ClinVar Miner

List of variants in gene CNGB1 reported by Illumina Laboratory Services, Illumina

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Gene type:
ClinVar version:
Total variants: 210
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HGVS dbSNP gnomAD frequency
NM_001297.5(CNGB1):c.2635-10C>T rs437920 0.77649
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.*919G>A rs1477405 0.39247
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.1958-14A>C rs3991715 0.30656
NM_001297.5(CNGB1):c.2193C>T (p.Asn731=) rs376270 0.30588
NM_001297.4(CNGB1):c.*1827T>A rs6499920 0.26556
NM_001297.4(CNGB1):c.*1826T>A rs7202369 0.25527
NM_001297.5(CNGB1):c.*836C>T rs165999 0.23733
NM_001297.5(CNGB1):c.2233C>A (p.Leu745Ile) rs10459809 0.14066
NM_001297.5(CNGB1):c.*1233T>C rs9932826 0.13345
NM_001297.5(CNGB1):c.1644T>C (p.Asp548=) rs2161703 0.12201
NM_001297.5(CNGB1):c.*310T>C rs57309302 0.11688
NM_001297.5(CNGB1):c.*33A>G rs13338071 0.11360
NM_001297.5(CNGB1):c.*1292A>C rs9934916 0.11300
NM_001297.5(CNGB1):c.2732A>G (p.Lys911Arg) rs2303785 0.08900
NM_001297.5(CNGB1):c.*595C>G rs79806773 0.06925
NM_001297.5(CNGB1):c.1950G>C (p.Pro650=) rs35424571 0.06391
NM_001297.5(CNGB1):c.1604T>C (p.Val535Ala) rs12927214 0.05991
NM_001297.5(CNGB1):c.*1228C>G rs1477406 0.05245
NM_001297.4(CNGB1):c.*1828A>T rs2405132 0.04938
NM_001297.5(CNGB1):c.2882C>T (p.Ala961Val) rs112002818 0.04307
NM_001297.5(CNGB1):c.*675G>A rs72782246 0.04128
NM_001297.5(CNGB1):c.440T>G (p.Leu147Arg) rs61997173 0.03447
NM_001297.5(CNGB1):c.*1671A>G rs117526439 0.03428
NM_001297.5(CNGB1):c.1473G>A (p.Pro491=) rs9925973 0.03233
NM_001297.5(CNGB1):c.453C>T (p.Asp151=) rs16959602 0.03121
NM_001297.5(CNGB1):c.534+7C>G rs16959600 0.03025
NM_001297.5(CNGB1):c.2517T>C (p.Ala839=) rs17821412 0.02990
NM_001297.5(CNGB1):c.2892+6C>T rs16942441 0.02927
NM_001297.5(CNGB1):c.3556C>T (p.Pro1186Ser) rs7190372 0.02335
NM_001297.5(CNGB1):c.105G>A (p.Ala35=) rs61997250 0.01932
NM_001297.5(CNGB1):c.*244A>G rs112033454 0.01826
NM_001297.5(CNGB1):c.*281T>C rs116564376 0.01516
NM_001297.5(CNGB1):c.3378C>T (p.Gly1126=) rs11867123 0.01433
NM_001297.5(CNGB1):c.712G>A (p.Gly238Ser) rs61745888 0.01420
NM_001297.5(CNGB1):c.606A>G (p.Glu202=) rs76788887 0.01379
NM_001297.5(CNGB1):c.*493C>T rs73562940 0.01368
NM_001297.5(CNGB1):c.3527C>T (p.Pro1176Leu) rs73562944 0.01041
NM_001297.5(CNGB1):c.2481C>T (p.Gly827=) rs77399988 0.00895
NM_001297.5(CNGB1):c.1373-11C>A rs2303782 0.00856
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.*1518T>G rs114514618 0.00733
NM_001297.5(CNGB1):c.*954T>C rs114952307 0.00731
NM_001297.5(CNGB1):c.2700G>A (p.Thr900=) rs72782250 0.00722
NM_001297.5(CNGB1):c.1500C>T (p.Thr500=) rs75406397 0.00513
NM_001297.5(CNGB1):c.*1462A>G rs78908517 0.00491
NM_001297.5(CNGB1):c.123G>A (p.Pro41=) rs41482547 0.00487
NM_001297.5(CNGB1):c.634A>T (p.Thr212Ser) rs192628905 0.00486
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.*1429T>C rs139212660 0.00267
NM_001297.5(CNGB1):c.1580C>T (p.Ala527Val) rs78292723 0.00257
NM_001297.5(CNGB1):c.159+14C>T rs199591689 0.00255
NM_001297.4(CNGB1):c.*1825T>A rs142906711 0.00238
NM_001297.5(CNGB1):c.761+15A>G rs187864931 0.00227
NM_001297.5(CNGB1):c.376G>C (p.Ala126Pro) rs200332871 0.00219
NM_001297.5(CNGB1):c.3340G>A (p.Ala1114Thr) rs200242407 0.00213
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.*1606G>A rs185229037 0.00137
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.878G>A (p.Ser293Asn) rs146170855 0.00105
NM_001297.5(CNGB1):c.*1680T>C rs560377423 0.00094
NM_001297.5(CNGB1):c.*116G>A rs182224027 0.00088
NM_001297.5(CNGB1):c.3135C>T (p.Asn1045=) rs539304668 0.00075
NM_001297.5(CNGB1):c.2747G>A (p.Arg916His) rs137853902 0.00071
NM_001297.5(CNGB1):c.3584C>G (p.Ser1195Cys) rs201186180 0.00066
NM_001297.5(CNGB1):c.*1018A>C rs146438867 0.00065
NM_001297.5(CNGB1):c.*1637C>T rs192644670 0.00064
NM_001297.5(CNGB1):c.2370-9C>T rs374373659 0.00055
NM_001297.5(CNGB1):c.3717G>T (p.Ser1239=) rs202083169 0.00052
NM_001297.5(CNGB1):c.3421G>A (p.Ala1141Thr) rs201449358 0.00051
NM_001297.5(CNGB1):c.*321G>C rs77128930 0.00050
NM_001297.5(CNGB1):c.*228T>G rs183796279 0.00046
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.1631C>T (p.Pro544Leu) rs145234666 0.00042
NM_001297.5(CNGB1):c.2850C>T (p.Ile950=) rs563734833 0.00037
NM_001297.5(CNGB1):c.*967C>T rs796880965 0.00032
NM_001297.5(CNGB1):c.412+8C>A rs185727761 0.00030
NM_001297.5(CNGB1):c.1854C>T (p.Ala618=) rs572930933 0.00026
NM_001297.5(CNGB1):c.3366G>A (p.Lys1122=) rs751822516 0.00023
NM_001297.5(CNGB1):c.*1544T>C rs551005635 0.00022
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.*1149G>A rs886052187 0.00018
NM_001297.5(CNGB1):c.*820G>A rs184852651 0.00018
NM_001297.5(CNGB1):c.139G>A (p.Glu47Lys) rs78149232 0.00018
NM_001297.5(CNGB1):c.1803C>A (p.Ser601=) rs201290058 0.00017
NM_001297.5(CNGB1):c.2514T>C (p.Phe838=) rs370767664 0.00016
NM_001297.5(CNGB1):c.1028T>C (p.Met343Thr) rs202174131 0.00015
NM_001297.5(CNGB1):c.1179C>T (p.Asp393=) rs377042647 0.00014
NM_001297.5(CNGB1):c.1435C>A (p.Leu479Ile) rs2303783 0.00014
NM_001297.5(CNGB1):c.3379G>A (p.Gly1127Ser) rs373477921 0.00012
NM_001297.5(CNGB1):c.*1148C>T rs996430580 0.00011
NM_001297.5(CNGB1):c.-68G>A rs892657374 0.00011
NM_001297.5(CNGB1):c.413-1G>A rs189234741 0.00010
NM_001297.5(CNGB1):c.*451G>C rs191296025 0.00009
NM_001297.5(CNGB1):c.*980C>T rs560274550 0.00009
NM_001297.5(CNGB1):c.2452C>A (p.Leu818Ile) rs200323140 0.00009
NM_001297.5(CNGB1):c.2662G>A (p.Ala888Thr) rs368328328 0.00009
NM_001297.5(CNGB1):c.1589C>G (p.Pro530Arg) rs201553871 0.00008
NM_001297.5(CNGB1):c.2862C>T (p.Tyr954=) rs763416913 0.00007
NM_001297.5(CNGB1):c.2098C>T (p.Leu700Phe) rs181974243 0.00006
NM_001297.5(CNGB1):c.2634+6G>A rs374018113 0.00006
NM_001297.5(CNGB1):c.2958C>T (p.Asn986=) rs543509332 0.00006
NM_001297.5(CNGB1):c.2978G>A (p.Gly993Glu) rs121918532 0.00006
NM_001297.5(CNGB1):c.*1676A>G rs971052014 0.00005
NM_001297.5(CNGB1):c.1322C>T (p.Ala441Val) rs376374823 0.00005
NM_001297.5(CNGB1):c.1733G>A (p.Arg578Gln) rs371998765 0.00005
NM_001297.5(CNGB1):c.*235G>C rs886052190 0.00004
NM_001297.5(CNGB1):c.*264T>G rs1369634786 0.00004
NM_001297.5(CNGB1):c.*730C>A rs554017838 0.00004
NM_001297.5(CNGB1):c.1870G>C (p.Glu624Gln) rs373159617 0.00004
NM_001297.5(CNGB1):c.3309G>A (p.Ala1103=) rs201319323 0.00004
NM_001297.5(CNGB1):c.3560G>A (p.Arg1187Gln) rs543712958 0.00004
NM_001297.5(CNGB1):c.534+1G>A rs200862689 0.00004
NM_001297.5(CNGB1):c.*111T>C rs556523294 0.00003
NM_001297.5(CNGB1):c.*601G>A rs574111364 0.00003
NM_001297.5(CNGB1):c.1802-14A>G rs751916833 0.00003
NM_001297.5(CNGB1):c.2501G>T (p.Arg834Leu) rs761295014 0.00003
NM_001297.5(CNGB1):c.3330C>T (p.Asn1110=) rs566102644 0.00003
NM_001297.5(CNGB1):c.417C>A (p.Cys139Ter) rs1346391067 0.00003
NM_001297.5(CNGB1):c.-25G>A rs776035875 0.00002
NM_001297.5(CNGB1):c.1482T>C (p.Ser494=) rs769840807 0.00002
NM_001297.5(CNGB1):c.545A>T (p.Asp182Val) rs748928062 0.00002
NM_001297.5(CNGB1):c.*1741T>C rs1236550821 0.00001
NM_001297.5(CNGB1):c.*1810T>G rs1219818645 0.00001
NM_001297.5(CNGB1):c.*882G>A rs886052188 0.00001
NM_001297.5(CNGB1):c.151G>A (p.Glu51Lys) rs1489659962 0.00001
NM_001297.5(CNGB1):c.158T>C (p.Met53Thr) rs764636892 0.00001
NM_001297.5(CNGB1):c.1685C>T (p.Ala562Val) rs1213983177 0.00001
NM_001297.5(CNGB1):c.1863G>A (p.Val621=) rs753172645 0.00001
NM_001297.5(CNGB1):c.1957+6T>C rs1357196940 0.00001
NM_001297.5(CNGB1):c.2091A>G (p.Leu697=) rs767102177 0.00001
NM_001297.5(CNGB1):c.2154C>T (p.Gly718=) rs541698458 0.00001
NM_001297.5(CNGB1):c.2167-12C>T rs772769638 0.00001
NM_001297.5(CNGB1):c.21G>C (p.Arg7Ser) rs763447996 0.00001
NM_001297.5(CNGB1):c.2594A>C (p.Tyr865Ser) rs376025801 0.00001
NM_001297.5(CNGB1):c.2603G>A (p.Gly868Asp) rs770961534 0.00001
NM_001297.5(CNGB1):c.2844C>T (p.Leu948=) rs376791249 0.00001
NM_001297.5(CNGB1):c.3242+9C>A rs371348182 0.00001
NM_001297.5(CNGB1):c.3496G>A (p.Gly1166Ser) rs769142173 0.00001
NM_001297.5(CNGB1):c.358A>C (p.Ser120Arg) rs375397174 0.00001
NM_001297.5(CNGB1):c.3590C>A (p.Pro1197Gln) rs749978261 0.00001
NM_001297.5(CNGB1):c.585G>A (p.Ala195=) rs530319460 0.00001
NM_001297.5(CNGB1):c.713G>A (p.Gly238Asp) rs201703193 0.00001
NM_001297.5(CNGB1):c.873C>A (p.Thr291=) rs181481207 0.00001
NM_001297.4(CNGB1):c.*1837delA rs71268448
NM_001297.5(CNGB1):c.*1085A>G rs1959802217
NM_001297.5(CNGB1):c.*1351del rs886052186
NM_001297.5(CNGB1):c.*1363_*1364dup rs71155213
NM_001297.5(CNGB1):c.*1364del rs71155213
NM_001297.5(CNGB1):c.*1508C>T rs1346378346
NM_001297.5(CNGB1):c.*170C>G rs931662996
NM_001297.5(CNGB1):c.*1800C>T rs1959778647
NM_001297.5(CNGB1):c.*24C>A rs371395789
NM_001297.5(CNGB1):c.*611G>A rs886052189
NM_001297.5(CNGB1):c.*70C>G rs1959831823
NM_001297.5(CNGB1):c.*720A>G rs547306682
NM_001297.5(CNGB1):c.*738_*747del rs565641035
NM_001297.5(CNGB1):c.*837C>T rs900274353
NM_001297.5(CNGB1):c.*887CAAA[1] rs144307949
NM_001297.5(CNGB1):c.*900AAAG[1] rs866017919
NM_001297.5(CNGB1):c.*918C>A rs78514298
NM_001297.5(CNGB1):c.1034+14G>A rs1324984264
NM_001297.5(CNGB1):c.1056G>A (p.Glu352=) rs773973583
NM_001297.5(CNGB1):c.1089GGA[6] (p.Glu371dup) rs141566950
NM_001297.5(CNGB1):c.1149G>T (p.Ser383=) rs775050027
NM_001297.5(CNGB1):c.1275C>G (p.Ala425=) rs376016716
NM_001297.5(CNGB1):c.1373-3C>A rs564200357
NM_001297.5(CNGB1):c.1500C>G (p.Thr500=) rs75406397
NM_001297.5(CNGB1):c.1667C>A (p.Thr556Lys) rs199836349
NM_001297.5(CNGB1):c.1770C>G (p.Asp590Glu) rs770735553
NM_001297.5(CNGB1):c.1957+11G>A rs190910346
NM_001297.5(CNGB1):c.1958-8C>T rs886052192
NM_001297.5(CNGB1):c.2030G>T (p.Arg677Leu) rs375519490
NM_001297.5(CNGB1):c.2361C>T (p.Tyr787=) rs367678786
NM_001297.5(CNGB1):c.2412G>A (p.Leu804=) rs374417317
NM_001297.5(CNGB1):c.257G>A (p.Arg86Gln) rs8055343
NM_001297.5(CNGB1):c.2599A>G (p.Thr867Ala) rs1960495727
NM_001297.5(CNGB1):c.2623A>G (p.Met875Val) rs1960494720
NM_001297.5(CNGB1):c.2634+4T>C rs202096769
NM_001297.5(CNGB1):c.2634+5C>T rs372812881
NM_001297.5(CNGB1):c.2664C>A (p.Ala888=) rs413562
NM_001297.5(CNGB1):c.2664C>G (p.Ala888=) rs413562
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.2873G>A (p.Ser958Asn) rs1414083701
NM_001297.5(CNGB1):c.2881G>T (p.Ala961Ser) rs16942445
NM_001297.5(CNGB1):c.292C>T (p.Pro98Ser) rs570828500
NM_001297.5(CNGB1):c.299G>A (p.Arg100His) rs13336595
NM_001297.5(CNGB1):c.3244C>T (p.Arg1082Cys) rs199780945
NM_001297.5(CNGB1):c.3462+8G>T rs368962905
NM_001297.5(CNGB1):c.3609C>T (p.Ala1203=) rs1319835493
NM_001297.5(CNGB1):c.3639G>C (p.Glu1213Asp) rs886052191
NM_001297.5(CNGB1):c.3728C>G (p.Pro1243Arg) rs372109962
NM_001297.5(CNGB1):c.469C>T (p.Arg157Trp) rs775590206
NM_001297.5(CNGB1):c.629G>A (p.Arg210Gln) rs759153238
NM_001297.5(CNGB1):c.746C>A (p.Thr249Asn) rs556681458
NM_001297.5(CNGB1):c.802C>T (p.Pro268Ser) rs886052193
NM_001297.5(CNGB1):c.898G>A (p.Val300Met) rs763142627

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