ClinVar Miner

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

Included ClinVar conditions (80):
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Gene type:
ClinVar version:
Total variants: 107
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HGVS dbSNP
NC_000015.9:g.68504037_68504039delGAT rs121908080
NM_017882.2(CLN6):c.100G>A (p.Ala34Thr) rs146198681
NM_017882.2(CLN6):c.115C>T (p.Arg39Cys)
NM_017882.2(CLN6):c.116G>A (p.Arg39His) rs779456928
NM_017882.2(CLN6):c.135C>T (p.Leu45=) rs374577694
NM_017882.2(CLN6):c.139C>T (p.Leu47Phe) rs154774635
NM_017882.2(CLN6):c.13C>T (p.Arg5Trp) rs886285802
NM_017882.2(CLN6):c.150C>G (p.Tyr50Ter) rs154774640
NM_017882.2(CLN6):c.17G>C (p.Arg6Thr) rs154774636
NM_017882.2(CLN6):c.184C>T (p.Arg62Cys) rs1451777867
NM_017882.2(CLN6):c.195C>T (p.Ala65=) rs1472031434
NM_017882.2(CLN6):c.198+104T>C
NM_017882.2(CLN6):c.1A>G (p.Met1Val) rs1555440206
NM_017882.2(CLN6):c.200T>C (p.Leu67Pro) rs154774633
NM_017882.2(CLN6):c.213C>T (p.Leu71=) rs146980624
NM_017882.2(CLN6):c.214G>C (p.Glu72Gln) rs104894483
NM_017882.2(CLN6):c.214G>T (p.Glu72Ter) rs104894483
NM_017882.2(CLN6):c.250T>A (p.Tyr84Asn)
NM_017882.2(CLN6):c.259A>G (p.Met87Val) rs532180601
NM_017882.2(CLN6):c.271G>A (p.Val91Ile) rs140519790
NM_017882.2(CLN6):c.282C>A (p.Pro94=) rs139261571
NM_017882.2(CLN6):c.285T>A (p.Phe95Leu) rs796052350
NM_017882.2(CLN6):c.297+113G>C rs553192210
NM_017882.2(CLN6):c.298-6C>T rs117038427
NM_017882.2(CLN6):c.299T>G (p.Leu100Arg) rs1555438702
NM_017882.2(CLN6):c.303C>T (p.Ile101=) rs1369226101
NM_017882.2(CLN6):c.304G>A (p.Glu102Lys) rs796052352
NM_017882.2(CLN6):c.307C>T (p.Arg103Trp) rs201095412
NM_017882.2(CLN6):c.308G>A (p.Arg103Gln) rs154774634
NM_017882.2(CLN6):c.316C>T (p.Arg106Cys) rs202226970
NM_017882.2(CLN6):c.316dupC (p.Arg106Profs) rs397515352
NM_017882.2(CLN6):c.329G>A (p.Arg110His) rs140179213
NM_017882.2(CLN6):c.339G>A (p.Thr113=) rs146135801
NM_017882.2(CLN6):c.34G>A (p.Ala12Thr) rs112239768
NM_017882.2(CLN6):c.355_357delATC (p.Ile119del) rs886051447
NM_017882.2(CLN6):c.368G>A (p.Gly123Asp) rs104894484
NM_017882.2(CLN6):c.371C>T (p.Ala124Val)
NM_017882.2(CLN6):c.373A>G (p.Ser125Gly) rs772893554
NM_017882.2(CLN6):c.395_396delCT (p.Ser132Cysfs) rs774543080
NM_017882.2(CLN6):c.396T>C (p.Ser132=) rs949403836
NM_017882.2(CLN6):c.41G>A (p.Gly14Asp)
NM_017882.2(CLN6):c.443T>A (p.Val148Asp) rs1555438678
NM_017882.2(CLN6):c.445C>T (p.Arg149Cys) rs747229909
NM_017882.2(CLN6):c.446G>A (p.Arg149His) rs154774638
NM_017882.2(CLN6):c.476C>T (p.Pro159Leu) rs919850756
NM_017882.2(CLN6):c.482C>T (p.Thr161Met) rs757734645
NM_017882.2(CLN6):c.486+1G>A rs756522171
NM_017882.2(CLN6):c.486+8C>T rs149692285
NM_017882.2(CLN6):c.490G>A (p.Asp164Asn) rs779685727
NM_017882.2(CLN6):c.498dup (p.Glu167Terfs) rs762902907
NM_017882.2(CLN6):c.49G>A (p.Gly17Ser) rs763944821
NM_017882.2(CLN6):c.506T>C (p.Leu169Pro) rs1344658850
NM_017882.2(CLN6):c.509A>G (p.Tyr170Cys) rs750081097
NM_017882.2(CLN6):c.511_513delTAT (p.Tyr172del) rs121908079
NM_017882.2(CLN6):c.522G>A (p.Glu174=) rs753538013
NM_017882.2(CLN6):c.53C>T (p.Ala18Val) rs547125345
NM_017882.2(CLN6):c.542+1G>T rs1555438614
NM_017882.2(CLN6):c.542+5G>T rs786205066
NM_017882.2(CLN6):c.543-9C>T rs374653673
NM_017882.2(CLN6):c.543G>A (p.Trp181Ter) rs1555438443
NM_017882.2(CLN6):c.552dup (p.Phe185Leufs)
NM_017882.2(CLN6):c.564C>A (p.Ile188=) rs371326037
NM_017882.2(CLN6):c.571A>G (p.Met191Val) rs1555438435
NM_017882.2(CLN6):c.585C>T (p.Gly195=) rs144507672
NM_017882.2(CLN6):c.5A>G (p.Glu2Gly) rs3743088
NM_017882.2(CLN6):c.601A>G (p.Lys201Glu) rs587780316
NM_017882.2(CLN6):c.61G>A (p.Gly21Ser)
NM_017882.2(CLN6):c.61_62insCGG (p.Leu20_Gly21insAla) rs878855040
NM_017882.2(CLN6):c.634C>T (p.Leu212Phe)
NM_017882.2(CLN6):c.649A>G (p.Ser217Gly)
NM_017882.2(CLN6):c.64G>T (p.Ala22Ser) rs527373013
NM_017882.2(CLN6):c.662A>C (p.Tyr221Ser)
NM_017882.2(CLN6):c.663C>G (p.Tyr221Ter) rs104894486
NM_017882.2(CLN6):c.665G>A (p.Trp222Ter) rs1555438411
NM_017882.2(CLN6):c.666-5T>A rs1401270931
NM_017882.2(CLN6):c.679G>A (p.Glu227Lys) rs746753722
NM_017882.2(CLN6):c.702C>A (p.Phe234Leu) rs1555438267
NM_017882.2(CLN6):c.706T>G (p.Phe236Val) rs796052358
NM_017882.2(CLN6):c.718G>A (p.Ala240Thr) rs779105796
NM_017882.2(CLN6):c.728C>T (p.Ala243Val) rs767164948
NM_017882.2(CLN6):c.733G>A (p.Val245Ile) rs377192977
NM_017882.2(CLN6):c.749G>A (p.Arg250His) rs554594996
NM_017882.2(CLN6):c.754C>T (p.Arg252Cys) rs145746878
NM_017882.2(CLN6):c.755G>A (p.Arg252His) rs374681194
NM_017882.2(CLN6):c.766_770del5 (p.Asp256Glnfs) rs1555438234
NM_017882.2(CLN6):c.769A>G (p.Ser257Gly) rs151295143
NM_017882.2(CLN6):c.775G>C (p.Gly259Arg) rs150363441
NM_017882.2(CLN6):c.775G>T (p.Gly259Cys) rs150363441
NM_017882.2(CLN6):c.786_787dup (p.Phe263Serfs) rs1555438229
NM_017882.2(CLN6):c.794_796delCCT (p.Ser265del) rs768422260
NM_017882.2(CLN6):c.7del (p.Ala3Argfs) rs786205065
NM_017882.2(CLN6):c.822G>A (p.Ala274=) rs151186473
NM_017882.2(CLN6):c.83+2T>G rs1555440188
NM_017882.2(CLN6):c.832G>A (p.Ala278Thr) rs143728911
NM_017882.2(CLN6):c.837G>A (p.Trp279Ter) rs1555438212
NM_017882.2(CLN6):c.840G>A (p.Leu280=) rs148949069
NM_017882.2(CLN6):c.890delC (p.Pro297Leufs) rs154774639
NM_017882.2(CLN6):c.896C>T (p.Pro299Leu) rs758921701
NM_017882.2(CLN6):c.898T>C (p.Trp300Arg) rs750937323
NM_017882.2(CLN6):c.909C>A (p.Tyr303Ter) rs1448520404
NM_017882.2(CLN6):c.912C>T (p.Thr304=) rs201330867
NM_017882.2(CLN6):c.923G>C (p.Ser308Thr) rs143578698
NM_017882.2(CLN6):c.929G>A (p.Arg310Gln)
NM_017882.2(CLN6):c.[460_462delATC];[829_837delGTCGCCTGG]
NM_017882.3(CLN6):c.185G>A (p.Arg62His) rs751486476
NM_017882.3(CLN6):c.268_271dup (p.Val91Glufs) rs786205067
NM_017882.3(CLN6):c.83G>A (p.Arg28Lys)

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