ClinVar Miner

List of variants in gene CLN6 studied for adolescent-onset epilepsy syndrome

Included ClinVar conditions (88):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 234
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HGVS dbSNP
NC_000015.10:g.(?_68208120)_(68229604_?)del
NC_000015.10:g.(?_68229482)_(68229604_?)del
NC_000015.10:g.(?_68229492)_(68229594_?)del
NC_000015.9:g.68504037_68504039delGAT rs121908080
NM_017882.2(CLN6):c.316dupC (p.Arg106Profs) rs397515352
NM_017882.2(CLN6):c.[460_462delATC];[829_837delGTCGCCTGG]
NM_017882.3(CLN6):c.*1015T>C rs6494720
NM_017882.3(CLN6):c.*1023G>A
NM_017882.3(CLN6):c.*1103G>A rs147362516
NM_017882.3(CLN6):c.*1109G>A
NM_017882.3(CLN6):c.*131G>T rs556392570
NM_017882.3(CLN6):c.*175C>T rs886051444
NM_017882.3(CLN6):c.*179G>C rs886051443
NM_017882.3(CLN6):c.*224T>C rs886051442
NM_017882.3(CLN6):c.*246G>A rs886051441
NM_017882.3(CLN6):c.*264T>C rs886051440
NM_017882.3(CLN6):c.*284C>T
NM_017882.3(CLN6):c.*300C>T rs886051439
NM_017882.3(CLN6):c.*312C>T
NM_017882.3(CLN6):c.*345C>T
NM_017882.3(CLN6):c.*393G>A
NM_017882.3(CLN6):c.*42T>G
NM_017882.3(CLN6):c.*446C>T
NM_017882.3(CLN6):c.*470C>T rs565006193
NM_017882.3(CLN6):c.*481T>G
NM_017882.3(CLN6):c.*526A>G rs886051438
NM_017882.3(CLN6):c.*532T>A rs886051437
NM_017882.3(CLN6):c.*646C>G rs144976448
NM_017882.3(CLN6):c.*655C>T
NM_017882.3(CLN6):c.*667G>A rs111879561
NM_017882.3(CLN6):c.*690A>G rs8033190
NM_017882.3(CLN6):c.*69G>T rs761969677
NM_017882.3(CLN6):c.*725C>T rs369225795
NM_017882.3(CLN6):c.*749T>C
NM_017882.3(CLN6):c.*75G>C
NM_017882.3(CLN6):c.*817C>T rs8142
NM_017882.3(CLN6):c.*882C>T
NM_017882.3(CLN6):c.*887G>T rs886051436
NM_017882.3(CLN6):c.*88G>A rs886051446
NM_017882.3(CLN6):c.*934G>T rs114551417
NM_017882.3(CLN6):c.*991C>A
NM_017882.3(CLN6):c.-101A>G
NM_017882.3(CLN6):c.-108G>C rs865972073
NM_017882.3(CLN6):c.-22C>A rs886051448
NM_017882.3(CLN6):c.-38C>T
NM_017882.3(CLN6):c.-92C>T
NM_017882.3(CLN6):c.100G>A (p.Ala34Thr) rs146198681
NM_017882.3(CLN6):c.115C>G (p.Arg39Gly)
NM_017882.3(CLN6):c.115C>T (p.Arg39Cys) rs142260866
NM_017882.3(CLN6):c.116G>A (p.Arg39His) rs779456928
NM_017882.3(CLN6):c.119C>A (p.Thr40Lys)
NM_017882.3(CLN6):c.119C>T (p.Thr40Met) rs769199442
NM_017882.3(CLN6):c.124C>T (p.Pro42Ser)
NM_017882.3(CLN6):c.135C>T (p.Leu45=) rs374577694
NM_017882.3(CLN6):c.139C>T (p.Leu47Phe) rs154774635
NM_017882.3(CLN6):c.13C>A (p.Arg5=) rs886285802
NM_017882.3(CLN6):c.13C>T (p.Arg5Trp) rs886285802
NM_017882.3(CLN6):c.14G>A (p.Arg5Gln)
NM_017882.3(CLN6):c.150C>G (p.Tyr50Ter) rs154774640
NM_017882.3(CLN6):c.161A>G (p.Gln54Arg)
NM_017882.3(CLN6):c.17G>C (p.Arg6Thr) rs154774636
NM_017882.3(CLN6):c.184C>T (p.Arg62Cys) rs1451777867
NM_017882.3(CLN6):c.185G>A (p.Arg62His) rs751486476
NM_017882.3(CLN6):c.195C>T (p.Ala65=) rs1472031434
NM_017882.3(CLN6):c.198+104T>C rs8025947
NM_017882.3(CLN6):c.199-2A>G
NM_017882.3(CLN6):c.199-5C>T rs371705916
NM_017882.3(CLN6):c.1A>G (p.Met1Val) rs1555440206
NM_017882.3(CLN6):c.200T>C (p.Leu67Pro) rs154774633
NM_017882.3(CLN6):c.204A>G (p.Val68=) rs774960579
NM_017882.3(CLN6):c.205T>C (p.Phe69Leu)
NM_017882.3(CLN6):c.213C>G (p.Leu71=) rs146980624
NM_017882.3(CLN6):c.213C>T (p.Leu71=) rs146980624
NM_017882.3(CLN6):c.214G>A (p.Glu72Lys)
NM_017882.3(CLN6):c.214G>C (p.Glu72Gln) rs104894483
NM_017882.3(CLN6):c.214G>T (p.Glu72Ter) rs104894483
NM_017882.3(CLN6):c.224C>T (p.Pro75Leu) rs1595819607
NM_017882.3(CLN6):c.240T>C (p.Ser80=) rs1395492951
NM_017882.3(CLN6):c.250T>A (p.Tyr84Asn) rs1567096598
NM_017882.3(CLN6):c.255C>G (p.Phe85Leu) rs545955828
NM_017882.3(CLN6):c.259A>G (p.Met87Val) rs532180601
NM_017882.3(CLN6):c.268_271dup (p.Val91fs) rs786205067
NM_017882.3(CLN6):c.270C>T (p.Asn90=) rs145247814
NM_017882.3(CLN6):c.271G>A (p.Val91Ile) rs140519790
NM_017882.3(CLN6):c.278C>T (p.Thr93Met) rs150001589
NM_017882.3(CLN6):c.279G>A (p.Thr93=) rs746613593
NM_017882.3(CLN6):c.282C>A (p.Pro94=) rs139261571
NM_017882.3(CLN6):c.285T>A (p.Phe95Leu) rs796052350
NM_017882.3(CLN6):c.297+113G>C rs553192210
NM_017882.3(CLN6):c.297+4C>T rs1030759897
NM_017882.3(CLN6):c.298-15C>T rs368661456
NM_017882.3(CLN6):c.298-6C>T rs117038427
NM_017882.3(CLN6):c.299T>G (p.Leu100Arg) rs1555438702
NM_017882.3(CLN6):c.303C>T (p.Ile101=) rs1369226101
NM_017882.3(CLN6):c.304G>A (p.Glu102Lys) rs796052352
NM_017882.3(CLN6):c.307C>T (p.Arg103Trp) rs201095412
NM_017882.3(CLN6):c.308G>A (p.Arg103Gln) rs154774634
NM_017882.3(CLN6):c.311C>A (p.Ser104Tyr) rs777921628
NM_017882.3(CLN6):c.314C>T (p.Pro105Leu)
NM_017882.3(CLN6):c.316C>T (p.Arg106Cys) rs202226970
NM_017882.3(CLN6):c.328C>T (p.Arg110Cys)
NM_017882.3(CLN6):c.329G>A (p.Arg110His) rs140179213
NM_017882.3(CLN6):c.32G>C (p.Gly11Ala)
NM_017882.3(CLN6):c.331T>C (p.Ser111Pro) rs1217014085
NM_017882.3(CLN6):c.339G>A (p.Thr113=) rs146135801
NM_017882.3(CLN6):c.340T>C (p.Tyr114His)
NM_017882.3(CLN6):c.346A>G (p.Ser116Gly)
NM_017882.3(CLN6):c.349_351ATC[2] (p.Ile119del) rs886051447
NM_017882.3(CLN6):c.34G>A (p.Ala12Thr) rs112239768
NM_017882.3(CLN6):c.355A>G (p.Ile119Val)
NM_017882.3(CLN6):c.365T>C (p.Met122Thr)
NM_017882.3(CLN6):c.368G>A (p.Gly123Asp) rs104894484
NM_017882.3(CLN6):c.371C>T (p.Ala124Val) rs1567095879
NM_017882.3(CLN6):c.373A>G (p.Ser125Gly) rs772893554
NM_017882.3(CLN6):c.393_394CT[1] (p.Ser132fs) rs774543080
NM_017882.3(CLN6):c.396T>C (p.Ser132=) rs949403836
NM_017882.3(CLN6):c.406C>T (p.Arg136Cys) rs1012449574
NM_017882.3(CLN6):c.40G>A (p.Gly14Ser)
NM_017882.3(CLN6):c.41G>A (p.Gly14Asp) rs994590268
NM_017882.3(CLN6):c.42C>A (p.Gly14=) rs373776911
NM_017882.3(CLN6):c.431A>G (p.His144Arg)
NM_017882.3(CLN6):c.43G>T (p.Gly15Cys) rs1057524348
NM_017882.3(CLN6):c.443T>A (p.Val148Asp) rs1555438678
NM_017882.3(CLN6):c.445C>T (p.Arg149Cys) rs747229909
NM_017882.3(CLN6):c.446G>A (p.Arg149His) rs154774638
NM_017882.3(CLN6):c.469C>A (p.Leu157Ile)
NM_017882.3(CLN6):c.476C>T (p.Pro159Leu) rs919850756
NM_017882.3(CLN6):c.477G>A (p.Pro159=) rs370811678
NM_017882.3(CLN6):c.482C>T (p.Thr161Met) rs757734645
NM_017882.3(CLN6):c.486+1G>A rs756522171
NM_017882.3(CLN6):c.486+8C>T rs149692285
NM_017882.3(CLN6):c.487-12T>A rs571940397
NM_017882.3(CLN6):c.487-15C>T rs200775021
NM_017882.3(CLN6):c.487-3C>G
NM_017882.3(CLN6):c.487-8T>C rs202046680
NM_017882.3(CLN6):c.489C>T (p.Ile163=) rs748682605
NM_017882.3(CLN6):c.490G>A (p.Asp164Asn) rs779685727
NM_017882.3(CLN6):c.494C>T (p.Ser165Phe) rs1595818025
NM_017882.3(CLN6):c.497T>C (p.Phe166Ser)
NM_017882.3(CLN6):c.498dup (p.Glu167Ter) rs762902907
NM_017882.3(CLN6):c.49G>A (p.Gly17Ser) rs763944821
NM_017882.3(CLN6):c.506T>C (p.Leu169Pro) rs1344658850
NM_017882.3(CLN6):c.509A>G (p.Tyr170Cys) rs750081097
NM_017882.3(CLN6):c.511_513TAT[1] (p.Tyr172del) rs121908079
NM_017882.3(CLN6):c.53C>T (p.Ala18Val) rs547125345
NM_017882.3(CLN6):c.542+1G>T rs1555438614
NM_017882.3(CLN6):c.542+5G>T rs786205066
NM_017882.3(CLN6):c.542G>A (p.Trp181Ter)
NM_017882.3(CLN6):c.543-9C>T rs374653673
NM_017882.3(CLN6):c.543G>A (p.Trp181Ter) rs1555438443
NM_017882.3(CLN6):c.547A>G (p.Ile183Val)
NM_017882.3(CLN6):c.552dup (p.Phe185fs) rs1567095153
NM_017882.3(CLN6):c.553T>G (p.Phe185Val)
NM_017882.3(CLN6):c.559C>T (p.Leu187Phe) rs764670832
NM_017882.3(CLN6):c.564C>A (p.Ile188=) rs371326037
NM_017882.3(CLN6):c.567C>T (p.Leu189=) rs762214934
NM_017882.3(CLN6):c.571A>G (p.Met191Val) rs1555438435
NM_017882.3(CLN6):c.583G>A (p.Gly195Ser) rs747575187
NM_017882.3(CLN6):c.585C>T (p.Gly195=) rs144507672
NM_017882.3(CLN6):c.587G>T (p.Cys196Phe)
NM_017882.3(CLN6):c.593C>G (p.Thr198Ser)
NM_017882.3(CLN6):c.597C>G (p.Ala199=)
NM_017882.3(CLN6):c.5A>G (p.Glu2Gly) rs3743088
NM_017882.3(CLN6):c.601A>G (p.Lys201Glu) rs587780316
NM_017882.3(CLN6):c.61G>A (p.Gly21Ser) rs916017530
NM_017882.3(CLN6):c.61_62insCGG (p.Gly21_Ala22insAla) rs878855040
NM_017882.3(CLN6):c.634C>T (p.Leu212Phe) rs751562146
NM_017882.3(CLN6):c.649A>G (p.Ser217Gly) rs1567095087
NM_017882.3(CLN6):c.64G>A (p.Ala22Thr) rs527373013
NM_017882.3(CLN6):c.64G>T (p.Ala22Ser) rs527373013
NM_017882.3(CLN6):c.653G>T (p.Gly218Val)
NM_017882.3(CLN6):c.659A>C (p.Tyr220Ser)
NM_017882.3(CLN6):c.662A>C (p.Tyr221Ser) rs764571295
NM_017882.3(CLN6):c.662A>G (p.Tyr221Cys) rs764571295
NM_017882.3(CLN6):c.663C>G (p.Tyr221Ter) rs104894486
NM_017882.3(CLN6):c.665G>A (p.Trp222Ter) rs1555438411
NM_017882.3(CLN6):c.666-3C>T
NM_017882.3(CLN6):c.666-5T>A rs1401270931
NM_017882.3(CLN6):c.66C>T (p.Ala22=) rs796052349
NM_017882.3(CLN6):c.66del (p.Ser23fs)
NM_017882.3(CLN6):c.678C>T (p.Thr226=) rs374744816
NM_017882.3(CLN6):c.679G>A (p.Glu227Lys) rs746753722
NM_017882.3(CLN6):c.702C>A (p.Phe234Leu) rs1555438267
NM_017882.3(CLN6):c.704T>A (p.Ile235Asn)
NM_017882.3(CLN6):c.706T>G (p.Phe236Val) rs796052358
NM_017882.3(CLN6):c.717C>T (p.Phe239=) rs745850620
NM_017882.3(CLN6):c.718G>A (p.Ala240Thr) rs779105796
NM_017882.3(CLN6):c.719C>T (p.Ala240Val)
NM_017882.3(CLN6):c.722T>C (p.Met241Thr) rs1555438255
NM_017882.3(CLN6):c.728C>T (p.Ala243Val) rs767164948
NM_017882.3(CLN6):c.730C>G (p.Leu244Val)
NM_017882.3(CLN6):c.733G>A (p.Val245Ile) rs377192977
NM_017882.3(CLN6):c.741C>T (p.His247=) rs140653271
NM_017882.3(CLN6):c.749G>A (p.Arg250His) rs554594996
NM_017882.3(CLN6):c.754C>T (p.Arg252Cys) rs145746878
NM_017882.3(CLN6):c.755G>A (p.Arg252His) rs374681194
NM_017882.3(CLN6):c.766_770del (p.Asp256fs) rs1555438234
NM_017882.3(CLN6):c.767A>G (p.Asp256Gly) rs143781303
NM_017882.3(CLN6):c.769A>G (p.Ser257Gly) rs151295143
NM_017882.3(CLN6):c.775G>A (p.Gly259Ser)
NM_017882.3(CLN6):c.775G>C (p.Gly259Arg) rs150363441
NM_017882.3(CLN6):c.775G>T (p.Gly259Cys) rs150363441
NM_017882.3(CLN6):c.784_785CT[3] (p.Phe263fs) rs1555438229
NM_017882.3(CLN6):c.791_793CCT[1] (p.Ser265del) rs768422260
NM_017882.3(CLN6):c.798C>T (p.Phe266=) rs140319056
NM_017882.3(CLN6):c.7del (p.Ala3fs) rs786205065
NM_017882.3(CLN6):c.801A>G (p.Ala267=) rs901756486
NM_017882.3(CLN6):c.821C>T (p.Ala274Val) rs202012876
NM_017882.3(CLN6):c.822G>A (p.Ala274=) rs151186473
NM_017882.3(CLN6):c.829_832del (p.Val277fs) rs1595816474
NM_017882.3(CLN6):c.83+11G>A
NM_017882.3(CLN6):c.83+2T>G rs1555440188
NM_017882.3(CLN6):c.831C>T (p.Val277=) rs753344266
NM_017882.3(CLN6):c.832G>A (p.Ala278Thr) rs143728911
NM_017882.3(CLN6):c.837G>A (p.Trp279Ter) rs1555438212
NM_017882.3(CLN6):c.837del (p.Trp279fs) rs1595816465
NM_017882.3(CLN6):c.83G>A (p.Arg28Lys) rs1381427322
NM_017882.3(CLN6):c.84-8C>T rs756782429
NM_017882.3(CLN6):c.840G>A (p.Leu280=) rs148949069
NM_017882.3(CLN6):c.850C>T (p.Pro284Ser) rs369715206
NM_017882.3(CLN6):c.858C>T (p.Leu286=) rs1043430340
NM_017882.3(CLN6):c.885C>T (p.Tyr295=) rs374990526
NM_017882.3(CLN6):c.890del (p.Pro297fs) rs154774639
NM_017882.3(CLN6):c.896C>T (p.Pro299Leu) rs758921701
NM_017882.3(CLN6):c.898T>C (p.Trp300Arg) rs750937323
NM_017882.3(CLN6):c.909C>A (p.Tyr303Ter) rs1448520404
NM_017882.3(CLN6):c.912C>T (p.Thr304=) rs201330867
NM_017882.3(CLN6):c.919G>T (p.Val307Phe)
NM_017882.3(CLN6):c.923G>C (p.Ser308Thr) rs143578698
NM_017882.3(CLN6):c.924C>T (p.Ser308=) rs774237925
NM_017882.3(CLN6):c.925A>G (p.Ser309Gly)
NM_017882.3(CLN6):c.929G>A (p.Arg310Gln) rs769900670
NM_017882.3(CLN6):c.93T>C (p.Ser31=) rs376510900
NM_017882.3(CLN6):c.99C>T (p.Ser33=) rs752449801

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