ClinVar Miner

List of variants in gene CLN5 studied for Neuronal ceroid lipofuscinosis 5

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Gene type:
ClinVar version:
Total variants: 179
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HGVS dbSNP gnomAD frequency
NM_006493.4(CLN5):c.956A>G (p.Lys319Arg) rs1800209 0.19521
NM_006493.4(CLN5):c.*292G>A rs700363 0.12838
NM_006493.4(CLN5):c.-144C>T rs77416795 0.12832
NM_006493.4(CLN5):c.*155C>T rs700365 0.09182
NM_006493.4(CLN5):c.*33A>G rs9573974 0.08077
NM_006493.4(CLN5):c.-76A>G rs7987664 0.07840
NM_006493.4(CLN5):c.*1279G>C rs9635010 0.04936
NM_006493.4(CLN5):c.1041T>C (p.Pro347=) rs36038805 0.03060
NM_006493.4(CLN5):c.*158C>G rs111327761 0.01567
NM_006493.4(CLN5):c.381T>G (p.Thr127=) rs34481987 0.01377
NM_006493.4(CLN5):c.*1132A>G rs80200123 0.01375
NM_006493.4(CLN5):c.579C>A (p.Asn193Lys) rs138611001 0.00910
NM_006493.4(CLN5):c.*180C>T rs700364 0.00556
NM_006493.4(CLN5):c.*1159G>A rs75441116 0.00513
NM_006493.4(CLN5):c.-87C>T rs200353554 0.00309
NM_006493.4(CLN5):c.*721G>A rs145949751 0.00286
NM_006493.4(CLN5):c.-99G>C rs202118652 0.00208
NM_006493.4(CLN5):c.*975G>A rs539756080 0.00118
NM_006493.4(CLN5):c.-146T>C rs201615354 0.00104
NM_006493.4(CLN5):c.*310T>C rs553934239 0.00064
NM_006493.4(CLN5):c.*468G>C rs752211672 0.00060
NM_006493.4(CLN5):c.459G>A (p.Met153Ile) rs144656959 0.00058
NM_006493.4(CLN5):c.5C>T (p.Ala2Val) rs146993892 0.00050
NM_006493.4(CLN5):c.265G>A (p.Asp89Asn) rs138110438 0.00034
NM_006493.4(CLN5):c.1045C>T (p.Pro349Ser) rs41287036 0.00026
NM_006493.4(CLN5):c.656A>C (p.Glu219Ala) rs11842935 0.00021
NM_006493.4(CLN5):c.*963T>G rs569028453 0.00017
NM_006493.4(CLN5):c.1026A>G (p.Thr342=) rs200637649 0.00011
NM_006493.4(CLN5):c.448C>T (p.Arg150Ter) rs546989392 0.00010
NM_006493.4(CLN5):c.-4C>T rs587780896 0.00009
NM_006493.4(CLN5):c.-83G>T rs576642281 0.00009
NM_006493.4(CLN5):c.1019A>C (p.Lys340Thr) rs745767054 0.00009
NM_006493.4(CLN5):c.812A>G (p.Asn271Ser) rs199609750 0.00009
NM_006493.2(CLN5):c.52C>T (p.Gln18Ter) rs773979248 0.00008
NM_006493.4(CLN5):c.569A>G (p.Asn190Ser) rs369100769 0.00007
NM_006493.4(CLN5):c.642A>T (p.Val214=) rs751496223 0.00007
NM_006493.4(CLN5):c.1048A>G (p.Ile350Val) rs762333226 0.00006
NM_006493.4(CLN5):c.662G>A (p.Gly221Glu) rs368428437 0.00006
NM_006493.4(CLN5):c.-21G>A rs529998879 0.00005
NM_006493.2(CLN5):c.-8G>A rs772316134 0.00004
NM_006493.4(CLN5):c.*636A>G rs755618302 0.00004
NM_006493.4(CLN5):c.*954T>C rs886050317 0.00004
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_006493.2(CLN5):c.116C>G (p.Ser39Trp) rs61504484 0.00003
NM_006493.2(CLN5):c.22G>C (p.Gly8Arg) rs762873839 0.00003
NM_006493.4(CLN5):c.-103G>T rs777933047 0.00003
NM_006493.4(CLN5):c.-123C>T rs767048749 0.00003
NM_006493.4(CLN5):c.-141C>T rs759859373 0.00003
NM_006493.4(CLN5):c.176G>A (p.Arg59His) rs753197537 0.00003
NM_006493.4(CLN5):c.371G>A (p.Ser124Asn) rs369122820 0.00003
NM_006493.4(CLN5):c.420A>G (p.Gln140=) rs753732321 0.00003
NM_006493.4(CLN5):c.424G>C (p.Gly142Arg) rs201464545 0.00003
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.572T>C (p.Met191Thr) rs771119692 0.00003
NM_006493.4(CLN5):c.869G>T (p.Arg290Ile) rs770688728 0.00003
NM_006493.2(CLN5):c.1A>C (p.Met1Leu) rs1268502139 0.00002
NM_006493.4(CLN5):c.*1169T>C rs573398552 0.00002
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.526A>G (p.Lys176Glu) rs142870036 0.00002
NM_006493.4(CLN5):c.*1490A>G rs771432165 0.00001
NM_006493.4(CLN5):c.*177A>C rs568174799 0.00001
NM_006493.4(CLN5):c.*609A>G rs1307852062 0.00001
NM_006493.4(CLN5):c.*614C>T rs1415756616 0.00001
NM_006493.4(CLN5):c.*833C>T rs926933589 0.00001
NM_006493.4(CLN5):c.-113G>T rs1465531119 0.00001
NM_006493.4(CLN5):c.-8G>A rs761576461 0.00001
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.342A>G (p.Lys114=) rs770149235 0.00001
NM_006493.4(CLN5):c.3G>A (p.Met1Ile) rs1464891081 0.00001
NM_006493.4(CLN5):c.430T>C (p.Cys144Arg) rs1593911055 0.00001
NM_006493.4(CLN5):c.490G>T (p.Ala164Ser) rs748549252 0.00001
NM_006493.4(CLN5):c.688G>A (p.Asp230Asn) rs28940280 0.00001
NM_006493.4(CLN5):c.764A>C (p.Asn255Thr) rs929479143 0.00001
NM_006493.4(CLN5):c.904A>G (p.Lys302Glu) rs1060502320 0.00001
NM_006493.4(CLN5):c.935T>C (p.Phe312Ser) rs201767993 0.00001
NM_006493.4(CLN5):c.974A>G (p.Tyr325Cys) rs148862100 0.00001
NM_006493.2(CLN5):c.116C>A (p.Ser39Ter) rs61504484
NM_006493.2(CLN5):c.1A>G (p.Met1Val) rs1268502139
NM_006493.2(CLN5):c.2T>A (p.Met1Lys) rs201615354
NM_006493.2(CLN5):c.52C>A (p.Gln18Lys) rs773979248
NM_006493.2(CLN5):c.70G>C (p.Gly24Arg)
NM_006493.4(CLN5):c.*163G>A rs994401189
NM_006493.4(CLN5):c.*263A>T rs562972188
NM_006493.4(CLN5):c.*269G>A rs137867457
NM_006493.4(CLN5):c.-7C>A rs1555273557
NM_006493.4(CLN5):c.-94A>T rs767480061
NM_006493.4(CLN5):c.-97del rs765323914
NM_006493.4(CLN5):c.-98G>T rs769990158
NM_006493.4(CLN5):c.1028_1029del (p.Thr342_Tyr343insTer) rs386833969
NM_006493.4(CLN5):c.1034_1037dup (p.Pro347fs) rs1555274391
NM_006493.4(CLN5):c.1048_1051dup (p.Arg351fs) rs1555274402
NM_006493.4(CLN5):c.1067_1068del (p.Ser356fs) rs796052345
NM_006493.4(CLN5):c.174-2A>G rs2034241585
NM_006493.4(CLN5):c.175C>T (p.Arg59Cys) rs765773686
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.208T>C (p.Cys70Arg) rs1593910113
NM_006493.4(CLN5):c.224C>G (p.Thr75Ser)
NM_006493.4(CLN5):c.230G>A (p.Cys77Tyr) rs267606738
NM_006493.4(CLN5):c.287G>A (p.Arg96Gln) rs201068201
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.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.377T>G (p.Leu126Ter) rs386833972
NM_006493.4(CLN5):c.380_381insA (p.Gly128fs) rs386833973
NM_006493.4(CLN5):c.398T>G (p.Met133Arg) rs1419308949
NM_006493.4(CLN5):c.400G>T (p.Glu134Ter)
NM_006493.4(CLN5):c.415T>C (p.Phe139Leu) rs794727507
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.431G>A (p.Cys144Tyr) rs1566219136
NM_006493.4(CLN5):c.431_432del (p.Cys144fs)
NM_006493.4(CLN5):c.434C>A (p.Thr145Lys)
NM_006493.4(CLN5):c.438del (p.His148fs) rs1555273992
NM_006493.4(CLN5):c.446T>C (p.Leu149Pro) rs386833976
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.475T>C (p.Cys159Arg) rs2154034738
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.547C>T (p.Gln183Ter) rs869312751
NM_006493.4(CLN5):c.553_561del (p.Ala185_Ile187del) rs1555274012
NM_006493.4(CLN5):c.565+1G>A rs1555274014
NM_006493.4(CLN5):c.565+2dup rs1476787722
NM_006493.4(CLN5):c.566-42_*46del rs1555274312
NM_006493.4(CLN5):c.566-7A>G rs772501269
NM_006493.4(CLN5):c.580C>T (p.Gln194Ter) rs2154035107
NM_006493.4(CLN5):c.594_597del (p.Lys197_Trp198insTer) rs1593914689
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.639_640insTT (p.Val214fs)
NM_006493.4(CLN5):c.661G>C (p.Gly221Arg) rs755669847
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.704T>C (p.Val235Ala) rs535755345
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.772del (p.Arg258fs) rs386833982
NM_006493.4(CLN5):c.773G>T (p.Arg258Ile) rs376675270
NM_006493.4(CLN5):c.777_778del (p.Phe260fs) rs786204644
NM_006493.4(CLN5):c.788G>A (p.Ser263Asn) rs730882146
NM_006493.4(CLN5):c.793G>T (p.Glu265Ter) rs764495616
NM_006493.4(CLN5):c.806T>G (p.Leu269Arg) rs2034345372
NM_006493.4(CLN5):c.808_823del (p.Gly270fs) rs386833983
NM_006493.4(CLN5):c.812del (p.Asn271fs) rs2154035159
NM_006493.4(CLN5):c.838_841del (p.Gly280fs) rs1555274365
NM_006493.4(CLN5):c.864A>G (p.Ile288Met) rs1375890703
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.917del (p.Leu305_Leu306insTer) rs1555274373
NM_006493.4(CLN5):c.920G>A (p.Ser307Asn) rs1555274374
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.963C>T (p.Phe321=) rs756149425
NM_006493.4(CLN5):c.965_968del (p.Tyr322fs) rs2034349431
NM_006493.4(CLN5):c.969_972del (p.Leu323fs)
NM_006493.4(CLN5):c.981del (p.Phe327fs) rs2154035202
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

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