ClinVar Miner

List of variants in gene CLN8 reported as uncertain significance for Neuronal ceroid lipofuscinosis

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Gene type:
ClinVar version:
Total variants: 195
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HGVS dbSNP gnomAD frequency
NM_018941.4(CLN8):c.513C>G (p.Pro171=) rs376910635 0.00073
NM_018941.4(CLN8):c.112G>A (p.Val38Ile) rs370199508 0.00024
NM_018941.4(CLN8):c.619C>G (p.Leu207Val) rs151334741 0.00020
NM_018941.4(CLN8):c.50A>G (p.Asp17Gly) rs148668081 0.00019
NM_018941.4(CLN8):c.599T>C (p.Met200Thr) rs368646951 0.00011
NM_018941.4(CLN8):c.53A>T (p.Tyr18Phe) rs142104002 0.00010
NM_018941.4(CLN8):c.59C>G (p.Ser20Cys) rs749651452 0.00010
NM_018941.4(CLN8):c.725C>T (p.Thr242Met) rs138821993 0.00010
NM_018941.4(CLN8):c.776A>G (p.Asn259Ser) rs201956727 0.00010
NM_018941.4(CLN8):c.455A>G (p.Asn152Ser) rs138581191 0.00009
NM_018941.4(CLN8):c.300G>A (p.Gln100=) rs148988002 0.00008
NM_018941.4(CLN8):c.856C>T (p.Pro286Ser) rs759475160 0.00007
NM_018941.4(CLN8):c.287C>T (p.Ala96Val) rs775400768 0.00006
NM_018941.4(CLN8):c.108G>C (p.Leu36Phe) rs746677418 0.00004
NM_018941.4(CLN8):c.332C>T (p.Thr111Met) rs778188757 0.00004
NM_018941.4(CLN8):c.385C>T (p.Arg129Trp) rs143694317 0.00004
NM_018941.4(CLN8):c.386G>A (p.Arg129Gln) rs571617007 0.00004
NM_018941.4(CLN8):c.545C>T (p.Ala182Val) rs541994118 0.00004
NM_018941.4(CLN8):c.556G>A (p.Glu186Lys) rs756636772 0.00004
NM_018941.4(CLN8):c.661G>A (p.Gly221Ser) rs386834136 0.00004
NM_018941.4(CLN8):c.844C>T (p.Arg282Trp) rs587780898 0.00004
NM_018941.4(CLN8):c.137C>A (p.Ser46Tyr) rs1418349889 0.00003
NM_018941.4(CLN8):c.206C>T (p.Thr69Met) rs776409703 0.00003
NM_018941.4(CLN8):c.266C>G (p.Pro89Arg) rs919541697 0.00003
NM_018941.4(CLN8):c.470A>G (p.His157Arg) rs149308952 0.00003
NM_018941.4(CLN8):c.503T>C (p.Met168Thr) rs374031055 0.00003
NM_018941.4(CLN8):c.582G>A (p.Gln194=) rs139824802 0.00003
NM_018941.4(CLN8):c.585G>C (p.Trp195Cys) rs778435359 0.00003
NM_018941.4(CLN8):c.697C>G (p.Leu233Val) rs1380901432 0.00003
NM_018941.4(CLN8):c.94T>C (p.Phe32Leu) rs758068226 0.00003
NM_018941.4(CLN8):c.161G>A (p.Arg54His) rs372268977 0.00002
NM_018941.4(CLN8):c.284A>G (p.Lys95Arg) rs1432496931 0.00002
NM_018941.4(CLN8):c.289C>T (p.Arg97Cys) rs1285178214 0.00002
NM_018941.4(CLN8):c.411C>G (p.Ile137Met) rs147224140 0.00002
NM_018941.4(CLN8):c.598A>G (p.Met200Val) rs749595247 0.00002
NM_018941.4(CLN8):c.823G>C (p.Glu275Gln) rs749774943 0.00002
NM_018941.4(CLN8):c.837G>T (p.Gln279His) rs774442159 0.00002
NM_018941.4(CLN8):c.106T>A (p.Leu36Met) rs1554448978 0.00001
NM_018941.4(CLN8):c.109G>A (p.Gly37Ser) rs770240445 0.00001
NM_018941.4(CLN8):c.117T>G (p.Phe39Leu) rs201670636 0.00001
NM_018941.4(CLN8):c.140C>T (p.Ser47Phe) rs765158624 0.00001
NM_018941.4(CLN8):c.160C>T (p.Arg54Cys) rs769069643 0.00001
NM_018941.4(CLN8):c.16G>T (p.Asp6Tyr) rs200999640 0.00001
NM_018941.4(CLN8):c.17A>G (p.Asp6Gly) rs536738656 0.00001
NM_018941.4(CLN8):c.256C>T (p.Leu86=) rs755248868 0.00001
NM_018941.4(CLN8):c.305G>T (p.Trp102Leu) rs796052365 0.00001
NM_018941.4(CLN8):c.323C>T (p.Thr108Met) rs143701028 0.00001
NM_018941.4(CLN8):c.335G>T (p.Gly112Val) rs1304439072 0.00001
NM_018941.4(CLN8):c.364C>T (p.His122Tyr) rs746051539 0.00001
NM_018941.4(CLN8):c.406G>T (p.Val136Phe) rs187297173 0.00001
NM_018941.4(CLN8):c.41T>C (p.Phe14Ser) rs957551479 0.00001
NM_018941.4(CLN8):c.488C>T (p.Thr163Met) rs781099399 0.00001
NM_018941.4(CLN8):c.614T>C (p.Met205Thr) rs763967636 0.00001
NM_018941.4(CLN8):c.680A>T (p.Tyr227Phe) rs368561820 0.00001
NM_018941.4(CLN8):c.716C>T (p.Ala239Val) rs913988013 0.00001
NM_018941.4(CLN8):c.792C>G (p.Asn264Lys) rs587779411 0.00001
NM_018941.4(CLN8):c.832G>A (p.Gly278Arg) rs1358513612 0.00001
NM_018941.4(CLN8):c.845G>A (p.Arg282Gln) rs766172825 0.00001
NC_000008.10:g.(?_1719201)_(1728753_?)dup
NC_000008.10:g.(?_1719221)_(1728733_?)dup
NM_018941.4(CLN8):c.-125_-124+19dup rs1064793088
NM_018941.4(CLN8):c.112G>T (p.Val38Phe) rs370199508
NM_018941.4(CLN8):c.127C>T (p.His43Tyr) rs541840243
NM_018941.4(CLN8):c.15C>G (p.Ser5Arg) rs374597781
NM_018941.4(CLN8):c.160C>A (p.Arg54Ser)
NM_018941.4(CLN8):c.163T>G (p.Ser55Ala)
NM_018941.4(CLN8):c.16G>A (p.Asp6Asn) rs200999640
NM_018941.4(CLN8):c.16G>C (p.Asp6His) rs200999640
NM_018941.4(CLN8):c.182A>C (p.Lys61Thr)
NM_018941.4(CLN8):c.187T>C (p.Phe63Leu)
NM_018941.4(CLN8):c.18T>A (p.Asp6Glu) rs1464108080
NM_018941.4(CLN8):c.18T>G (p.Asp6Glu)
NM_018941.4(CLN8):c.194A>T (p.Asp65Val)
NM_018941.4(CLN8):c.19G>A (p.Gly7Arg) rs764099428
NM_018941.4(CLN8):c.209G>C (p.Arg70Pro) rs386834124
NM_018941.4(CLN8):c.20G>C (p.Gly7Ala)
NM_018941.4(CLN8):c.227A>C (p.Gln76Pro)
NM_018941.4(CLN8):c.229A>G (p.Ser77Gly)
NM_018941.4(CLN8):c.234A>G (p.Thr78=) rs1450867136
NM_018941.4(CLN8):c.236C>T (p.Ala79Val)
NM_018941.4(CLN8):c.238G>A (p.Ala80Thr) rs998922998
NM_018941.4(CLN8):c.23G>T (p.Gly8Val) rs781017885
NM_018941.4(CLN8):c.265C>A (p.Pro89Thr)
NM_018941.4(CLN8):c.265C>G (p.Pro89Ala) rs1486320972
NM_018941.4(CLN8):c.268G>T (p.Val90Leu)
NM_018941.4(CLN8):c.26C>T (p.Thr9Ile) rs1174240541
NM_018941.4(CLN8):c.274C>G (p.His92Asp) rs34030778
NM_018941.4(CLN8):c.278C>G (p.Ala93Gly) rs1468620144
NM_018941.4(CLN8):c.27A>G (p.Thr9=) rs750274455
NM_018941.4(CLN8):c.280G>A (p.Asp94Asn) rs143918546
NM_018941.4(CLN8):c.280G>C (p.Asp94His) rs143918546
NM_018941.4(CLN8):c.290G>T (p.Arg97Leu) rs116605307
NM_018941.4(CLN8):c.299A>G (p.Gln100Arg)
NM_018941.4(CLN8):c.29C>T (p.Ser10Leu) rs1454175058
NM_018941.4(CLN8):c.303C>G (p.Asn101Lys) rs755831055
NM_018941.4(CLN8):c.306G>C (p.Trp102Cys) rs1554449124
NM_018941.4(CLN8):c.312G>T (p.Trp104Cys) rs1554449136
NM_018941.4(CLN8):c.322A>G (p.Thr108Ala)
NM_018941.4(CLN8):c.331A>G (p.Thr111Ala) rs1563107925
NM_018941.4(CLN8):c.344G>C (p.Cys115Ser)
NM_018941.4(CLN8):c.353A>C (p.Asn118Thr)
NM_018941.4(CLN8):c.358G>T (p.Ala120Ser) rs1353274959
NM_018941.4(CLN8):c.359C>T (p.Ala120Val)
NM_018941.4(CLN8):c.35G>C (p.Ser12Thr) rs1775036577
NM_018941.4(CLN8):c.361G>A (p.Val121Ile) rs1223417396
NM_018941.4(CLN8):c.371C>A (p.Ser124Tyr) rs1198837795
NM_018941.4(CLN8):c.374A>T (p.Asn125Ile) rs142269885
NM_018941.4(CLN8):c.37A>G (p.Ile13Val) rs1563107126
NM_018941.4(CLN8):c.380T>G (p.Ile127Ser)
NM_018941.4(CLN8):c.382T>C (p.Phe128Leu) rs1801301214
NM_018941.4(CLN8):c.385C>G (p.Arg129Gly)
NM_018941.4(CLN8):c.389C>T (p.Thr130Ile) rs1165037847
NM_018941.4(CLN8):c.392T>G (p.Phe131Cys) rs1404214432
NM_018941.4(CLN8):c.399G>T (p.Leu133Phe) rs948684101
NM_018941.4(CLN8):c.39T>G (p.Ile13Met) rs1801279215
NM_018941.4(CLN8):c.415C>T (p.His139Tyr) rs386834127
NM_018941.4(CLN8):c.427T>G (p.Phe143Val) rs2130992340
NM_018941.4(CLN8):c.446G>A (p.Cys149Tyr)
NM_018941.4(CLN8):c.452T>C (p.Val151Ala) rs752026391
NM_018941.4(CLN8):c.457C>G (p.Leu153Val)
NM_018941.4(CLN8):c.46C>A (p.Leu16Met) rs386834129
NM_018941.4(CLN8):c.471C>G (p.His157Gln) rs1585138507
NM_018941.4(CLN8):c.485C>G (p.Thr162Ser) rs1554449289
NM_018941.4(CLN8):c.499G>A (p.Glu167Lys) rs144495588
NM_018941.4(CLN8):c.509C>G (p.Thr170Arg)
NM_018941.4(CLN8):c.50A>T (p.Asp17Val) rs148668081
NM_018941.4(CLN8):c.512C>G (p.Pro171Arg) rs1184115888
NM_018941.4(CLN8):c.518C>T (p.Thr173Ile)
NM_018941.4(CLN8):c.523G>C (p.Val175Leu) rs768139689
NM_018941.4(CLN8):c.53A>G (p.Tyr18Cys) rs142104002
NM_018941.4(CLN8):c.543+5G>C
NM_018941.4(CLN8):c.544-2A>C
NM_018941.4(CLN8):c.544G>A (p.Ala182Thr)
NM_018941.4(CLN8):c.550T>G (p.Trp184Gly) rs1801670539
NM_018941.4(CLN8):c.560C>G (p.Ser187Cys) rs775174607
NM_018941.4(CLN8):c.56C>T (p.Ala19Val) rs942360618
NM_018941.4(CLN8):c.571A>C (p.Lys191Gln) rs1801671671
NM_018941.4(CLN8):c.573G>C (p.Lys191Asn)
NM_018941.4(CLN8):c.578A>G (p.Asn193Ser)
NM_018941.4(CLN8):c.579C>A (p.Asn193Lys)
NM_018941.4(CLN8):c.582G>C (p.Gln194His) rs139824802
NM_018941.4(CLN8):c.583T>A (p.Trp195Arg) rs766924857
NM_018941.4(CLN8):c.586C>G (p.Leu196Val) rs1459482330
NM_018941.4(CLN8):c.598A>T (p.Met200Leu) rs749595247
NM_018941.4(CLN8):c.59C>T (p.Ser20Phe) rs749651452
NM_018941.4(CLN8):c.5A>G (p.Asn2Ser)
NM_018941.4(CLN8):c.606C>G (p.His202Gln)
NM_018941.4(CLN8):c.613A>G (p.Met205Val)
NM_018941.4(CLN8):c.616G>T (p.Val206Phe) rs751249766
NM_018941.4(CLN8):c.630C>G (p.His210Gln)
NM_018941.4(CLN8):c.631A>T (p.Met211Leu)
NM_018941.4(CLN8):c.632T>C (p.Met211Thr)
NM_018941.4(CLN8):c.636G>C (p.Trp212Cys)
NM_018941.4(CLN8):c.639G>C (p.Trp213Cys)
NM_018941.4(CLN8):c.648C>T (p.Phe216=) rs564074916
NM_018941.4(CLN8):c.650G>C (p.Trp217Ser)
NM_018941.4(CLN8):c.667G>C (p.Val223Leu) rs1801676517
NM_018941.4(CLN8):c.682C>G (p.Leu228Val) rs1585151658
NM_018941.4(CLN8):c.686C>T (p.Pro229Leu)
NM_018941.4(CLN8):c.690T>G (p.His230Gln)
NM_018941.4(CLN8):c.694A>C (p.Thr232Pro)
NM_018941.4(CLN8):c.703C>T (p.Leu235Phe)
NM_018941.4(CLN8):c.706G>A (p.Val236Ile) rs371830719
NM_018941.4(CLN8):c.706G>C (p.Val236Leu)
NM_018941.4(CLN8):c.70C>T (p.Arg24Cys) rs104894064
NM_018941.4(CLN8):c.721C>G (p.Leu241Val) rs1554451594
NM_018941.4(CLN8):c.731T>C (p.Ile244Thr)
NM_018941.4(CLN8):c.732C>G (p.Ile244Met) rs747778614
NM_018941.4(CLN8):c.743A>G (p.Tyr248Cys)
NM_018941.4(CLN8):c.745T>C (p.Trp249Arg)
NM_018941.4(CLN8):c.763C>G (p.Gln255Glu) rs746397087
NM_018941.4(CLN8):c.76A>T (p.Thr26Ser)
NM_018941.4(CLN8):c.775A>G (p.Asn259Asp) rs1044299834
NM_018941.4(CLN8):c.776A>T (p.Asn259Ile) rs201956727
NM_018941.4(CLN8):c.77C>G (p.Thr26Arg) rs755846977
NM_018941.4(CLN8):c.77C>T (p.Thr26Met) rs755846977
NM_018941.4(CLN8):c.781G>A (p.Val261Met) rs1482950665
NM_018941.4(CLN8):c.782T>C (p.Val261Ala)
NM_018941.4(CLN8):c.796G>T (p.Ala266Ser)
NM_018941.4(CLN8):c.797C>T (p.Ala266Val)
NM_018941.4(CLN8):c.7C>T (p.Pro3Ser) rs767218890
NM_018941.4(CLN8):c.801G>C (p.Gln267His)
NM_018941.4(CLN8):c.801dup (p.Pro268fs)
NM_018941.4(CLN8):c.806A>G (p.Glu269Gly) rs139003032
NM_018941.4(CLN8):c.809C>T (p.Ala270Val) rs2129015316
NM_018941.4(CLN8):c.820C>T (p.Pro274Ser)
NM_018941.4(CLN8):c.827del (p.Gly276fs) rs1365308812
NM_018941.4(CLN8):c.830A>G (p.Asn277Ser)
NM_018941.4(CLN8):c.835C>T (p.Gln279Ter)
NM_018941.4(CLN8):c.845G>C (p.Arg282Pro) rs766172825
NM_018941.4(CLN8):c.851A>C (p.Lys284Thr) rs2129015342
NM_018941.4(CLN8):c.859dup (p.Ter287LeuextTer?) rs2129015346
NM_018941.4(CLN8):c.85G>T (p.Val29Phe)
NM_018941.4(CLN8):c.94T>G (p.Phe32Val) rs758068226
NM_018941.4(CLN8):c.97G>C (p.Val33Leu) rs1801284979

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