ClinVar Miner

List of variants in gene CLN5 reported as likely pathogenic for late infantile neuronal ceroid lipofuscinosis

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 82
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HGVS dbSNP gnomAD frequency
NM_006493.4(CLN5):c.448C>T (p.Arg150Ter) rs546989392 0.00010
NM_006493.4(CLN5):c.524G>A (p.Trp175Ter) rs386833980 0.00004
NM_006493.4(CLN5):c.838G>T (p.Gly280Ter) rs768449493 0.00004
NM_006493.4(CLN5):c.522dup (p.Trp175fs) rs386833979 0.00003
NM_006493.4(CLN5):c.286C>T (p.Arg96Ter) rs386833971 0.00002
NM_006493.4(CLN5):c.339+5G>C rs202146713 0.00002
NM_006493.4(CLN5):c.187C>T (p.Arg63Cys) rs786205211 0.00001
NM_006493.4(CLN5):c.188G>A (p.Arg63His) rs104894386 0.00001
NM_006493.4(CLN5):c.688G>A (p.Asp230Asn) rs28940280 0.00001
NM_006493.4(CLN5):c.974A>G (p.Tyr325Cys) rs148862100 0.00001
NM_006493.4(CLN5):c.1026dup (p.Tyr343fs)
NM_006493.4(CLN5):c.174-2A>G rs2034241585
NM_006493.4(CLN5):c.187del (p.Arg63fs) rs1555273881
NM_006493.4(CLN5):c.188G>C (p.Arg63Pro) rs104894386
NM_006493.4(CLN5):c.18del (p.Asp6fs) rs1555273567
NM_006493.4(CLN5):c.191del (p.Pro64fs) rs1555273882
NM_006493.4(CLN5):c.207_213del (p.Pro68_Tyr69insTer) rs2034242246
NM_006493.4(CLN5):c.306G>A (p.Trp102Ter)
NM_006493.4(CLN5):c.338T>A (p.Leu113Ter)
NM_006493.4(CLN5):c.340-1del rs1057516390
NM_006493.4(CLN5):c.340-52_365delinsTAACGGG
NM_006493.4(CLN5):c.342_346dup (p.Met116fs)
NM_006493.4(CLN5):c.350A>C (p.His117Pro)
NM_006493.4(CLN5):c.361G>A (p.Gly121Arg)
NM_006493.4(CLN5):c.365T>C (p.Phe122Ser)
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.400G>T (p.Glu134Ter)
NM_006493.4(CLN5):c.418C>T (p.Gln140Ter) rs386833974
NM_006493.4(CLN5):c.428A>G (p.Asn143Ser) rs386833975
NM_006493.4(CLN5):c.429del (p.Cys144fs)
NM_006493.4(CLN5):c.431_432del (p.Cys144fs)
NM_006493.4(CLN5):c.438del (p.His148fs) rs1555273992
NM_006493.4(CLN5):c.441_442dup (p.His148fs)
NM_006493.4(CLN5):c.446T>C (p.Leu149Pro) rs386833976
NM_006493.4(CLN5):c.465_499delinsTCCCATCAA (p.Phe157fs)
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.474del (p.Trp158fs)
NM_006493.4(CLN5):c.510_514dup (p.Asp172fs) rs1555274005
NM_006493.4(CLN5):c.525G>A (p.Trp175Ter)
NM_006493.4(CLN5):c.525del (p.His174_Trp175insTer) rs587780315
NM_006493.4(CLN5):c.565+1G>A rs1555274014
NM_006493.4(CLN5):c.594G>A (p.Trp198Ter) rs2034339711
NM_006493.4(CLN5):c.594_597del (p.Lys197_Trp198insTer) rs1593914689
NM_006493.4(CLN5):c.609del (p.Asn203fs)
NM_006493.4(CLN5):c.618_619insCT (p.Ile207fs)
NM_006493.4(CLN5):c.625T>G (p.Tyr209Asp) rs386833981
NM_006493.4(CLN5):c.626A>G (p.Tyr209Cys)
NM_006493.4(CLN5):c.627T>A (p.Tyr209Ter)
NM_006493.4(CLN5):c.655G>T (p.Glu219Ter)
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.705_706del (p.Leu236fs) rs1555274343
NM_006493.4(CLN5):c.713_720del (p.Thr238fs) rs1555274344
NM_006493.4(CLN5):c.717dup (p.Asn240Ter)
NM_006493.4(CLN5):c.762_765del (p.Asn255fs)
NM_006493.4(CLN5):c.772del (p.Arg258fs) rs386833982
NM_006493.4(CLN5):c.777_778del (p.Phe260fs) rs786204644
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.828del (p.Phe276fs)
NM_006493.4(CLN5):c.838_841del (p.Gly280fs) rs1555274365
NM_006493.4(CLN5):c.879C>A (p.Tyr293Ter) rs386833963
NM_006493.4(CLN5):c.906del (p.Glu303fs) rs1555274369
NM_006493.4(CLN5):c.907G>T (p.Glu303Ter) rs121908292
NM_006493.4(CLN5):c.913_914del (p.Leu305fs) rs2154035183
NM_006493.4(CLN5):c.917del (p.Leu305_Leu306insTer) rs1555274373
NM_006493.4(CLN5):c.924_925del (p.Leu309fs) rs386833964
NM_006493.4(CLN5):c.925_926del (p.Leu309fs) rs386833965
NM_006493.4(CLN5):c.936del (p.Phe312fs) rs386833966
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.968T>A (p.Leu323Ter)
NM_006493.4(CLN5):c.969_972del (p.Leu323fs)
NM_006493.4(CLN5):c.981del (p.Phe327fs) rs2154035202
NM_006493.4(CLN5):c.982G>T (p.Glu328Ter) rs2154035204
NM_006493.4(CLN5):c.987T>G (p.Tyr329Ter) rs2034349886
NM_006493.4(CLN5):c.990G>A (p.Trp330Ter) rs386833968
NM_006493.4(CLN5):c.990G>T (p.Trp330Cys) rs386833968
NM_006493.4(CLN5):c.995del (p.Leu332fs) rs1555274387
NM_006493.4(CLN5):c.997C>T (p.Pro333Ser)

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