ClinVar Miner

List of variants reported as benign for Senior-Loken syndrome

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 177
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HGVS dbSNP gnomAD frequency
NM_025132.4(WDR19):c.603+23C>T rs1451817 0.96807
NM_014956.5(CEP164):c.4299G>T (p.Ser1433=) rs522885 0.96045
NM_014956.5(CEP164):c.1482T>C (p.Pro494=) rs897836 0.93246
NM_025114.4(CEP290):c.6645+67G>A rs2471512 0.92687
NM_025114.4(CEP290):c.853-12_853-11insG rs71082425 0.87640
NM_025114.4(CEP290):c.2818-50G>C rs2471532 0.76931
NM_015650.4(TRAF3IP1):c.69C>A (p.Thr23=) rs13398676 0.72529
NM_001023570.4(IQCB1):c.574C>T (p.Leu192=) rs4543051 0.64838
NM_014956.5(CEP164):c.3090-16A>C rs693147 0.60559
NM_014956.5(CEP164):c.766-36T>A rs2305826 0.54836
NM_025132.4(WDR19):c.3716+46dup rs11096989 0.51347
NM_025132.4(WDR19):c.3841-27T>C rs12648082 0.51304
NM_014956.5(CEP164):c.3356A>G (p.Gln1119Arg) rs573455 0.47249
NM_006642.5(SDCCAG8):c.-47T>A rs3904682 0.41725
NM_006642.5(SDCCAG8):c.1725G>A (p.Glu575=) rs10927011 0.41204
NM_001128178.3(NPHP1):c.654G>A (p.Glu218=) rs11675767 0.38033
NM_015102.5(NPHP4):c.2802C>T (p.Arg934=) rs3747992 0.36928
NM_015102.5(NPHP4):c.3570A>G (p.Glu1190=) rs555164 0.35094
NM_025132.4(WDR19):c.3183+16A>G rs11096987 0.33074
NM_025132.4(WDR19):c.891C>T (p.Cys297=) rs2167494 0.30055
NM_014956.5(CEP164):c.2963C>G (p.Thr988Ser) rs2305830 0.28431
NM_006642.5(SDCCAG8):c.1473+48dup rs398050192 0.26150
NM_006642.5(SDCCAG8):c.1134A>T (p.Glu378Asp) rs2275155 0.25552
NM_001023570.4(IQCB1):c.1301G>A (p.Cys434Tyr) rs17849995 0.25469
NM_014956.5(CEP164):c.281G>A (p.Ser94Asn) rs490262 0.21761
NM_015102.5(NPHP4):c.1441+13A>G rs7520105 0.17476
NM_014956.5(CEP164):c.1935-5C>G rs897837 0.12409
NM_025114.4(CEP290):c.2055T>C (p.Ala685=) rs45465996 0.11965
NM_015102.5(NPHP4):c.2643G>A (p.Ala881=) rs3747990 0.11763
NM_015102.5(NPHP4):c.1926G>A (p.Glu642=) rs12120967 0.11732
NM_025132.4(WDR19):c.852A>G (p.Ser284=) rs17584431 0.11533
NM_001023570.4(IQCB1):c.1178T>A (p.Ile393Asn) rs1141528 0.09226
NM_025114.4(CEP290):c.3710G>A (p.Arg1237His) rs7307793 0.05381
NM_025114.4(CEP290):c.2512A>G (p.Lys838Glu) rs11104738 0.05247
NM_025132.4(WDR19):c.-9A>G rs60800612 0.05032
NM_015102.5(NPHP4):c.1470C>T (p.Leu490=) rs12116997 0.04804
NM_015102.5(NPHP4):c.86C>T (p.Thr29Met) rs12142270 0.04382
NM_025114.4(CEP290):c.2717T>G (p.Leu906Trp) rs7970228 0.04262
NM_025132.4(WDR19):c.910G>A (p.Val304Ile) rs75964850 0.03961
NM_014956.5(CEP164):c.2205C>T (p.Ser735=) rs494553 0.03797
NM_025132.4(WDR19):c.3250G>A (p.Gly1084Ser) rs16995209 0.03548
NM_001128178.3(NPHP1):c.771+39C>T rs73954628 0.03266
NM_015102.5(NPHP4):c.2724G>A (p.Ser908=) rs114545322 0.03032
NM_001023570.4(IQCB1):c.-193T>C rs114555283 0.02852
NM_001128178.3(NPHP1):c.115C>A (p.Pro39Thr) rs33958626 0.02731
NM_014956.5(CEP164):c.4119C>T (p.Asn1373=) rs73016324 0.02599
NM_014956.5(CEP164):c.1430A>G (p.His477Arg) rs117083334 0.02549
NM_025114.4(CEP290):c.4119A>G (p.Lys1373=) rs117122459 0.02390
NM_015102.5(NPHP4):c.2219G>A (p.Arg740His) rs34248917 0.02256
NM_006642.5(SDCCAG8):c.912C>T (p.Thr304=) rs976529 0.02103
NM_025114.4(CEP290):c.251-10A>T rs190383141 0.02052
NM_025114.4(CEP290):c.1991A>G (p.Asp664Gly) rs79705698 0.02050
NM_015102.5(NPHP4):c.*314T>G rs111874674 0.02020
NM_014956.5(CEP164):c.3927C>T (p.Thr1309=) rs115051850 0.01922
NM_025132.4(WDR19):c.1357-10T>C rs16995189 0.01827
NM_015102.5(NPHP4):c.3243G>C (p.Gly1081=) rs41280800 0.01658
NM_015102.5(NPHP4):c.1611+9C>T rs114900019 0.01637
NM_025114.4(CEP290):c.829G>C (p.Glu277Gln) rs45502896 0.01608
NM_014956.5(CEP164):c.3716C>T (p.Pro1239Leu) rs61995733 0.01531
NM_015102.5(NPHP4):c.2808G>A (p.Thr936=) rs17028857 0.01235
NM_015102.5(NPHP4):c.*128A>C rs116747881 0.01171
NM_001023570.4(IQCB1):c.1303C>T (p.Arg435Cys) rs11920543 0.01165
NM_014956.5(CEP164):c.194+13G>T rs116804346 0.01147
NM_015102.5(NPHP4):c.3479C>T (p.Pro1160Leu) rs113445782 0.01143
NM_001128178.3(NPHP1):c.689C>T (p.Ala230Val) rs113450177 0.01140
NM_015102.5(NPHP4):c.2031C>T (p.Pro677=) rs34373111 0.01102
NM_015102.5(NPHP4):c.1852G>A (p.Glu618Lys) rs571655 0.01009
NM_015102.5(NPHP4):c.3876C>T (p.Gly1292=) rs115526767 0.00982
NM_025132.4(WDR19):c.1607G>C (p.Ser536Thr) rs115348383 0.00917
NM_025132.4(WDR19):c.2096G>A (p.Arg699Gln) rs138529452 0.00883
NM_025132.4(WDR19):c.1581C>A (p.Thr527=) rs114689848 0.00847
NM_025114.4(CEP290):c.3465G>A (p.Leu1155=) rs150138016 0.00815
NM_025114.4(CEP290):c.5199A>G (p.Gln1733=) rs79644671 0.00740
NM_025114.4(CEP290):c.1624-5T>C rs142742071 0.00704
NM_014956.5(CEP164):c.1480C>A (p.Pro494Thr) rs114396665 0.00703
NM_025114.4(CEP290):c.2827A>G (p.Ile943Val) rs75220808 0.00678
NM_015102.5(NPHP4):c.1542G>A (p.Pro514=) rs35264155 0.00677
NM_015102.5(NPHP4):c.1442-7C>T rs146078470 0.00599
NM_025114.4(CEP290):c.1558T>C (p.Phe520Leu) rs147371999 0.00585
NM_025114.4(CEP290):c.5237G>A (p.Arg1746Gln) rs61941020 0.00577
NM_015102.5(NPHP4):c.3674C>T (p.Thr1225Met) rs144624477 0.00576
NM_025114.4(CEP290):c.6401T>C (p.Ile2134Thr) rs117852025 0.00488
NM_015102.5(NPHP4):c.3894C>T (p.Ala1298=) rs60094861 0.00477
NM_025114.4(CEP290):c.5506A>G (p.Ile1836Val) rs11104729 0.00463
NM_014956.5(CEP164):c.3932C>G (p.Thr1311Ser) rs61743854 0.00444
NM_015102.5(NPHP4):c.1705C>G (p.Gln569Glu) rs113413307 0.00443
NM_014956.5(CEP164):c.2655C>T (p.Thr885=) rs61737637 0.00422
NM_015102.5(NPHP4):c.2293G>A (p.Val765Ile) rs149244006 0.00420
NM_015102.5(NPHP4):c.2681A>G (p.His894Arg) rs113097479 0.00418
NM_015102.5(NPHP4):c.279+11G>A rs113902159 0.00401
NM_025114.4(CEP290):c.1522+6C>T rs148446546 0.00371
NM_015102.5(NPHP4):c.1503+10G>A rs41307782 0.00367
NM_006642.5(SDCCAG8):c.986C>T (p.Thr329Met) rs35859404 0.00342
NM_015102.5(NPHP4):c.4237G>A (p.Asp1413Asn) rs115910810 0.00328
NM_014956.5(CEP164):c.1639G>A (p.Glu547Lys) rs116343381 0.00313
NM_014956.5(CEP164):c.3773C>T (p.Ser1258Phe) rs148424362 0.00302
NM_015102.5(NPHP4):c.3036C>T (p.Pro1012=) rs34265978 0.00283
NM_025132.4(WDR19):c.2792A>C (p.Tyr931Ser) rs187546086 0.00275
NM_025132.4(WDR19):c.3183+9G>A rs138318063 0.00248
NM_025132.4(WDR19):c.2142+12G>A rs149621476 0.00246
NM_025132.4(WDR19):c.1915A>G (p.Ser639Gly) rs150649460 0.00222
NM_014956.5(CEP164):c.3225C>T (p.Thr1075=) rs144421639 0.00210
NM_014956.5(CEP164):c.2772C>G (p.Leu924=) rs117473319 0.00201
NM_006642.5(SDCCAG8):c.1761G>A (p.Leu587=) rs149837444 0.00190
NM_015102.5(NPHP4):c.2868C>T (p.Ala956=) rs138025088 0.00188
NM_025132.4(WDR19):c.2361C>T (p.Phe787=) rs200133722 0.00165
NM_006642.5(SDCCAG8):c.929+18C>T rs200895248 0.00164
NM_006642.5(SDCCAG8):c.279G>A (p.Pro93=) rs145877279 0.00120
NM_014956.5(CEP164):c.3556C>T (p.Leu1186=) rs138861857 0.00108
NM_025132.4(WDR19):c.2715G>A (p.Lys905=) rs200339331 0.00099
NM_014956.5(CEP164):c.1484C>G (p.Pro495Arg) rs59763167 0.00096
NM_025132.4(WDR19):c.1135-18C>G rs187658795 0.00095
NM_025132.4(WDR19):c.1198C>T (p.Leu400=) rs199765304 0.00079
NM_025132.4(WDR19):c.2364-3del rs757992911 0.00079
NM_025132.4(WDR19):c.3261+12G>A rs137960733 0.00076
NM_015102.5(NPHP4):c.2257G>A (p.Asp753Asn) rs148424288 0.00074
NM_014956.5(CEP164):c.194+20G>A rs184566454 0.00070
NM_006642.5(SDCCAG8):c.267T>C (p.Ser89=) rs148818431 0.00069
NM_025132.4(WDR19):c.3416A>G (p.Gln1139Arg) rs75621037 0.00065
NM_014956.5(CEP164):c.2362-15C>T rs201819583 0.00061
NM_014956.5(CEP164):c.1135A>G (p.Ser379Gly) rs200122409 0.00058
NM_025114.4(CEP290):c.7186G>T (p.Asp2396Tyr) rs189556433 0.00058
NM_014956.5(CEP164):c.1410-2A>G rs200074826 0.00054
NM_006642.5(SDCCAG8):c.348C>T (p.His116=) rs143226730 0.00051
NM_015102.5(NPHP4):c.1966G>A (p.Asp656Asn) rs191602135 0.00050
NM_014956.5(CEP164):c.1409+10G>A rs199783386 0.00041
NM_014956.5(CEP164):c.748G>A (p.Gly250Ser) rs146501105 0.00041
NM_006642.5(SDCCAG8):c.2067G>A (p.Leu689=) rs191821211 0.00038
NM_006642.5(SDCCAG8):c.798T>C (p.His266=) rs74586093 0.00036
NM_014956.5(CEP164):c.726C>T (p.His242=) rs549905287 0.00036
NM_025132.4(WDR19):c.3249T>C (p.Asp1083=) rs371128500 0.00034
NM_025132.4(WDR19):c.2364-15_2364-14del rs555557314 0.00033
NM_025132.4(WDR19):c.1039C>T (p.Leu347=) rs201958863 0.00027
NM_025132.4(WDR19):c.1595T>C (p.Ile532Thr) rs749672769 0.00019
NM_014956.5(CEP164):c.687+15C>T rs200387177 0.00018
NM_014956.5(CEP164):c.2920A>G (p.Thr974Ala) rs56699807 0.00017
NM_014956.5(CEP164):c.828C>T (p.Ala276=) rs201125321 0.00013
NM_025132.4(WDR19):c.1249+9A>G rs201377206 0.00011
NM_025132.4(WDR19):c.3027C>T (p.Asp1009=) rs181975379 0.00011
NM_014956.5(CEP164):c.3484C>A (p.Arg1162Ser) rs138487235 0.00010
NM_014956.5(CEP164):c.3364C>T (p.Arg1122Cys) rs149875085 0.00008
NM_014956.5(CEP164):c.4053G>A (p.Thr1351=) rs373842310 0.00007
NM_025132.4(WDR19):c.3261+20C>T rs547317070 0.00007
NM_014956.5(CEP164):c.1399C>T (p.Leu467=) rs528252533 0.00006
NM_015102.5(NPHP4):c.1490C>G (p.Pro497Arg) rs375051705 0.00006
NM_025132.4(WDR19):c.3722C>T (p.Pro1241Leu) rs576113399 0.00003
NM_001023570.4(IQCB1):c.1393T>C (p.Tyr465His) rs147708058 0.00002
NM_014956.5(CEP164):c.3147G>A (p.Glu1049=) rs575735586 0.00001
NM_001023570.4(IQCB1):c.*197G>C rs1135750
NM_001023570.4(IQCB1):c.-147_-142del rs72421117
NM_001023570.4(IQCB1):c.1410+74AT[4] rs1553709033
NM_001023570.4(IQCB1):c.1410+81GT[17] rs57816005
NM_006642.5(SDCCAG8):c.1094G>C (p.Arg365Thr) rs115098969
NM_006642.5(SDCCAG8):c.1357-13dup
NM_006642.5(SDCCAG8):c.2113-5del
NM_006642.5(SDCCAG8):c.307-8dup
NM_014956.5(CEP164):c.2466T>C (p.Ser822=) rs563608251
NM_014956.5(CEP164):c.3216+20_3216+33del rs200103555
NM_014956.5(CEP164):c.347del (p.Lys116fs) rs751277203
NM_014956.5(CEP164):c.347dup (p.Glu117fs)
NM_014956.5(CEP164):c.3749-8del rs2047095365
NM_014956.5(CEP164):c.3931A>C (p.Thr1311Pro) rs756182128
NM_014956.5(CEP164):c.3937A>C (p.Thr1313Pro) rs758240656
NM_014956.5(CEP164):c.395C>G (p.Ala132Gly) rs61746874
NM_014956.5(CEP164):c.3999A>G (p.Gln1333=) rs201718007
NM_014956.5(CEP164):c.4096+19G>A
NM_014956.5(CEP164):c.688-7T>C rs539939395
NM_025114.4(CEP290):c.2268A>G (p.Ser756=) rs2468255
NM_025114.4(CEP290):c.3574-9del rs10717563
NM_025114.4(CEP290):c.6522+5dup rs11405846
NM_025132.4(WDR19):c.165-6dup
NM_025132.4(WDR19):c.2364-4del rs750106753
NM_025132.4(WDR19):c.2364-4dup rs750106753
NM_025132.4(WDR19):c.2364-5_2364-4del
NM_025132.4(WDR19):c.2730-5del rs756429071
NM_025132.4(WDR19):c.2730-5dup
NM_025132.4(WDR19):c.3566-10del

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