Gly817=) rs1174140196 0.00001
NM_001297.5(CNGB1):c.2493-11T>C rs199851973 0.00001
NM_001297.5(CNGB1):c.2601G>A (p.Thr867=) rs371181221 0.00001
NM_001297.5(CNGB1):c.2604C>T (p.Gly868=) rs377024297 0.00001
NM_001297.5(CNGB1):c.2658C>T (p.Ala886=) rs748162177 0.00001
NM_001297.5(CNGB1):c.2766G>A (p.Glu922=) rs1435534464 0.00001
NM_001297.5(CNGB1):c.2781G>A (p.Ser927=) rs780026351 0.00001
NM_001297.5(CNGB1):c.2844C>T (p.Leu948=) rs376791249 0.00001
NM_001297.5(CNGB1):c.2892+9T>A rs754913975 0.00001
NM_001297.5(CNGB1):c.2964T>C (p.Tyr988=) rs762804346 0.00001
NM_001297.5(CNGB1):c.2976+15C>A rs536264127 0.00001
NM_001297.5(CNGB1):c.2979G>A (p.Gly993=) rs749626938 0.00001
NM_001297.5(CNGB1):c.3033C>T (p.Gly1011=) rs772877765 0.00001
NM_001297.5(CNGB1):c.3095+7C>T rs752889241 0.00001
NM_001297.5(CNGB1):c.3180G>A (p.Lys1060=) rs367764281 0.00001
NM_001297.5(CNGB1):c.3242+9C>A rs371348182 0.00001
NM_001297.5(CNGB1):c.3432G>A (p.Ala1144=) rs755577473 0.00001
NM_001297.5(CNGB1):c.3463-16C>T rs1181884132 0.00001
NM_001297.5(CNGB1):c.381+11G>A rs1962297747 0.00001
NM_001297.5(CNGB1):c.382-15G>A rs747578508 0.00001
NM_001297.5(CNGB1):c.535-18G>A rs200699915 0.00001
NM_001297.5(CNGB1):c.585G>A (p.Ala195=) rs530319460 0.00001
NM_001297.5(CNGB1):c.705C>T (p.Pro235=) rs748140894 0.00001
NM_001297.5(CNGB1):c.713G>A (p.Gly238Asp) rs201703193 0.00001
NM_001297.5(CNGB1):c.753C>T (p.Asp251=) rs1447319158 0.00001
NM_001297.5(CNGB1):c.804G>A (p.Pro268=) rs374802929 0.00001
NM_001297.5(CNGB1):c.837+10G>A rs761624038 0.00001
NM_001297.5(CNGB1):c.855G>A (p.Gly285=) rs372101208 0.00001
NM_001297.5(CNGB1):c.873C>A (p.Thr291=) rs181481207 0.00001
NM_001297.5(CNGB1):c.1011C>T (p.Asn337=)
NM_001297.5(CNGB1):c.1020G>A (p.Val340=) rs2149381747
NM_001297.5(CNGB1):c.1032C>T (p.Pro344=) rs1288321792
NM_001297.5(CNGB1):c.1034+16A>G rs1961916903
NM_001297.5(CNGB1):c.1035-15C>G
NM_001297.5(CNGB1):c.1083G>A (p.Glu361=)
NM_001297.5(CNGB1):c.1098G>A (p.Glu366=)
NM_001297.5(CNGB1):c.1101G>A (p.Glu367=)
NM_001297.5(CNGB1):c.1121+18C>T rs2149381272
NM_001297.5(CNGB1):c.1122-12C>T rs1444911901
NM_001297.5(CNGB1):c.1122-36_1122-19del rs2149376643
NM_001297.5(CNGB1):c.1122-7G>A rs2149376622
NM_001297.5(CNGB1):c.1125_1126delinsAA (p.Leu376Met) rs2149376612
NM_001297.5(CNGB1):c.1149G>A (p.Ser383=)
NM_001297.5(CNGB1):c.117A>G (p.Pro39=) rs1393132132
NM_001297.5(CNGB1):c.1209+10G>A
NM_001297.5(CNGB1):c.1209+17G>C rs372846873
NM_001297.5(CNGB1):c.1210-8C>T
NM_001297.5(CNGB1):c.1210-9T>A
NM_001297.5(CNGB1):c.1269G>A (p.Glu423=) rs1466108668
NM_001297.5(CNGB1):c.1275C>G (p.Ala425=) rs376016716
NM_001297.5(CNGB1):c.1275C>T (p.Ala425=) rs376016716
NM_001297.5(CNGB1):c.1278G>A (p.Glu426=) rs1352097038
NM_001297.5(CNGB1):c.1308G>A (p.Glu436=)
NM_001297.5(CNGB1):c.1323G>A (p.Ala441=)
NM_001297.5(CNGB1):c.1329C>A (p.Thr443=)
NM_001297.5(CNGB1):c.1329C>T (p.Thr443=)
NM_001297.5(CNGB1):c.135G>A (p.Glu45=)
NM_001297.5(CNGB1):c.1372+7GTG[4]
NM_001297.5(CNGB1):c.1373-15C>T
NM_001297.5(CNGB1):c.1373-3C>A rs564200357
NM_001297.5(CNGB1):c.1431C>T (p.Cys477=)
NM_001297.5(CNGB1):c.1438A>C (p.Met480Leu) rs541893675
NM_001297.5(CNGB1):c.1458C>G (p.Pro486=)
NM_001297.5(CNGB1):c.1500C>G (p.Thr500=) rs75406397
NM_001297.5(CNGB1):c.150C>G (p.Ser50=)
NM_001297.5(CNGB1):c.1535+9T>C
NM_001297.5(CNGB1):c.1536-10G>A
NM_001297.5(CNGB1):c.159+14C>A
NM_001297.5(CNGB1):c.159+19G>A rs2149390113
NM_001297.5(CNGB1):c.159+9T>A
NM_001297.5(CNGB1):c.160-11G>C rs371750276
NM_001297.5(CNGB1):c.160-8C>A
NM_001297.5(CNGB1):c.1604_1605inv (p.Val535Ala)
NM_001297.5(CNGB1):c.1643+10C>G
NM_001297.5(CNGB1):c.1643+10C>T rs758483672
NM_001297.5(CNGB1):c.1643+18T>C
NM_001297.5(CNGB1):c.1643+8C>T rs1435310484
NM_001297.5(CNGB1):c.1644-15G>T rs1480402895
NM_001297.5(CNGB1):c.1644-18T>C
NM_001297.5(CNGB1):c.1644-4A>C
NM_001297.5(CNGB1):c.1667C>A (p.Thr556Lys) rs199836349
NM_001297.5(CNGB1):c.1667C>T (p.Thr556Met) rs199836349
NM_001297.5(CNGB1):c.1704C>T (p.Leu568=) rs2149366520
NM_001297.5(CNGB1):c.1770C>G (p.Asp590Glu) rs770735553
NM_001297.5(CNGB1):c.1782T>C (p.Asp594=) rs1423138817
NM_001297.5(CNGB1):c.1801+11A>G
NM_001297.5(CNGB1):c.1801+13C>G
NM_001297.5(CNGB1):c.1821A>C (p.Pro607=)
NM_001297.5(CNGB1):c.1824G>A (p.Glu608=)
NM_001297.5(CNGB1):c.1845C>T (p.Pro615=)
NM_001297.5(CNGB1):c.1875C>T (p.His625=) rs1287450394
NM_001297.5(CNGB1):c.1881C>T (p.Cys627=)
NM_001297.5(CNGB1):c.1908C>T (p.His636=)
NM_001297.5(CNGB1):c.1947C>T (p.Asp649=)
NM_001297.5(CNGB1):c.1950G>A (p.Pro650=)
NM_001297.5(CNGB1):c.1950G>T (p.Pro650=)
NM_001297.5(CNGB1):c.1958-19C>T
NM_001297.5(CNGB1):c.1978C>T (p.Leu660=)
NM_001297.5(CNGB1):c.2025C>T (p.Pro675=)
NM_001297.5(CNGB1):c.2037C>A (p.Ala679=)
NM_001297.5(CNGB1):c.2061C>T (p.Asn687=) rs2149364832
NM_001297.5(CNGB1):c.2076G>T (p.Leu692=) rs2149364820
NM_001297.5(CNGB1):c.2094C>T (p.Cys698=) rs563059002
NM_001297.5(CNGB1):c.210C>T (p.Ser70=)
NM_001297.5(CNGB1):c.2115C>T (p.Asp705=)
NM_001297.5(CNGB1):c.2118C>T (p.Ile706=)
NM_001297.5(CNGB1):c.2121C>T (p.Thr707=)
NM_001297.5(CNGB1):c.2124G>T (p.Val708=) rs2149364776
NM_001297.5(CNGB1):c.2148C>T (p.Val716=)
NM_001297.5(CNGB1):c.2160C>T (p.Asp720=)
NM_001297.5(CNGB1):c.2166+7C>T rs2149364734
NM_001297.5(CNGB1):c.2167-16A>T rs1960864970
NM_001297.5(CNGB1):c.2167-7C>G rs2149364185
NM_001297.5(CNGB1):c.217+20C>A rs753948720
NM_001297.5(CNGB1):c.217+8C>A
NM_001297.5(CNGB1):c.218-14A>G
NM_001297.5(CNGB1):c.2185C>A (p.Arg729=) rs1352458826
NM_001297.5(CNGB1):c.2217+10G>A rs376776815
NM_001297.5(CNGB1):c.2217+10G>T rs376776815
NM_001297.5(CNGB1):c.2217+17C>T
NM_001297.5(CNGB1):c.2217+18A>G rs2149364107
NM_001297.5(CNGB1):c.2217+19A>G
NM_001297.5(CNGB1):c.2217+20G>A
NM_001297.5(CNGB1):c.2218-20G>T rs991894154
NM_001297.5(CNGB1):c.2280C>T (p.Leu760=)
NM_001297.5(CNGB1):c.2304+13G>A
NM_001297.5(CNGB1):c.2304+17C>G rs1369314934
NM_001297.5(CNGB1):c.2305-18G>A
NM_001297.5(CNGB1):c.2305-18G>C
NM_001297.5(CNGB1):c.2305-4C>G
NM_001297.5(CNGB1):c.2361C>T (p.Tyr787=) rs367678786
NM_001297.5(CNGB1):c.2369+10C>A rs1960769628
NM_001297.5(CNGB1):c.2369+10C>G rs1960769628
NM_001297.5(CNGB1):c.2369+11C>T rs2149362682
NM_001297.5(CNGB1):c.2369+12C>T rs757932867
NM_001297.5(CNGB1):c.2369+13C>G
NM_001297.5(CNGB1):c.2369+9C>A
NM_001297.5(CNGB1):c.2370-12T>C rs2149362111
NM_001297.5(CNGB1):c.2370-20G>T
NM_001297.5(CNGB1):c.2373C>A (p.Val791=) rs377762874
NM_001297.5(CNGB1):c.2373C>T (p.Val791=) rs377762874
NM_001297.5(CNGB1):c.2439G>A (p.Ser813=)
NM_001297.5(CNGB1):c.2454C>T (p.Leu818=) rs528283367
NM_001297.5(CNGB1):c.246C>G (p.Thr82=)
NM_001297.5(CNGB1):c.2492+19C>T
NM_001297.5(CNGB1):c.2493-11TC[5]
NM_001297.5(CNGB1):c.2493-20C>T
NM_001297.5(CNGB1):c.2493-7T>C rs1960502139
NM_001297.5(CNGB1):c.2520G>A (p.Val840=)
NM_001297.5(CNGB1):c.252C>T (p.Ser84=)
NM_001297.5(CNGB1):c.2532C>T (p.Ile844=)
NM_001297.5(CNGB1):c.2544G>A (p.Gly848=)
NM_001297.5(CNGB1):c.2544G>T (p.Gly848=)
NM_001297.5(CNGB1):c.2556C>A (p.Pro852=) rs761783040
NM_001297.5(CNGB1):c.25C>T (p.Leu9=)
NM_001297.5(CNGB1):c.2619T>C (p.Ser873=) rs1960494884
NM_001297.5(CNGB1):c.2628C>T (p.Ile876=)
NM_001297.5(CNGB1):c.2634+12C>A
NM_001297.5(CNGB1):c.2634+8G>A rs369567117
NM_001297.5(CNGB1):c.2634+9G>A
NM_001297.5(CNGB1):c.2635-10del rs777949032
NM_001297.5(CNGB1):c.2635-11C>T rs1248133549
NM_001297.5(CNGB1):c.2635-12C>A
NM_001297.5(CNGB1):c.2635-15T>C
NM_001297.5(CNGB1):c.2635-4C>A
NM_001297.5(CNGB1):c.2635-7C>T rs1222206370
NM_001297.5(CNGB1):c.2635-8del rs1478165117
NM_001297.5(CNGB1):c.2643T>C (p.Asp881=)
NM_001297.5(CNGB1):c.2655C>T (p.Ala885=)
NM_001297.5(CNGB1):c.267C>T (p.Gly89=)
NM_001297.5(CNGB1):c.2682C>T (p.Arg894=)
NM_001297.5(CNGB1):c.2721C>T (p.Tyr907=)
NM_001297.5(CNGB1):c.2727C>T (p.Ile909=)
NM_001297.5(CNGB1):c.2794+13C>T
NM_001297.5(CNGB1):c.2794+16C>T
NM_001297.5(CNGB1):c.2794+18T>C
NM_001297.5(CNGB1):c.2795-10T>G rs569149092
NM_001297.5(CNGB1):c.2795-13G>T
NM_001297.5(CNGB1):c.2847C>T (p.Ala949=)
NM_001297.5(CNGB1):c.2853C>A (p.Asp951Glu) rs7190978
NM_001297.5(CNGB1):c.2853C>T (p.Asp951=) rs7190978
NM_001297.5(CNGB1):c.2893-11C>T rs1052223234
NM_001297.5(CNGB1):c.2893-14C>T
NM_001297.5(CNGB1):c.2893-5G>C rs1960384662
NM_001297.5(CNGB1):c.2893-8C>G rs377216982
NM_001297.5(CNGB1):c.2893-8C>T rs377216982
NM_001297.5(CNGB1):c.2893-9C>A
NM_001297.5(CNGB1):c.290+11A>G rs1247230459
NM_001297.5(CNGB1):c.290+16C>A rs1200583364
NM_001297.5(CNGB1):c.290+8dup rs2149388533
NM_001297.5(CNGB1):c.291-14T>G
NM_001297.5(CNGB1):c.291-4G>A rs746431824
NM_001297.5(CNGB1):c.291-7A>G
NM_001297.5(CNGB1):c.2976+18C>A rs2149357302
NM_001297.5(CNGB1):c.2977-5T>A rs2149355780
NM_001297.5(CNGB1):c.297C>T (p.Ser99=) rs1012624729
NM_001297.5(CNGB1):c.2991T>G (p.Arg997=) rs1960279144
NM_001297.5(CNGB1):c.299G>T (p.Arg100Leu) rs13336595
NM_001297.5(CNGB1):c.3003C>T (p.Ile1001=) rs1355781082
NM_001297.5(CNGB1):c.3033C>A (p.Gly1011=) rs772877765
NM_001297.5(CNGB1):c.3063G>A (p.Thr1021=) rs902632425
NM_001297.5(CNGB1):c.306A>G (p.Val102=) rs1387808988
NM_001297.5(CNGB1):c.3111G>A (p.Gly1037=) rs761350175
NM_001297.5(CNGB1):c.3111G>T (p.Gly1037=)
NM_001297.5(CNGB1):c.3192G>A (p.Glu1064=) rs767959077
NM_001297.5(CNGB1):c.3242+17del rs775022391
NM_001297.5(CNGB1):c.3242+18C>T
NM_001297.5(CNGB1):c.3242+19G>A
NM_001297.5(CNGB1):c.3242+9C>T rs371348182
NM_001297.5(CNGB1):c.3282G>A (p.Lys1094=) rs1048461431
NM_001297.5(CNGB1):c.3289C>T (p.Leu1097=)
NM_001297.5(CNGB1):c.3333T>C (p.Ala1111=)
NM_001297.5(CNGB1):c.3402C>T (p.Ala1134=)
NM_001297.5(CNGB1):c.3420C>A (p.Ala1140=) rs371860152
NM_001297.5(CNGB1):c.3420C>T (p.Ala1140=) rs371860152
NM_001297.5(CNGB1):c.3423G>A (p.Ala1141=)
NM_001297.5(CNGB1):c.3444G>A (p.Gln1148=) rs754441053
NM_001297.5(CNGB1):c.345G>A (p.Pro115=)
NM_001297.5(CNGB1):c.3462+7_3462+8inv
NM_001297.5(CNGB1):c.3462+8G>T rs368962905
NM_001297.5(CNGB1):c.3463-17C>T
NM_001297.5(CNGB1):c.3463-8G>T
NM_001297.5(CNGB1):c.3474G>A (p.Ser1158=) rs375729452
NM_001297.5(CNGB1):c.3513C>T (p.Asp1171=)
NM_001297.5(CNGB1):c.354T>A (p.Val118=) rs1962299506
NM_001297.5(CNGB1):c.3552C>G (p.Pro1184=)
NM_001297.5(CNGB1):c.3558C>T (p.Pro1186=)
NM_001297.5(CNGB1):c.3573G>A (p.Glu1191=)
NM_001297.5(CNGB1):c.3582G>A (p.Gly1194=)
NM_001297.5(CNGB1):c.3591G>C (p.Pro1197=)
NM_001297.5(CNGB1):c.3648C>G (p.Ala1216=)
NM_001297.5(CNGB1):c.3654C>G (p.Pro1218=)
NM_001297.5(CNGB1):c.3654C>T (p.Pro1218=)
NM_001297.5(CNGB1):c.3693G>C (p.Pro1231=) rs756850659
NM_001297.5(CNGB1):c.3717G>C (p.Ser1239=) rs202083169
NM_001297.5(CNGB1):c.375G>A (p.Pro125=)
NM_001297.5(CNGB1):c.382-15G>T
NM_001297.5(CNGB1):c.382-24TGTC[3]
NM_001297.5(CNGB1):c.382-24TGTC[5] rs748831057
NM_001297.5(CNGB1):c.387G>A (p.Leu129=) rs1962293389
NM_001297.5(CNGB1):c.412+11G>A rs1962292262
NM_001297.5(CNGB1):c.412+17G>A
NM_001297.5(CNGB1):c.412+17G>C rs374522750
NM_001297.5(CNGB1):c.417C>T (p.Cys139=) rs1346391067
NM_001297.5(CNGB1):c.458+11A>G
NM_001297.5(CNGB1):c.459-12G>T
NM_001297.5(CNGB1):c.459-16A>G
NM_001297.5(CNGB1):c.469C>A (p.Arg157=)
NM_001297.5(CNGB1):c.477T>C (p.Leu159=)
NM_001297.5(CNGB1):c.49C>T (p.Arg17Trp) rs200694933
NM_001297.5(CNGB1):c.51G>A (p.Arg17=) rs2149390215
NM_001297.5(CNGB1):c.522C>T (p.Pro174=) rs1439592662
NM_001297.5(CNGB1):c.534+14G>A rs781549191
NM_001297.5(CNGB1):c.535-12_535-11insTC
NM_001297.5(CNGB1):c.535-19C>T
NM_001297.5(CNGB1):c.546T>C (p.Asp182=) rs779592384
NM_001297.5(CNGB1):c.583+18C>T
NM_001297.5(CNGB1):c.584-14T>C rs2149386601
NM_001297.5(CNGB1):c.618G>A (p.Lys206=) rs2149386558
NM_001297.5(CNGB1):c.657C>A (p.Ile219=) rs749813964
NM_001297.5(CNGB1):c.657C>T (p.Ile219=) rs749813964
NM_001297.5(CNGB1):c.681C>T (p.Pro227=)
NM_001297.5(CNGB1):c.699A>G (p.Pro233=)
NM_001297.5(CNGB1):c.702G>A (p.Glu234=) rs2149386497
NM_001297.5(CNGB1):c.711C>T (p.Pro237=)
NM_001297.5(CNGB1):c.714C>T (p.Gly238=) rs770568024
NM_001297.5(CNGB1):c.732C>T (p.Ser244=)
NM_001297.5(CNGB1):c.738G>A (p.Leu246=) rs2149386438
NM_001297.5(CNGB1):c.747C>G (p.Thr249=)
NM_001297.5(CNGB1):c.761+13C>T rs1338061290
NM_001297.5(CNGB1):c.761+9C>T rs2149386406
NM_001297.5(CNGB1):c.762-11C>T
NM_001297.5(CNGB1):c.762-15C>G
NM_001297.5(CNGB1):c.763C>T (p.Leu255=)
NM_001297.5(CNGB1):c.783C>T (p.His261=)
NM_001297.5(CNGB1):c.787C>T (p.Leu263=)
NM_001297.5(CNGB1):c.838-12C>T
NM_001297.5(CNGB1):c.874+11C>T rs1403119121
NM_001297.5(CNGB1):c.875-11G>A
NM_001297.5(CNGB1):c.875-16C>T
NM_001297.5(CNGB1):c.875-20T>C
NM_001297.5(CNGB1):c.875-8C>A rs1314153462
NM_001297.5(CNGB1):c.875-8C>T rs1314153462
NM_001297.5(CNGB1):c.906T>C (p.Pro302=) rs2149381813
NM_001297.5(CNGB1):c.969C>T (p.Ser323=) rs1961919236
NM_001297.5(CNGB1):c.978T>C (p.Gly326=) rs2149381773

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