ClinVar Miner

List of variants in gene CLN8 studied for adolescent-onset epilepsy syndrome

Included ClinVar conditions (80):
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Gene type:
ClinVar version:
Total variants: 94
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HGVS dbSNP
NC_000008.11:g.(?_1771035)_(1780587_?)del
NC_000008.11:g.(?_1771035)_(1780587_?)dup
NM_018941.3(CLN8):c.-123-1G>C rs1554448791
NM_018941.3(CLN8):c.106T>A (p.Leu36Met) rs1554448978
NM_018941.3(CLN8):c.108G>C (p.Leu36Phe) rs746677418
NM_018941.3(CLN8):c.117T>G (p.Phe39Leu)
NM_018941.3(CLN8):c.11C>T (p.Ala4Val) rs147181589
NM_018941.3(CLN8):c.126C>T (p.Cys42=) rs192196274
NM_018941.3(CLN8):c.140C>T (p.Ser47Phe)
NM_018941.3(CLN8):c.15C>T (p.Ser5=) rs374597781
NM_018941.3(CLN8):c.181_183del (p.Lys61del) rs386834123
NM_018941.3(CLN8):c.1A>G (p.Met1Val) rs143730802
NM_018941.3(CLN8):c.200C>T (p.Ala67Val) rs373957283
NM_018941.3(CLN8):c.204delC (p.Thr69Argfs) rs1554449028
NM_018941.3(CLN8):c.207G>A (p.Thr69=) rs368365607
NM_018941.3(CLN8):c.209G>A (p.Arg70His) rs386834124
NM_018941.3(CLN8):c.226C>T (p.Gln76Ter) rs1554449047
NM_018941.3(CLN8):c.227A>G (p.Gln76Arg) rs386834125
NM_018941.3(CLN8):c.246G>A (p.Leu82=) rs144015378
NM_018941.3(CLN8):c.263delA (p.Asp88Alafs) rs1057516582
NM_018941.3(CLN8):c.273G>A (p.Leu91=) rs878855052
NM_018941.3(CLN8):c.274C>T (p.His92Tyr) rs34030778
NM_018941.3(CLN8):c.279C>T (p.Ala93=) rs372313992
NM_018941.3(CLN8):c.283A>T (p.Lys95Ter) rs759830733
NM_018941.3(CLN8):c.290G>A (p.Arg97His) rs116605307
NM_018941.3(CLN8):c.2T>C (p.Met1Thr) rs1554448874
NM_018941.3(CLN8):c.306G>A (p.Trp102Ter) rs1554449124
NM_018941.3(CLN8):c.312G>A (p.Trp104Ter) rs1554449136
NM_018941.3(CLN8):c.320T>G (p.Ile107Ser) rs386834126
NM_018941.3(CLN8):c.324G>A (p.Thr108=) rs148124161
NM_018941.3(CLN8):c.331A>G (p.Thr111Ala)
NM_018941.3(CLN8):c.374A>G (p.Asn125Ser) rs142269885
NM_018941.3(CLN8):c.385C>T (p.Arg129Trp) rs143694317
NM_018941.3(CLN8):c.386G>A (p.Arg129Gln) rs571617007
NM_018941.3(CLN8):c.398T>A (p.Leu133Ter) rs554042394
NM_018941.3(CLN8):c.406G>T (p.Val136Phe) rs187297173
NM_018941.3(CLN8):c.408T>A (p.Val136=) rs535963507
NM_018941.3(CLN8):c.415C>T (p.His139Tyr) rs386834127
NM_018941.3(CLN8):c.464C>T (p.Ala155Val) rs386834128
NM_018941.3(CLN8):c.46C>A (p.Leu16Met) rs386834129
NM_018941.3(CLN8):c.470A>G (p.His157Arg) rs149308952
NM_018941.3(CLN8):c.473A>G (p.Tyr158Cys) rs386834130
NM_018941.3(CLN8):c.47delT (p.Leu16Argfs) rs1057516867
NM_018941.3(CLN8):c.499G>T (p.Glu167Ter) rs144495588
NM_018941.3(CLN8):c.507C>T (p.Ser169=) rs386834131
NM_018941.3(CLN8):c.509C>T (p.Thr170Met) rs188259026
NM_018941.3(CLN8):c.50A>G (p.Asp17Gly) rs148668081
NM_018941.3(CLN8):c.50delA (p.Asp17Alafs) rs1554448924
NM_018941.3(CLN8):c.53A>T (p.Tyr18Phe) rs142104002
NM_018941.3(CLN8):c.543+1G>T rs756267448
NM_018941.3(CLN8):c.544-2A>G rs1554451484
NM_018941.3(CLN8):c.545C>T (p.Ala182Val) rs541994118
NM_018941.3(CLN8):c.546G>A (p.Ala182=) rs144047076
NM_018941.3(CLN8):c.562_563delCT rs386834132
NM_018941.3(CLN8):c.581A>G (p.Gln194Arg) rs386834133
NM_018941.3(CLN8):c.594delT (p.His199Thrfs) rs1554451504
NM_018941.3(CLN8):c.59C>G (p.Ser20Cys) rs749651452
NM_018941.3(CLN8):c.610C>T (p.Arg204Cys) rs104894060
NM_018941.3(CLN8):c.611G>A (p.Arg204His) rs386834134
NM_018941.3(CLN8):c.611G>T (p.Arg204Leu) rs386834134
NM_018941.3(CLN8):c.614T>C (p.Met205Thr) rs763967636
NM_018941.3(CLN8):c.619C>G (p.Leu207Val) rs151334741
NM_018941.3(CLN8):c.630C>T (p.His210=) rs1554451522
NM_018941.3(CLN8):c.637_639delTGG (p.Trp213del) rs386834135
NM_018941.3(CLN8):c.661G>A (p.Gly221Ser) rs386834136
NM_018941.3(CLN8):c.666G>A (p.Leu222=) rs532934034
NM_018941.3(CLN8):c.66delG (p.Ile23Serfs) rs34238807
NM_018941.3(CLN8):c.681T>A (p.Tyr227Ter) rs1554451561
NM_018941.3(CLN8):c.685C>G (p.Pro229Ala) rs150047904
NM_018941.3(CLN8):c.697C>G (p.Leu233Val) rs1380901432
NM_018941.3(CLN8):c.703delC (p.Val236Serfs) rs761621368
NM_018941.3(CLN8):c.709G>A (p.Gly237Arg) rs746645358
NM_018941.3(CLN8):c.70C>G (p.Arg24Gly) rs104894064
NM_018941.3(CLN8):c.721C>G (p.Leu241Val) rs1554451594
NM_018941.3(CLN8):c.725C>T (p.Thr242Met) rs138821993
NM_018941.3(CLN8):c.726G>A (p.Thr242=) rs200529220
NM_018941.3(CLN8):c.763C>T (p.Gln255Ter) rs746397087
NM_018941.3(CLN8):c.766C>G (p.Gln256Glu) rs386834138
NM_018941.3(CLN8):c.776A>G (p.Asn259Ser) rs201956727
NM_018941.3(CLN8):c.777T>C (p.Asn259=) rs34814682
NM_018941.3(CLN8):c.779C>T (p.Pro260Leu) rs146579299
NM_018941.3(CLN8):c.77C>T (p.Thr26Met) rs755846977
NM_018941.3(CLN8):c.788G>A (p.Trp263Ter) rs878855053
NM_018941.3(CLN8):c.789G>C (p.Trp263Cys) rs28940569
NM_018941.3(CLN8):c.792C>G (p.Asn264Lys) rs587779411
NM_018941.3(CLN8):c.806A>T (p.Glu269Val) rs139003032
NM_018941.3(CLN8):c.823G>C (p.Glu275Gln) rs749774943
NM_018941.3(CLN8):c.832G>A (p.Gly278Arg)
NM_018941.3(CLN8):c.88G>C (p.Ala30Pro) rs137852883
NM_018941.3(CLN8):c.88delG (p.Ala30Leufs) rs386834139
NM_018941.3(CLN8):c.94T>C (p.Phe32Leu) rs758068226
NM_018941.3(CLN8):c.98T>C (p.Val33Ala)
NM_018941.3(CLN8):c.[208C>T;792C>G]
NM_018941.3(CLN8):c.[212C>T];[562_563delCT]

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