ClinVar Miner

List of variants in gene CLN8 reported as likely benign for cerebral lipidosis with dementia

Included ClinVar conditions (32):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 214
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HGVS dbSNP gnomAD frequency
NM_018941.4(CLN8):c.-123-4T>C rs114189810 0.00505
NM_018941.4(CLN8):c.777T>C (p.Asn259=) rs34814682 0.00334
NM_018941.4(CLN8):c.290G>A (p.Arg97His) rs116605307 0.00236
NM_018941.4(CLN8):c.11C>T (p.Ala4Val) rs147181589 0.00175
NM_018941.4(CLN8):c.374A>G (p.Asn125Ser) rs142269885 0.00083
NM_018941.4(CLN8):c.513C>G (p.Pro171=) rs376910635 0.00073
NM_018941.4(CLN8):c.779C>T (p.Pro260Leu) rs146579299 0.00068
NM_018941.4(CLN8):c.546G>A (p.Ala182=) rs144047076 0.00064
NM_018941.4(CLN8):c.806A>T (p.Glu269Val) rs139003032 0.00016
NM_018941.4(CLN8):c.207G>A (p.Thr69=) rs368365607 0.00014
NM_018941.4(CLN8):c.333G>A (p.Thr111=) rs377273687 0.00012
NM_018941.4(CLN8):c.725C>T (p.Thr242Met) rs138821993 0.00010
NM_018941.4(CLN8):c.15C>T (p.Ser5=) rs374597781 0.00008
NM_018941.4(CLN8):c.300G>A (p.Gln100=) rs148988002 0.00008
NM_018941.4(CLN8):c.522C>T (p.Cys174=) rs148417620 0.00008
NM_018941.4(CLN8):c.796G>A (p.Ala266Thr) rs766292710 0.00008
NM_018941.4(CLN8):c.510G>A (p.Thr170=) rs759153401 0.00006
NM_018941.4(CLN8):c.708C>T (p.Val236=) rs200760828 0.00006
NM_018941.4(CLN8):c.246G>A (p.Leu82=) rs144015378 0.00005
NM_018941.4(CLN8):c.666G>A (p.Leu222=) rs532934034 0.00005
NM_018941.4(CLN8):c.279C>T (p.Ala93=) rs372313992 0.00004
NM_018941.4(CLN8):c.523G>A (p.Val175Ile) rs768139689 0.00004
NM_018941.4(CLN8):c.270G>A (p.Val90=) rs561448346 0.00003
NM_018941.4(CLN8):c.288G>A (p.Ala96=) rs533351136 0.00003
NM_018941.4(CLN8):c.543+17G>T rs370471193 0.00003
NM_018941.4(CLN8):c.582G>A (p.Gln194=) rs139824802 0.00003
NM_018941.4(CLN8):c.66G>C (p.Gly22=) rs763583156 0.00003
NM_018941.4(CLN8):c.726G>A (p.Thr242=) rs200529220 0.00003
NM_018941.4(CLN8):c.111C>T (p.Gly37=) rs753430388 0.00002
NM_018941.4(CLN8):c.147G>A (p.Leu49=) rs555757531 0.00002
NM_018941.4(CLN8):c.222T>C (p.Gly74=) rs966203442 0.00002
NM_018941.4(CLN8):c.558G>A (p.Glu186=) rs769282149 0.00002
NM_018941.4(CLN8):c.660C>T (p.Asp220=) rs768136048 0.00002
NM_018941.4(CLN8):c.840G>C (p.Leu280=) rs762035651 0.00002
NM_018941.4(CLN8):c.126C>T (p.Cys42=) rs192196274 0.00001
NM_018941.4(CLN8):c.151G>A (p.Ala51Thr) rs777453297 0.00001
NM_018941.4(CLN8):c.186C>T (p.Val62=) rs1057522154 0.00001
NM_018941.4(CLN8):c.18T>C (p.Asp6=) rs1464108080 0.00001
NM_018941.4(CLN8):c.21G>C (p.Gly7=) rs751762914 0.00001
NM_018941.4(CLN8):c.256C>T (p.Leu86=) rs755248868 0.00001
NM_018941.4(CLN8):c.27A>C (p.Thr9=) rs750274455 0.00001
NM_018941.4(CLN8):c.324G>A (p.Thr108=) rs148124161 0.00001
NM_018941.4(CLN8):c.397T>C (p.Leu133=) rs1419342894 0.00001
NM_018941.4(CLN8):c.408T>A (p.Val136=) rs535963507 0.00001
NM_018941.4(CLN8):c.543+9A>G rs982453047 0.00001
NM_018941.4(CLN8):c.555C>T (p.Ser185=) rs145929862 0.00001
NM_018941.4(CLN8):c.562C>T (p.Leu188=) rs587780318 0.00001
NM_018941.4(CLN8):c.609C>T (p.Cys203=) rs765382699 0.00001
NM_018941.4(CLN8):c.720G>A (p.Leu240=) rs779630521 0.00001
NM_018941.4(CLN8):c.741A>G (p.Pro247=) rs1470652667 0.00001
NM_018941.4(CLN8):c.753T>C (p.His251=) rs1801680845 0.00001
NM_018941.4(CLN8):c.75C>T (p.Ser25=) rs1276904511 0.00001
NM_018941.4(CLN8):c.780G>A (p.Pro260=) rs761984333 0.00001
NM_018941.4(CLN8):c.78G>A (p.Thr26=) rs933753788 0.00001
NM_018941.4(CLN8):c.795C>T (p.Phe265=) rs760610632 0.00001
NM_018941.4(CLN8):c.804A>C (p.Pro268=) rs746305311 0.00001
NM_018941.4(CLN8):c.831C>T (p.Asn277=) rs200083273 0.00001
NM_018941.4(CLN8):c.843G>A (p.Leu281=) rs367703234 0.00001
NM_018941.4(CLN8):c.846G>A (p.Arg282=) rs1801686237 0.00001
NM_018941.4(CLN8):c.849G>A (p.Lys283=) rs753758120 0.00001
NM_018941.4(CLN8):c.858A>G (p.Pro286=) rs764673534 0.00001
NM_018941.4(CLN8):c.87C>T (p.Val29=) rs753737213 0.00001
NM_018941.4(CLN8):c.90T>C (p.Ala30=) rs376382403 0.00001
NM_018941.4(CLN8):c.9T>C (p.Pro3=) rs773997032 0.00001
NM_018941.4(CLN8):c.102C>T (p.Phe34=) rs2130990585
NM_018941.4(CLN8):c.111C>A (p.Gly37=) rs753430388
NM_018941.4(CLN8):c.114C>A (p.Val38=) rs1585137545
NM_018941.4(CLN8):c.114C>G (p.Val38=) rs1585137545
NM_018941.4(CLN8):c.123C>G (p.Val41=)
NM_018941.4(CLN8):c.123C>T (p.Val41=) rs1801286645
NM_018941.4(CLN8):c.12G>A (p.Ala4=) rs368792081
NM_018941.4(CLN8):c.12G>C (p.Ala4=)
NM_018941.4(CLN8):c.12G>T (p.Ala4=) rs368792081
NM_018941.4(CLN8):c.135G>A (p.Leu45=) rs766132197
NM_018941.4(CLN8):c.135G>C (p.Leu45=)
NM_018941.4(CLN8):c.144C>A (p.Ser48=) rs2130990822
NM_018941.4(CLN8):c.145C>T (p.Leu49=)
NM_018941.4(CLN8):c.153C>G (p.Ala51=)
NM_018941.4(CLN8):c.159C>T (p.Tyr53=) rs780551031
NM_018941.4(CLN8):c.174C>T (p.Ala58=)
NM_018941.4(CLN8):c.180G>A (p.Glu60=) rs2130990994
NM_018941.4(CLN8):c.201G>A (p.Ala67=) rs575820157
NM_018941.4(CLN8):c.204C>T (p.Ala68=)
NM_018941.4(CLN8):c.210T>C (p.Arg70=) rs2130991152
NM_018941.4(CLN8):c.213A>C (p.Ala71=)
NM_018941.4(CLN8):c.213A>G (p.Ala71=) rs763671368
NM_018941.4(CLN8):c.216C>G (p.Val72=)
NM_018941.4(CLN8):c.21G>A (p.Gly7=) rs751762914
NM_018941.4(CLN8):c.228G>A (p.Gln76=) rs1585137825
NM_018941.4(CLN8):c.231C>T (p.Ser77=) rs1408818831
NM_018941.4(CLN8):c.234A>G (p.Thr78=) rs1450867136
NM_018941.4(CLN8):c.237C>T (p.Ala79=) rs1362205695
NM_018941.4(CLN8):c.244C>T (p.Leu82=)
NM_018941.4(CLN8):c.246G>C (p.Leu82=) rs144015378
NM_018941.4(CLN8):c.246G>T (p.Leu82=)
NM_018941.4(CLN8):c.258G>A (p.Leu86=)
NM_018941.4(CLN8):c.261G>A (p.Gly87=)
NM_018941.4(CLN8):c.273G>A (p.Leu91=) rs878855052
NM_018941.4(CLN8):c.273G>T (p.Leu91=) rs878855052
NM_018941.4(CLN8):c.291T>C (p.Arg97=)
NM_018941.4(CLN8):c.297G>A (p.Gln99=) rs1057521001
NM_018941.4(CLN8):c.303C>T (p.Asn101=) rs755831055
NM_018941.4(CLN8):c.321C>T (p.Ile107=) rs2130991748
NM_018941.4(CLN8):c.324G>T (p.Thr108=)
NM_018941.4(CLN8):c.327A>G (p.Thr109=)
NM_018941.4(CLN8):c.330A>G (p.Ala110=) rs2130991797
NM_018941.4(CLN8):c.336A>T (p.Gly112=) rs1585138188
NM_018941.4(CLN8):c.33G>A (p.Glu11=) rs2130990075
NM_018941.4(CLN8):c.345C>T (p.Cys115=)
NM_018941.4(CLN8):c.360A>G (p.Ala120=) rs2130991953
NM_018941.4(CLN8):c.363C>A (p.Val121=) rs568852954
NM_018941.4(CLN8):c.366C>T (p.His122=)
NM_018941.4(CLN8):c.367C>T (p.Leu123=) rs2130992011
NM_018941.4(CLN8):c.369G>A (p.Leu123=)
NM_018941.4(CLN8):c.372C>T (p.Ser124=) rs2130992027
NM_018941.4(CLN8):c.375C>T (p.Asn125=)
NM_018941.4(CLN8):c.376T>C (p.Leu126=)
NM_018941.4(CLN8):c.384C>T (p.Phe128=)
NM_018941.4(CLN8):c.387G>C (p.Arg129=) rs2130992139
NM_018941.4(CLN8):c.390A>C (p.Thr130=) rs181971599
NM_018941.4(CLN8):c.390A>G (p.Thr130=) rs181971599
NM_018941.4(CLN8):c.399G>A (p.Leu133=) rs948684101
NM_018941.4(CLN8):c.39T>A (p.Ile13=)
NM_018941.4(CLN8):c.405G>A (p.Leu135=)
NM_018941.4(CLN8):c.408T>C (p.Val136=) rs535963507
NM_018941.4(CLN8):c.411C>T (p.Ile137=) rs147224140
NM_018941.4(CLN8):c.420C>G (p.Leu140=) rs2130992308
NM_018941.4(CLN8):c.426C>T (p.Ala142=) rs1354416712
NM_018941.4(CLN8):c.429T>C (p.Phe143=)
NM_018941.4(CLN8):c.453C>G (p.Val151=) rs1801304769
NM_018941.4(CLN8):c.453C>T (p.Val151=)
NM_018941.4(CLN8):c.459C>A (p.Leu153=) rs1031756072
NM_018941.4(CLN8):c.459C>G (p.Leu153=) rs1031756072
NM_018941.4(CLN8):c.459C>T (p.Leu153=)
NM_018941.4(CLN8):c.462A>G (p.Gln154=) rs1366343262
NM_018941.4(CLN8):c.468C>G (p.Gly156=) rs2130992519
NM_018941.4(CLN8):c.474T>C (p.Tyr158=) rs2130992557
NM_018941.4(CLN8):c.475C>T (p.Leu159=) rs2130992571
NM_018941.4(CLN8):c.477A>G (p.Leu159=)
NM_018941.4(CLN8):c.486C>T (p.Thr162=) rs768531216
NM_018941.4(CLN8):c.489G>A (p.Thr163=) rs1585138564
NM_018941.4(CLN8):c.489G>T (p.Thr163=) rs1585138564
NM_018941.4(CLN8):c.48G>C (p.Leu16=) rs2130990190
NM_018941.4(CLN8):c.490T>C (p.Leu164=) rs2130992657
NM_018941.4(CLN8):c.495C>T (p.Leu165=) rs772106347
NM_018941.4(CLN8):c.496C>T (p.Leu166=)
NM_018941.4(CLN8):c.507C>T (p.Ser169=) rs386834131
NM_018941.4(CLN8):c.510G>C (p.Thr170=)
NM_018941.4(CLN8):c.510G>T (p.Thr170=) rs759153401
NM_018941.4(CLN8):c.513C>A (p.Pro171=)
NM_018941.4(CLN8):c.537C>T (p.Leu179=) rs2130992882
NM_018941.4(CLN8):c.543+12C>G
NM_018941.4(CLN8):c.543+12_543+20dup
NM_018941.4(CLN8):c.543+13A>C
NM_018941.4(CLN8):c.543+14T>G
NM_018941.4(CLN8):c.543+19A>C
NM_018941.4(CLN8):c.543+7G>A rs779967066
NM_018941.4(CLN8):c.543+9A>C rs982453047
NM_018941.4(CLN8):c.544-15C>T
NM_018941.4(CLN8):c.544-19T>G
NM_018941.4(CLN8):c.544-5T>C
NM_018941.4(CLN8):c.544-6A>C rs200435861
NM_018941.4(CLN8):c.544-6A>T
NM_018941.4(CLN8):c.544-8C>A
NM_018941.4(CLN8):c.546G>T (p.Ala182=) rs144047076
NM_018941.4(CLN8):c.555C>G (p.Ser185=)
NM_018941.4(CLN8):c.561T>A (p.Ser187=)
NM_018941.4(CLN8):c.561T>C (p.Ser187=)
NM_018941.4(CLN8):c.573G>A (p.Lys191=) rs1801671744
NM_018941.4(CLN8):c.576C>G (p.Leu192=)
NM_018941.4(CLN8):c.576C>T (p.Leu192=)
NM_018941.4(CLN8):c.57A>G (p.Ala19=) rs1256814205
NM_018941.4(CLN8):c.588G>A (p.Leu196=) rs2129015199
NM_018941.4(CLN8):c.588G>C (p.Leu196=) rs2129015199
NM_018941.4(CLN8):c.612C>T (p.Arg204=)
NM_018941.4(CLN8):c.618T>G (p.Val206=)
NM_018941.4(CLN8):c.624C>A (p.Thr208=) rs1257327513
NM_018941.4(CLN8):c.630C>T (p.His210=) rs1554451522
NM_018941.4(CLN8):c.663C>A (p.Gly221=)
NM_018941.4(CLN8):c.669C>G (p.Val223=) rs2129015252
NM_018941.4(CLN8):c.675C>T (p.Ser225=)
NM_018941.4(CLN8):c.678G>A (p.Leu226=)
NM_018941.4(CLN8):c.678G>C (p.Leu226=) rs1462963398
NM_018941.4(CLN8):c.682C>T (p.Leu228=) rs1585151658
NM_018941.4(CLN8):c.684G>C (p.Leu228=)
NM_018941.4(CLN8):c.693G>A (p.Leu231=) rs1470702469
NM_018941.4(CLN8):c.696A>G (p.Thr232=) rs1337045486
NM_018941.4(CLN8):c.697C>T (p.Leu233=)
NM_018941.4(CLN8):c.699G>C (p.Leu233=)
NM_018941.4(CLN8):c.702C>T (p.Phe234=) rs1264323379
NM_018941.4(CLN8):c.705T>G (p.Leu235=)
NM_018941.4(CLN8):c.714G>A (p.Leu238=)
NM_018941.4(CLN8):c.726G>C (p.Thr242=) rs200529220
NM_018941.4(CLN8):c.72C>T (p.Arg24=) rs767698401
NM_018941.4(CLN8):c.738T>C (p.Asn246=) rs2129015283
NM_018941.4(CLN8):c.744T>C (p.Tyr248=) rs2129015286
NM_018941.4(CLN8):c.750C>T (p.Thr250=)
NM_018941.4(CLN8):c.759G>A (p.Lys253=) rs1463644943
NM_018941.4(CLN8):c.774C>T (p.Leu258=) rs1801681630
NM_018941.4(CLN8):c.780G>C (p.Pro260=) rs761984333
NM_018941.4(CLN8):c.792C>T (p.Asn264=) rs587779411
NM_018941.4(CLN8):c.798A>C (p.Ala266=) rs754493769
NM_018941.4(CLN8):c.798A>G (p.Ala266=)
NM_018941.4(CLN8):c.804A>G (p.Pro268=) rs746305311
NM_018941.4(CLN8):c.810C>G (p.Ala270=)
NM_018941.4(CLN8):c.813G>A (p.Lys271=) rs947633775
NM_018941.4(CLN8):c.834G>A (p.Gly278=)
NM_018941.4(CLN8):c.838C>T (p.Leu280=) rs886043061
NM_018941.4(CLN8):c.841C>T (p.Leu281=)
NM_018941.4(CLN8):c.844C>A (p.Arg282=) rs587780898
NM_018941.4(CLN8):c.855G>A (p.Arg285=)
NM_018941.4(CLN8):c.861G>A (p.Ter287=)
NM_018941.4(CLN8):c.90T>G (p.Ala30=)
NM_018941.4(CLN8):c.93C>T (p.Gly31=)

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