ClinVar Miner

List of variants in gene CLN6 reported as likely benign for Neuronal ceroid lipofuscinosis

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 316
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HGVS dbSNP gnomAD frequency
NM_017882.3(CLN6):c.*646C>G rs144976448 0.00573
NM_017882.3(CLN6):c.*393G>A rs114833125 0.00546
NM_017882.3(CLN6):c.769A>G (p.Ser257Gly) rs151295143 0.00475
NM_017882.3(CLN6):c.*75G>C rs57058289 0.00367
NM_017882.3(CLN6):c.*934G>T rs114551417 0.00341
NM_017882.3(CLN6):c.*655C>T rs571329883 0.00316
NM_017882.3(CLN6):c.487-15C>T rs200775021 0.00049
NM_017882.3(CLN6):c.5A>G (p.Glu2Gly) rs3743088 0.00042
NM_017882.3(CLN6):c.822G>A (p.Ala274=) rs151186473 0.00041
NM_017882.3(CLN6):c.42C>A (p.Gly14=) rs373776911 0.00036
NM_017882.3(CLN6):c.282C>A (p.Pro94=) rs139261571 0.00021
NM_017882.3(CLN6):c.741C>T (p.His247=) rs140653271 0.00020
NM_017882.3(CLN6):c.477G>A (p.Pro159=) rs370811678 0.00013
NM_017882.3(CLN6):c.585C>T (p.Gly195=) rs144507672 0.00011
NM_017882.3(CLN6):c.298-15C>T rs368661456 0.00009
NM_017882.3(CLN6):c.798C>T (p.Phe266=) rs140319056 0.00008
NM_017882.3(CLN6):c.199-5C>T rs371705916 0.00006
NM_017882.3(CLN6):c.213C>T (p.Leu71=) rs146980624 0.00006
NM_017882.3(CLN6):c.597C>G (p.Ala199=) rs368546281 0.00006
NM_017882.3(CLN6):c.637C>T (p.Leu213=) rs750548623 0.00006
NM_017882.3(CLN6):c.15G>A (p.Arg5=) rs1008565735 0.00005
NM_017882.3(CLN6):c.204A>G (p.Val68=) rs774960579 0.00005
NM_017882.3(CLN6):c.279G>A (p.Thr93=) rs746613593 0.00005
NM_017882.3(CLN6):c.678C>T (p.Thr226=) rs374744816 0.00005
NM_017882.3(CLN6):c.72C>T (p.Phe24=) rs767394326 0.00005
NM_017882.3(CLN6):c.487-13G>A rs747926816 0.00004
NM_017882.3(CLN6):c.487-20C>T rs772189210 0.00004
NM_017882.3(CLN6):c.564C>A (p.Ile188=) rs371326037 0.00004
NM_017882.3(CLN6):c.755G>A (p.Arg252His) rs374681194 0.00004
NM_017882.3(CLN6):c.120G>A (p.Thr40=) rs1034192926 0.00003
NM_017882.3(CLN6):c.157C>T (p.Leu53=) rs1172062931 0.00003
NM_017882.3(CLN6):c.36G>A (p.Ala12=) rs1048000119 0.00003
NM_017882.3(CLN6):c.534C>T (p.His178=) rs763901402 0.00003
NM_017882.3(CLN6):c.831C>T (p.Val277=) rs753344266 0.00003
NM_017882.3(CLN6):c.870C>T (p.Tyr290=) rs774291260 0.00003
NM_017882.3(CLN6):c.924C>T (p.Ser308=) rs774237925 0.00003
NM_017882.3(CLN6):c.423C>T (p.Gly141=) rs1484448524 0.00002
NM_017882.3(CLN6):c.489C>T (p.Ile163=) rs748682605 0.00002
NM_017882.3(CLN6):c.582C>T (p.Ser194=) rs769007090 0.00002
NM_017882.3(CLN6):c.84-8C>T rs756782429 0.00002
NM_017882.3(CLN6):c.84-9C>T rs778471506 0.00002
NM_017882.3(CLN6):c.894G>A (p.Glu298=) rs780421624 0.00002
NM_017882.3(CLN6):c.912C>T (p.Thr304=) rs201330867 0.00002
NM_017882.3(CLN6):c.99C>T (p.Ser33=) rs752449801 0.00002
NM_017882.3(CLN6):c.114C>G (p.Ala38=) rs1219136331 0.00001
NM_017882.3(CLN6):c.159G>A (p.Leu53=) rs377148534 0.00001
NM_017882.3(CLN6):c.16A>C (p.Arg6=) rs1468764503 0.00001
NM_017882.3(CLN6):c.180T>C (p.Phe60=) rs1183583039 0.00001
NM_017882.3(CLN6):c.199-18C>A rs764354435 0.00001
NM_017882.3(CLN6):c.199-4G>A rs767945732 0.00001
NM_017882.3(CLN6):c.228C>T (p.Leu76=) rs1306692606 0.00001
NM_017882.3(CLN6):c.240T>C (p.Ser80=) rs1395492951 0.00001
NM_017882.3(CLN6):c.318C>T (p.Arg106=) rs2093206613 0.00001
NM_017882.3(CLN6):c.345G>A (p.Val115=) rs2093206410 0.00001
NM_017882.3(CLN6):c.348C>T (p.Ser116=) rs1231500700 0.00001
NM_017882.3(CLN6):c.396T>C (p.Ser132=) rs949403836 0.00001
NM_017882.3(CLN6):c.409C>T (p.Leu137=) rs982789458 0.00001
NM_017882.3(CLN6):c.487-14C>T rs371794062 0.00001
NM_017882.3(CLN6):c.516T>C (p.Tyr172=) rs547002745 0.00001
NM_017882.3(CLN6):c.51C>G (p.Gly17=) rs944411833 0.00001
NM_017882.3(CLN6):c.522G>A (p.Glu174=) rs753538013 0.00001
NM_017882.3(CLN6):c.543-10C>T rs767297743 0.00001
NM_017882.3(CLN6):c.543-9C>T rs374653673 0.00001
NM_017882.3(CLN6):c.549C>T (p.Ile183=) rs1384262878 0.00001
NM_017882.3(CLN6):c.558C>T (p.Phe186=) rs1305810285 0.00001
NM_017882.3(CLN6):c.58C>T (p.Leu20=) rs886042533 0.00001
NM_017882.3(CLN6):c.60G>A (p.Leu20=) rs1287378775 0.00001
NM_017882.3(CLN6):c.63C>T (p.Gly21=) rs796052348 0.00001
NM_017882.3(CLN6):c.663C>T (p.Tyr221=) rs104894486 0.00001
NM_017882.3(CLN6):c.666-14C>T rs764363598 0.00001
NM_017882.3(CLN6):c.666-5T>A rs1401270931 0.00001
NM_017882.3(CLN6):c.714C>T (p.Phe238=) rs772090270 0.00001
NM_017882.3(CLN6):c.732C>T (p.Leu244=) rs540227628 0.00001
NM_017882.3(CLN6):c.750C>T (p.Arg250=) rs537994561 0.00001
NM_017882.3(CLN6):c.763C>T (p.Leu255=) rs1195840845 0.00001
NM_017882.3(CLN6):c.801A>G (p.Ala267=) rs901756486 0.00001
NM_017882.3(CLN6):c.810C>G (p.Leu270=) rs183399390 0.00001
NM_017882.3(CLN6):c.83+10C>T rs1247368646 0.00001
NM_017882.3(CLN6):c.83+13C>T rs938706029 0.00001
NM_017882.3(CLN6):c.885C>T (p.Tyr295=) rs374990526 0.00001
NM_017882.3(CLN6):c.90C>T (p.Gly30=) rs1254460869 0.00001
NM_017882.3(CLN6):c.918C>T (p.His306=) rs1347398610 0.00001
NM_017882.3(CLN6):c.93T>C (p.Ser31=) rs376510900 0.00001
NM_017882.3(CLN6):c.105T>C (p.Asp35=)
NM_017882.3(CLN6):c.114C>T (p.Ala38=) rs1219136331
NM_017882.3(CLN6):c.117C>A (p.Arg39=)
NM_017882.3(CLN6):c.123T>A (p.Ala41=) rs2141145111
NM_017882.3(CLN6):c.12G>A (p.Thr4=)
NM_017882.3(CLN6):c.132C>T (p.His44=)
NM_017882.3(CLN6):c.135C>A (p.Leu45=)
NM_017882.3(CLN6):c.135C>T (p.Leu45=) rs374577694
NM_017882.3(CLN6):c.138C>T (p.Asp46=) rs1595821372
NM_017882.3(CLN6):c.13C>A (p.Arg5=) rs886285802
NM_017882.3(CLN6):c.141C>T (p.Leu47=)
NM_017882.3(CLN6):c.195C>A (p.Ala65=)
NM_017882.3(CLN6):c.195C>T (p.Ala65=) rs1472031434
NM_017882.3(CLN6):c.198+11A>C
NM_017882.3(CLN6):c.198+12A>G
NM_017882.3(CLN6):c.198+17G>A
NM_017882.3(CLN6):c.198+19A>C
NM_017882.3(CLN6):c.198+20C>T
NM_017882.3(CLN6):c.199-12T>C
NM_017882.3(CLN6):c.199-13A>G
NM_017882.3(CLN6):c.199-14C>A
NM_017882.3(CLN6):c.199-14C>T
NM_017882.3(CLN6):c.199-14del
NM_017882.3(CLN6):c.199-16T>A
NM_017882.3(CLN6):c.199-19dup rs1567096664
NM_017882.3(CLN6):c.199-6C>G
NM_017882.3(CLN6):c.199-6C>T
NM_017882.3(CLN6):c.199-7T>C
NM_017882.3(CLN6):c.204A>T (p.Val68=)
NM_017882.3(CLN6):c.207C>T (p.Phe69=) rs2093214789
NM_017882.3(CLN6):c.213C>G (p.Leu71=) rs146980624
NM_017882.3(CLN6):c.216G>A (p.Glu72=)
NM_017882.3(CLN6):c.21G>A (p.Arg7=) rs2093262736
NM_017882.3(CLN6):c.225A>C (p.Pro75=)
NM_017882.3(CLN6):c.225A>G (p.Pro75=) rs544291935
NM_017882.3(CLN6):c.24G>A (p.Gln8=)
NM_017882.3(CLN6):c.252C>T (p.Tyr84=) rs2141141480
NM_017882.3(CLN6):c.255C>T (p.Phe85=)
NM_017882.3(CLN6):c.27C>T (p.His9=) rs2141156267
NM_017882.3(CLN6):c.288C>G (p.Leu96=) rs2141141422
NM_017882.3(CLN6):c.288C>T (p.Leu96=)
NM_017882.3(CLN6):c.28C>T (p.Leu10=) rs1457277891
NM_017882.3(CLN6):c.291G>A (p.Leu97=)
NM_017882.3(CLN6):c.294C>G (p.Leu98=) rs2141141419
NM_017882.3(CLN6):c.297+17C>T
NM_017882.3(CLN6):c.297+18C>G
NM_017882.3(CLN6):c.297+9C>T rs1258135795
NM_017882.3(CLN6):c.298-13C>T
NM_017882.3(CLN6):c.298-14A>T
NM_017882.3(CLN6):c.298-16C>A
NM_017882.3(CLN6):c.298-17C>G
NM_017882.3(CLN6):c.298-20A>C
NM_017882.3(CLN6):c.298-8A>T rs2141139490
NM_017882.3(CLN6):c.300C>T (p.Leu100=)
NM_017882.3(CLN6):c.303C>T (p.Ile101=) rs1369226101
NM_017882.3(CLN6):c.309G>A (p.Arg103=)
NM_017882.3(CLN6):c.309G>T (p.Arg103=) rs2141139457
NM_017882.3(CLN6):c.321C>T (p.Thr107=) rs755184214
NM_017882.3(CLN6):c.324G>T (p.Leu108=) rs2093206574
NM_017882.3(CLN6):c.330C>T (p.Arg110=)
NM_017882.3(CLN6):c.333C>T (p.Ser111=) rs995775001
NM_017882.3(CLN6):c.33A>G (p.Gly11=) rs2141156259
NM_017882.3(CLN6):c.342C>T (p.Tyr114=) rs765719755
NM_017882.3(CLN6):c.351C>T (p.Ile117=)
NM_017882.3(CLN6):c.354C>T (p.Ile118=) rs1555438691
NM_017882.3(CLN6):c.363C>T (p.Ile121=)
NM_017882.3(CLN6):c.375C>T (p.Ser125=) rs2093206218
NM_017882.3(CLN6):c.384G>A (p.Leu128=)
NM_017882.3(CLN6):c.396T>G (p.Ser132=) rs949403836
NM_017882.3(CLN6):c.39G>C (p.Thr13=)
NM_017882.3(CLN6):c.405C>T (p.His135=)
NM_017882.3(CLN6):c.411G>A (p.Leu137=) rs748062705
NM_017882.3(CLN6):c.414C>G (p.Leu138=)
NM_017882.3(CLN6):c.414C>T (p.Leu138=) rs2093206040
NM_017882.3(CLN6):c.426C>T (p.Tyr142=) rs768766915
NM_017882.3(CLN6):c.429G>A (p.Gln143=)
NM_017882.3(CLN6):c.441T>G (p.Ser147=) rs1595818241
NM_017882.3(CLN6):c.444C>G (p.Val148=) rs2141139200
NM_017882.3(CLN6):c.444C>T (p.Val148=)
NM_017882.3(CLN6):c.456C>A (p.Pro152=) rs2141139176
NM_017882.3(CLN6):c.45C>T (p.Gly15=)
NM_017882.3(CLN6):c.462C>T (p.Ile154=) rs2141139170
NM_017882.3(CLN6):c.465G>A (p.Lys155=)
NM_017882.3(CLN6):c.471C>G (p.Leu157=)
NM_017882.3(CLN6):c.483G>A (p.Thr161=) rs2141139146
NM_017882.3(CLN6):c.483G>T (p.Thr161=) rs2141139146
NM_017882.3(CLN6):c.486+11C>A
NM_017882.3(CLN6):c.486+11C>T
NM_017882.3(CLN6):c.486+12T>G
NM_017882.3(CLN6):c.486+13C>T
NM_017882.3(CLN6):c.486+15dup
NM_017882.3(CLN6):c.486+16G>A
NM_017882.3(CLN6):c.486+16dup
NM_017882.3(CLN6):c.486+17C>A
NM_017882.3(CLN6):c.486+19C>G
NM_017882.3(CLN6):c.486+7C>G rs1481891129
NM_017882.3(CLN6):c.486+8C>A rs149692285
NM_017882.3(CLN6):c.487-10C>G
NM_017882.3(CLN6):c.487-10C>T rs778284215
NM_017882.3(CLN6):c.487-19C>T rs2141138841
NM_017882.3(CLN6):c.487-5C>A
NM_017882.3(CLN6):c.487-7C>A
NM_017882.3(CLN6):c.487-7C>T rs2141138813
NM_017882.3(CLN6):c.487-9C>G
NM_017882.3(CLN6):c.48A>C (p.Pro16=)
NM_017882.3(CLN6):c.495C>T (p.Ser165=)
NM_017882.3(CLN6):c.501G>A (p.Glu167=)
NM_017882.3(CLN6):c.502C>T (p.Leu168=) rs2141138776
NM_017882.3(CLN6):c.504G>A (p.Leu168=)
NM_017882.3(CLN6):c.507C>T (p.Leu169=) rs1273285939
NM_017882.3(CLN6):c.519T>C (p.Asp173=) rs756942559
NM_017882.3(CLN6):c.525C>T (p.Tyr175=)
NM_017882.3(CLN6):c.526C>T (p.Leu176=) rs2141138733
NM_017882.3(CLN6):c.528G>A (p.Leu176=) rs2141138731
NM_017882.3(CLN6):c.528G>C (p.Leu176=) rs2141138731
NM_017882.3(CLN6):c.542+11G>A
NM_017882.3(CLN6):c.542+12G>T
NM_017882.3(CLN6):c.542+13C>G
NM_017882.3(CLN6):c.542+13C>T
NM_017882.3(CLN6):c.542+14C>T
NM_017882.3(CLN6):c.542+15del
NM_017882.3(CLN6):c.542+16A>T
NM_017882.3(CLN6):c.542+20G>A
NM_017882.3(CLN6):c.543-13C>G
NM_017882.3(CLN6):c.543-17T>C
NM_017882.3(CLN6):c.543-19A>G
NM_017882.3(CLN6):c.543-8T>C
NM_017882.3(CLN6):c.546C>T (p.Tyr182=) rs751550252
NM_017882.3(CLN6):c.54G>A (p.Ala18=) rs1199248099
NM_017882.3(CLN6):c.552C>T (p.Pro184=) rs1595817219
NM_017882.3(CLN6):c.555C>T (p.Phe185=) rs1595817218
NM_017882.3(CLN6):c.564C>T (p.Ile188=) rs371326037
NM_017882.3(CLN6):c.567C>T (p.Leu189=) rs762214934
NM_017882.3(CLN6):c.588C>T (p.Cys196=) rs770515770
NM_017882.3(CLN6):c.597C>A (p.Ala199=)
NM_017882.3(CLN6):c.606T>C (p.Ala202=)
NM_017882.3(CLN6):c.609G>A (p.Glu203=) rs1026588122
NM_017882.3(CLN6):c.60G>C (p.Leu20=)
NM_017882.3(CLN6):c.613T>C (p.Leu205=)
NM_017882.3(CLN6):c.624G>A (p.Gly208=)
NM_017882.3(CLN6):c.631C>T (p.Leu211=)
NM_017882.3(CLN6):c.633G>T (p.Leu211=)
NM_017882.3(CLN6):c.636C>T (p.Leu212=) rs758612277
NM_017882.3(CLN6):c.642G>A (p.Val214=)
NM_017882.3(CLN6):c.64G>T (p.Ala22Ser) rs527373013
NM_017882.3(CLN6):c.655C>T (p.Leu219=)
NM_017882.3(CLN6):c.657G>A (p.Leu219=) rs1363322956
NM_017882.3(CLN6):c.665+10C>T rs1254894871
NM_017882.3(CLN6):c.665+11A>T
NM_017882.3(CLN6):c.665+12T>A
NM_017882.3(CLN6):c.665+14A>T
NM_017882.3(CLN6):c.665+18T>C
NM_017882.3(CLN6):c.665+18T>G
NM_017882.3(CLN6):c.665+19G>A
NM_017882.3(CLN6):c.665+7G>A
NM_017882.3(CLN6):c.666-12T>C
NM_017882.3(CLN6):c.666-15C>T
NM_017882.3(CLN6):c.666-16C>T rs2141136181
NM_017882.3(CLN6):c.666-19_666-16del
NM_017882.3(CLN6):c.666-4C>T rs2141136177
NM_017882.3(CLN6):c.666-5T>C
NM_017882.3(CLN6):c.666-5T>G
NM_017882.3(CLN6):c.666-9C>T
NM_017882.3(CLN6):c.669C>T (p.Tyr223=)
NM_017882.3(CLN6):c.66C>T (p.Ala22=) rs796052349
NM_017882.3(CLN6):c.670C>T (p.Leu224=)
NM_017882.3(CLN6):c.672G>T (p.Leu224=)
NM_017882.3(CLN6):c.675C>A (p.Val225=)
NM_017882.3(CLN6):c.675C>T (p.Val225=)
NM_017882.3(CLN6):c.678C>G (p.Thr226=) rs374744816
NM_017882.3(CLN6):c.681G>A (p.Glu227=) rs1486759204
NM_017882.3(CLN6):c.684C>A (p.Gly228=) rs1209133488
NM_017882.3(CLN6):c.690C>A (p.Ile230=)
NM_017882.3(CLN6):c.69C>T (p.Ser23=)
NM_017882.3(CLN6):c.711C>T (p.Thr237=) rs2141136113
NM_017882.3(CLN6):c.717C>T (p.Phe239=) rs745850620
NM_017882.3(CLN6):c.720C>T (p.Ala240=)
NM_017882.3(CLN6):c.724C>T (p.Leu242=) rs2093194081
NM_017882.3(CLN6):c.733G>A (p.Val245Ile) rs377192977
NM_017882.3(CLN6):c.735C>G (p.Val245=)
NM_017882.3(CLN6):c.73C>T (p.Leu25=)
NM_017882.3(CLN6):c.747G>A (p.Lys249=) rs2093194013
NM_017882.3(CLN6):c.753G>A (p.Lys251=)
NM_017882.3(CLN6):c.756C>T (p.Arg252=)
NM_017882.3(CLN6):c.759C>G (p.Leu253=) rs1567094628
NM_017882.3(CLN6):c.759C>T (p.Leu253=) rs1567094628
NM_017882.3(CLN6):c.75G>A (p.Leu25=)
NM_017882.3(CLN6):c.75G>T (p.Leu25=) rs2093262478
NM_017882.3(CLN6):c.765G>A (p.Leu255=)
NM_017882.3(CLN6):c.774C>T (p.Asn258=) rs1555438231
NM_017882.3(CLN6):c.777C>T (p.Gly259=)
NM_017882.3(CLN6):c.783C>T (p.Phe261=)
NM_017882.3(CLN6):c.786C>T (p.Leu262=)
NM_017882.3(CLN6):c.789C>T (p.Phe263=)
NM_017882.3(CLN6):c.795C>T (p.Ser265=)
NM_017882.3(CLN6):c.802C>T (p.Leu268=)
NM_017882.3(CLN6):c.804G>A (p.Leu268=) rs2141135982
NM_017882.3(CLN6):c.804G>T (p.Leu268=) rs2141135982
NM_017882.3(CLN6):c.813G>A (p.Leu271=)
NM_017882.3(CLN6):c.81C>T (p.Ala27=)
NM_017882.3(CLN6):c.822G>C (p.Ala274=)
NM_017882.3(CLN6):c.822G>T (p.Ala274=)
NM_017882.3(CLN6):c.825C>G (p.Leu275=)
NM_017882.3(CLN6):c.83+11G>A rs2093262385
NM_017882.3(CLN6):c.83+13C>G
NM_017882.3(CLN6):c.83+14G>A
NM_017882.3(CLN6):c.83+7G>A rs1595826955
NM_017882.3(CLN6):c.83+9G>A rs2141156141
NM_017882.3(CLN6):c.83+9G>C
NM_017882.3(CLN6):c.831C>A (p.Val277=)
NM_017882.3(CLN6):c.834C>T (p.Ala278=)
NM_017882.3(CLN6):c.84-12G>C
NM_017882.3(CLN6):c.84-16T>A
NM_017882.3(CLN6):c.84-17G>A
NM_017882.3(CLN6):c.84-17G>T
NM_017882.3(CLN6):c.84-17_84-15del
NM_017882.3(CLN6):c.84-18C>A
NM_017882.3(CLN6):c.84-3del rs2141145190
NM_017882.3(CLN6):c.84-4C>G
NM_017882.3(CLN6):c.84-4C>T
NM_017882.3(CLN6):c.840G>C (p.Leu280=)
NM_017882.3(CLN6):c.852T>A (p.Pro284=)
NM_017882.3(CLN6):c.852T>C (p.Pro284=) rs2141135937
NM_017882.3(CLN6):c.858C>G (p.Leu286=)
NM_017882.3(CLN6):c.858C>T (p.Leu286=) rs1043430340
NM_017882.3(CLN6):c.873G>A (p.Pro291=) rs567275786
NM_017882.3(CLN6):c.876T>C (p.Gly292=) rs916275768
NM_017882.3(CLN6):c.879C>T (p.Val293=)
NM_017882.3(CLN6):c.888C>T (p.Val296=)
NM_017882.3(CLN6):c.90C>G (p.Gly30=)
NM_017882.3(CLN6):c.912C>G (p.Thr304=)
NM_017882.3(CLN6):c.9G>A (p.Ala3=)
NM_017882.3(CLN6):c.9G>C (p.Ala3=)

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