ClinVar Miner

List of variants in gene CLN5, FBXL3 studied for adolescent-onset epilepsy syndrome

Included ClinVar conditions (80):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 101
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HGVS dbSNP
NC_000013.10:g.(?_77566067)_(77575124_?)del
NM_006493.4(CLN5):c.1019A>C (p.Lys340Thr) rs745767054
NM_006493.4(CLN5):c.1026_1027AT[1] (p.Thr342_Tyr343insTer) rs386833969
NM_006493.4(CLN5):c.1034_1037dup (p.Pro347fs) rs1555274391
NM_006493.4(CLN5):c.1041T>C (p.Pro347=) rs36038805
NM_006493.4(CLN5):c.1045C>T (p.Pro349Ser) rs41287036
NM_006493.4(CLN5):c.1048A>G (p.Ile350Val)
NM_006493.4(CLN5):c.1048_1051dup (p.Arg351fs) rs1555274402
NM_006493.4(CLN5):c.1074A>T (p.Leu358Phe) rs1555274416
NM_006493.4(CLN5):c.176G>A (p.Arg59His)
NM_006493.4(CLN5):c.187C>T (p.Arg63Cys) rs786205211
NM_006493.4(CLN5):c.187del (p.Arg63fs) rs1555273881
NM_006493.4(CLN5):c.188G>A (p.Arg63His) rs104894386
NM_006493.4(CLN5):c.188G>C (p.Arg63Pro) rs104894386
NM_006493.4(CLN5):c.191del (p.Pro64fs) rs1555273882
NM_006493.4(CLN5):c.208T>C (p.Cys70Arg)
NM_006493.4(CLN5):c.224C>T (p.Thr75Ile) rs376336781
NM_006493.4(CLN5):c.230G>A (p.Cys77Tyr) rs267606738
NM_006493.4(CLN5):c.265G>A (p.Asp89Asn) rs138110438
NM_006493.4(CLN5):c.286C>T (p.Arg96Ter) rs386833971
NM_006493.4(CLN5):c.304T>G (p.Trp102Gly)
NM_006493.4(CLN5):c.339+5G>C rs202146713
NM_006493.4(CLN5):c.339+6G>A rs1468101
NM_006493.4(CLN5):c.340-1del rs1057516390
NM_006493.4(CLN5):c.371G>A (p.Ser124Asn) rs369122820
NM_006493.4(CLN5):c.371del (p.Ser124fs) rs794729218
NM_006493.4(CLN5):c.377T>G (p.Leu126Ter) rs386833972
NM_006493.4(CLN5):c.380_381insA (p.Gly128fs) rs386833973
NM_006493.4(CLN5):c.381T>G (p.Thr127=) rs34481987
NM_006493.4(CLN5):c.398T>G (p.Met133Arg) rs1419308949
NM_006493.4(CLN5):c.418C>T (p.Gln140Ter) rs386833974
NM_006493.4(CLN5):c.424G>C (p.Gly142Arg) rs201464545
NM_006493.4(CLN5):c.428A>G (p.Asn143Ser) rs386833975
NM_006493.4(CLN5):c.430T>C (p.Cys144Arg)
NM_006493.4(CLN5):c.431G>A (p.Cys144Tyr) rs1566219136
NM_006493.4(CLN5):c.438del (p.His148fs) rs1555273992
NM_006493.4(CLN5):c.446T>C (p.Leu149Pro) rs386833976
NM_006493.4(CLN5):c.448C>T (p.Arg150Ter) rs546989392
NM_006493.4(CLN5):c.459G>A (p.Met153Ile) rs144656959
NM_006493.4(CLN5):c.466C>T (p.Pro156Ser) rs386833977
NM_006493.4(CLN5):c.473G>C (p.Trp158Ser) rs386833978
NM_006493.4(CLN5):c.486C>T (p.Gly162=)
NM_006493.4(CLN5):c.490G>T (p.Ala164Ser)
NM_006493.4(CLN5):c.500T>C (p.Phe167Ser) rs1393893027
NM_006493.4(CLN5):c.505G>A (p.Gly169Arg) rs1420822940
NM_006493.4(CLN5):c.510_514dup (p.Asp172fs) rs1555274005
NM_006493.4(CLN5):c.522dup (p.Trp175fs) rs386833979
NM_006493.4(CLN5):c.524G>A (p.Trp175Ter) rs386833980
NM_006493.4(CLN5):c.525del (p.His174_Trp175insTer) rs587780315
NM_006493.4(CLN5):c.526A>G (p.Lys176Glu) rs142870036
NM_006493.4(CLN5):c.547C>T (p.Gln183Ter) rs869312751
NM_006493.4(CLN5):c.550G>A (p.Val184Ile) rs1566219289
NM_006493.4(CLN5):c.553_561del (p.Ala185_Ile187del) rs1555274012
NM_006493.4(CLN5):c.565+1G>A rs1555274014
NM_006493.4(CLN5):c.565+2dup rs1476787722
NM_006493.4(CLN5):c.565+3_565+4dup rs745312608
NM_006493.4(CLN5):c.566-42_*46del rs1555274312
NM_006493.4(CLN5):c.566_*1548del (p.Gly189fs)
NM_006493.4(CLN5):c.569A>G (p.Asn190Ser) rs369100769
NM_006493.4(CLN5):c.574T>G (p.Phe192Val) rs1555274325
NM_006493.4(CLN5):c.579C>A (p.Asn193Lys) rs138611001
NM_006493.4(CLN5):c.594_597del (p.Lys197_Trp198insTer)
NM_006493.4(CLN5):c.625T>G (p.Tyr209Asp) rs386833981
NM_006493.4(CLN5):c.639T>A (p.Asn213Lys) rs1312706135
NM_006493.4(CLN5):c.642A>T (p.Val214=) rs751496223
NM_006493.4(CLN5):c.654A>C (p.Pro218=) rs752406072
NM_006493.4(CLN5):c.656A>C (p.Glu219Ala) rs11842935
NM_006493.4(CLN5):c.661G>C (p.Gly221Arg) rs755669847
NM_006493.4(CLN5):c.665_672dup (p.Trp225fs) rs1555274337
NM_006493.4(CLN5):c.675G>A (p.Trp225Ter) rs1555274338
NM_006493.4(CLN5):c.675G>C (p.Trp225Cys)
NM_006493.4(CLN5):c.688G>A (p.Asp230Asn) rs28940280
NM_006493.4(CLN5):c.702T>G (p.Phe234Leu)
NM_006493.4(CLN5):c.703_704GT[1] (p.Leu236fs) rs1555274343
NM_006493.4(CLN5):c.704T>C (p.Val235Ala) rs535755345
NM_006493.4(CLN5):c.705G>A (p.Val235=) rs116531784
NM_006493.4(CLN5):c.713_720del (p.Thr238fs) rs1555274344
NM_006493.4(CLN5):c.772del (p.Arg258fs) rs386833982
NM_006493.4(CLN5):c.775_776AT[1] (p.Phe260fs) rs786204644
NM_006493.4(CLN5):c.788G>A (p.Ser263Asn) rs730882146
NM_006493.4(CLN5):c.793G>T (p.Glu265Ter) rs764495616
NM_006493.4(CLN5):c.808_823del (p.Gly270fs) rs386833983
NM_006493.4(CLN5):c.812A>G (p.Asn271Ser) rs199609750
NM_006493.4(CLN5):c.838_841del (p.Gly280fs) rs1555274365
NM_006493.4(CLN5):c.869G>T (p.Arg290Ile) rs770688728
NM_006493.4(CLN5):c.879C>A (p.Tyr293Ter) rs386833963
NM_006493.4(CLN5):c.904A>G (p.Lys302Glu) rs1060502320
NM_006493.4(CLN5):c.906del (p.Glu303fs) rs1555274369
NM_006493.4(CLN5):c.907G>T (p.Glu303Ter) rs121908292
NM_006493.4(CLN5):c.917del (p.Leu305_Leu306insTer) rs1555274373
NM_006493.4(CLN5):c.922_923CT[1] (p.Leu309fs) rs386833964
NM_006493.4(CLN5):c.925_926del (p.Leu309fs) rs386833965
NM_006493.4(CLN5):c.935T>C (p.Phe312Ser)
NM_006493.4(CLN5):c.936del (p.Phe312fs) rs386833966
NM_006493.4(CLN5):c.956A>G (p.Lys319Arg) rs1800209
NM_006493.4(CLN5):c.956_959del (p.Lys319fs) rs386833967
NM_006493.4(CLN5):c.958C>T (p.Gln320Ter) rs750935331
NM_006493.4(CLN5):c.960G>C (p.Gln320His)
NM_006493.4(CLN5):c.974A>G (p.Tyr325Cys) rs148862100
NM_006493.4(CLN5):c.990G>T (p.Trp330Cys) rs386833968
NM_006493.4(CLN5):c.995del (p.Leu332fs) rs1555274387

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