ClinVar Miner

List of variants in gene CLN5 reported as pathogenic for cerebral lipidosis with dementia

Included ClinVar conditions (32):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 66
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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.487G>A (p.Ala163Thr) rs148544801 0.00003
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.188G>A (p.Arg63His) rs104894386 0.00001
NM_006493.4(CLN5):c.688G>A (p.Asp230Asn) rs28940280 0.00001
NC_000013.11:g.(?_76995053)_(76996137_?)del
NM_001366624.2(CLN5):c.*43G>A rs2034339711
NM_006493.4(CLN5):c.1014del (p.Phe338fs)
NM_006493.4(CLN5):c.1028_1029del (p.Thr342_Tyr343insTer) rs386833969
NM_006493.4(CLN5):c.187del (p.Arg63fs) rs1555273881
NM_006493.4(CLN5):c.188G>C (p.Arg63Pro) rs104894386
NM_006493.4(CLN5):c.207_213del (p.Pro68_Tyr69insTer) rs2034242246
NM_006493.4(CLN5):c.216del (p.Lys73fs)
NM_006493.4(CLN5):c.242C>A (p.Ser81Ter)
NM_006493.4(CLN5):c.251_252del (p.Pro84fs) rs2154034636
NM_006493.4(CLN5):c.377T>G (p.Leu126Ter) rs386833972
NM_006493.4(CLN5):c.404G>A (p.Trp135Ter) rs2154034716
NM_006493.4(CLN5):c.428A>G (p.Asn143Ser) rs386833975
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.525del (p.His174_Trp175insTer) rs587780315
NM_006493.4(CLN5):c.529G>T (p.Glu177Ter)
NM_006493.4(CLN5):c.547C>T (p.Gln183Ter) rs869312751
NM_006493.4(CLN5):c.566_*1548del (p.Gly189fs)
NM_006493.4(CLN5):c.580C>T (p.Gln194Ter) rs2154035107
NM_006493.4(CLN5):c.599_600insCA (p.Lys200fs) rs2154035111
NM_006493.4(CLN5):c.606_618del (p.Asp202fs)
NM_006493.4(CLN5):c.623_627del (p.Ile207_Tyr208insTer)
NM_006493.4(CLN5):c.627T>G (p.Tyr209Ter) rs763980789
NM_006493.4(CLN5):c.636G>A (p.Trp212Ter)
NM_006493.4(CLN5):c.653dup (p.Glu219fs)
NM_006493.4(CLN5):c.675G>A (p.Trp225Ter) rs1555274338
NM_006493.4(CLN5):c.679del (p.Asp227fs) rs2154035131
NM_006493.4(CLN5):c.687C>G (p.Tyr229Ter)
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.743_744dup (p.Phe249fs)
NM_006493.4(CLN5):c.764dup (p.Asn255fs)
NM_006493.4(CLN5):c.768T>G (p.Tyr256Ter)
NM_006493.4(CLN5):c.772del (p.Arg258fs) rs386833982
NM_006493.4(CLN5):c.777_778del (p.Phe260fs) rs786204644
NM_006493.4(CLN5):c.786C>G (p.Tyr262Ter)
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.812del (p.Asn271fs) rs2154035159
NM_006493.4(CLN5):c.827_828del (p.Phe276fs) rs2154035166
NM_006493.4(CLN5):c.838_841del (p.Gly280fs) rs1555274365
NM_006493.4(CLN5):c.844_845dup (p.Thr283fs) rs2034346369
NM_006493.4(CLN5):c.882dup (p.Phe295fs)
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.936del (p.Phe312fs) rs386833966
NM_006493.4(CLN5):c.956_957del (p.Lys319fs) rs2154035196
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.965_968del (p.Tyr322fs) rs2034349431
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.989G>A (p.Trp330Ter)
NM_006493.4(CLN5):c.990G>A (p.Trp330Ter) rs386833968

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