ClinVar Miner

List of variants in gene CNGB1 reported as benign

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 93
Download table as spreadsheet
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.*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_001297.5(CNGB1):c.*836C>T rs165999 0.23733
NM_001297.5(CNGB1):c.534+20G>A rs2288485 0.17092
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.1950G>C (p.Pro650=) rs35424571 0.06391
NM_001297.5(CNGB1):c.1604T>C (p.Val535Ala) rs12927214 0.05991
NM_001297.5(CNGB1):c.2882C>T (p.Ala961Val) rs112002818 0.04307
NM_001297.5(CNGB1):c.440T>G (p.Leu147Arg) rs61997173 0.03447
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.218-18T>C rs115569700 0.02305
NM_001297.5(CNGB1):c.2854G>A (p.Val952Met) rs79889567 0.02173
NM_001297.5(CNGB1):c.105G>A (p.Ala35=) rs61997250 0.01932
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.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.2700G>A (p.Thr900=) rs72782250 0.00722
NM_001297.5(CNGB1):c.1122-18C>T rs79540781 0.00520
NM_001297.5(CNGB1):c.1500C>T (p.Thr500=) rs75406397 0.00513
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.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.1580C>T (p.Ala527Val) rs78292723 0.00257
NM_001297.5(CNGB1):c.159+14C>T rs199591689 0.00255
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.2492+19C>G rs184343851 0.00096
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.3717G>T (p.Ser1239=) rs202083169 0.00052
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.933G>A (p.Pro311=) rs557276296 0.00032
NM_001297.5(CNGB1):c.412+8C>A rs185727761 0.00030
NM_001297.5(CNGB1):c.3366G>A (p.Lys1122=) rs751822516 0.00023
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.2514T>C (p.Phe838=) rs370767664 0.00016
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.1435C>A (p.Leu479Ile) rs2303783 0.00014
NM_001297.5(CNGB1):c.2976+8G>C rs374813501 0.00007
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.90G>A (p.Glu30=) rs375219355 0.00002
GRCh37/hg19 16q21(chr16:57965720-58000714)x3
NM_001297.5(CNGB1):c.1089GGA[6] (p.Glu371dup) rs141566950
NM_001297.5(CNGB1):c.1275C>G (p.Ala425=) rs376016716
NM_001297.5(CNGB1):c.1643+39C>G rs247065
NM_001297.5(CNGB1):c.1957+11G>A rs190910346
NM_001297.5(CNGB1):c.2217+9C>T rs368099688
NM_001297.5(CNGB1):c.2369+13del rs1960769381
NM_001297.5(CNGB1):c.257G>A (p.Arg86Gln) rs8055343
NM_001297.5(CNGB1):c.2634+8G>A rs369567117
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.2881G>T (p.Ala961Ser) rs16942445
NM_001297.5(CNGB1):c.299G>A (p.Arg100His) rs13336595

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.