ClinVar Miner

List of variants in gene CLN5 reported as likely benign for lysosomal lipid storage disorder

Included ClinVar conditions (81):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 203
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HGVS dbSNP gnomAD frequency
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.-87C>T rs200353554 0.00309
NM_006493.4(CLN5):c.-99G>C rs202118652 0.00208
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.5C>T (p.Ala2Val) rs146993892 0.00050
NM_006493.4(CLN5):c.1026A>G (p.Thr342=) rs200637649 0.00011
NM_006493.4(CLN5):c.-4C>T rs587780896 0.00009
NM_006493.4(CLN5):c.417C>T (p.Phe139=) rs371229525 0.00009
NM_006493.4(CLN5):c.642A>T (p.Val214=) rs751496223 0.00007
NM_006493.4(CLN5):c.687C>T (p.Tyr229=) rs778480440 0.00005
NM_006493.4(CLN5):c.486C>T (p.Gly162=) rs769007858 0.00004
NM_006493.2(CLN5):c.54A>G (p.Gln18=) rs767480061 0.00003
NM_006493.4(CLN5):c.-103G>T rs777933047 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_006493.2(CLN5):c.117G>C (p.Ser39=) rs779934262 0.00002
NM_006493.2(CLN5):c.1A>C (p.Met1Leu) rs1268502139 0.00002
NM_006493.2(CLN5):c.57C>A (p.Gly19=) rs1057522685 0.00002
NM_006493.4(CLN5):c.1038C>T (p.Ile346=) rs571023549 0.00002
NM_006493.4(CLN5):c.1047T>A (p.Pro349=) rs775266818 0.00002
NM_006493.4(CLN5):c.333A>T (p.Gly111=) rs751611392 0.00002
NM_006493.4(CLN5):c.366C>T (p.Phe122=) rs374025536 0.00002
NM_006493.4(CLN5):c.627T>C (p.Tyr209=) rs763980789 0.00002
NM_006493.4(CLN5):c.654A>C (p.Pro218=) rs752406072 0.00002
NM_006493.4(CLN5):c.804T>C (p.Tyr268=) rs575331884 0.00002
NM_006493.4(CLN5):c.831G>T (p.Gly277=) rs749457168 0.00002
NM_006493.4(CLN5):c.915G>A (p.Leu305=) rs760172666 0.00002
NC_000013.11:g.76991969C>A rs1439964955 0.00001
NC_000013.11:g.76992020C>G rs1408667627 0.00001
NC_000013.11:g.76992044C>T rs958702453 0.00001
NC_000013.11:g.76992047C>T rs751917173 0.00001
NC_000013.11:g.76992077C>A rs1347085017 0.00001
NM_006493.2(CLN5):c.24G>A (p.Gly8=) rs751533177 0.00001
NM_006493.4(CLN5):c.-109T>A rs758802850 0.00001
NM_006493.4(CLN5):c.177C>T (p.Arg59=) rs1696247688 0.00001
NM_006493.4(CLN5):c.18C>T (p.Asp6=) rs1289582170 0.00001
NM_006493.4(CLN5):c.207T>C (p.Tyr69=) rs764103764 0.00001
NM_006493.4(CLN5):c.21G>T (p.Thr7=) rs1057521258 0.00001
NM_006493.4(CLN5):c.234A>C (p.Pro78=) rs998407254 0.00001
NM_006493.4(CLN5):c.24A>G (p.Ala8=) rs757756318 0.00001
NM_006493.4(CLN5):c.333A>G (p.Gly111=) rs751611392 0.00001
NM_006493.4(CLN5):c.339+11A>G rs755999018 0.00001
NM_006493.4(CLN5):c.342A>G (p.Lys114=) rs770149235 0.00001
NM_006493.4(CLN5):c.435A>G (p.Thr145=) rs1031492461 0.00001
NM_006493.4(CLN5):c.528G>A (p.Lys176=) rs776987374 0.00001
NM_006493.4(CLN5):c.565+15T>G rs751120160 0.00001
NM_006493.4(CLN5):c.565+20C>T rs780892019 0.00001
NM_006493.4(CLN5):c.618A>C (p.Gly206=) rs1240633550 0.00001
NM_006493.4(CLN5):c.724T>C (p.Leu242=) rs2034342969 0.00001
NM_006493.4(CLN5):c.925T>C (p.Leu309=) rs1316505069 0.00001
NC_000013.11:g.76991960G>A rs1389856811
NC_000013.11:g.76991966G>A rs949252072
NC_000013.11:g.76991969C>G rs1439964955
NC_000013.11:g.76991993C>T rs1259746826
NC_000013.11:g.76992014G>C rs1231942714
NC_000013.11:g.76992020C>T rs1408667627
NC_000013.11:g.76992023A>C rs7987664
NC_000013.11:g.76992026G>T rs2154034204
NC_000013.11:g.76992029G>C rs2154034206
NC_000013.11:g.76992050A>C rs1447037153
NC_000013.11:g.76992056G>A rs2154034220
NC_000013.11:g.76992059G>T rs1413474600
NC_000013.11:g.76992065C>G rs2154034221
NC_000013.11:g.76992068G>T rs779934262
NM_006493.2(CLN5):c.102G>A (p.Pro34=)
NM_006493.2(CLN5):c.102G>C (p.Pro34=)
NM_006493.2(CLN5):c.111G>A (p.Gln37=) rs1593906853
NM_006493.2(CLN5):c.117G>A (p.Ser39=)
NM_006493.2(CLN5):c.120A>G (p.Arg40=)
NM_006493.2(CLN5):c.129A>G (p.Gly43=)
NM_006493.2(CLN5):c.15G>C (p.Leu5=)
NM_006493.2(CLN5):c.19T>C (p.Leu7=)
NM_006493.2(CLN5):c.24G>T (p.Gly8=)
NM_006493.2(CLN5):c.2T>A (p.Met1Lys) rs201615354
NM_006493.2(CLN5):c.33T>C (p.Ser11=)
NM_006493.2(CLN5):c.36A>C (p.Gly12=)
NM_006493.2(CLN5):c.39T>C (p.Ala13=)
NM_006493.2(CLN5):c.45G>A (p.Ala15=)
NM_006493.2(CLN5):c.45G>C (p.Ala15=)
NM_006493.2(CLN5):c.48G>A (p.Gln16=)
NM_006493.2(CLN5):c.51G>A (p.Gly17=)
NM_006493.2(CLN5):c.51G>C (p.Gly17=) rs763032153
NM_006493.2(CLN5):c.51G>T (p.Gly17=)
NM_006493.2(CLN5):c.6C>G (p.Arg2=)
NM_006493.2(CLN5):c.78G>A (p.Ala26=)
NM_006493.4(CLN5):c.*269G>A rs137867457
NM_006493.4(CLN5):c.-10G>C rs1470454519
NM_006493.4(CLN5):c.-13T>C rs2034184700
NM_006493.4(CLN5):c.-1G>C rs2154034238
NM_006493.4(CLN5):c.-3C>T rs1593906921
NM_006493.4(CLN5):c.-7C>T
NM_006493.4(CLN5):c.1038C>A (p.Ile346=)
NM_006493.4(CLN5):c.1053A>G (p.Arg351=)
NM_006493.4(CLN5):c.1065C>A (p.Leu355=) rs1593915385
NM_006493.4(CLN5):c.1072T>C (p.Leu358=) rs2154035221
NM_006493.4(CLN5):c.15A>G (p.Val5=) rs2034185809
NM_006493.4(CLN5):c.174-19G>A
NM_006493.4(CLN5):c.174-20G>A
NM_006493.4(CLN5):c.174-3del rs777686161
NM_006493.4(CLN5):c.174-5A>G
NM_006493.4(CLN5):c.174-6T>C rs2154034620
NM_006493.4(CLN5):c.174-8_174-6del
NM_006493.4(CLN5):c.174-9_174-6del
NM_006493.4(CLN5):c.189T>C (p.Arg63=) rs2154034624
NM_006493.4(CLN5):c.192A>G (p.Pro64=)
NM_006493.4(CLN5):c.204T>G (p.Pro68=) rs2154034627
NM_006493.4(CLN5):c.213A>G (p.Gln71=)
NM_006493.4(CLN5):c.21G>A (p.Thr7=) rs1057521258
NM_006493.4(CLN5):c.21G>C (p.Thr7=) rs1057521258
NM_006493.4(CLN5):c.222T>C (p.Tyr74=) rs1389509356
NM_006493.4(CLN5):c.228C>T (p.Phe76=)
NM_006493.4(CLN5):c.231T>C (p.Cys77=)
NM_006493.4(CLN5):c.240C>T (p.Gly80=)
NM_006493.4(CLN5):c.24A>C (p.Ala8=) rs757756318
NM_006493.4(CLN5):c.270T>C (p.Asp90=) rs898862493
NM_006493.4(CLN5):c.289T>C (p.Leu97=)
NM_006493.4(CLN5):c.303A>G (p.Val101=)
NM_006493.4(CLN5):c.303A>T (p.Val101=) rs2154034645
NM_006493.4(CLN5):c.312T>C (p.Phe104=)
NM_006493.4(CLN5):c.321A>G (p.Gly107=)
NM_006493.4(CLN5):c.327C>A (p.Leu109=)
NM_006493.4(CLN5):c.336C>T (p.His112=) rs2034245418
NM_006493.4(CLN5):c.337T>C (p.Leu113=)
NM_006493.4(CLN5):c.339+13C>T rs2154034651
NM_006493.4(CLN5):c.339+15T>C
NM_006493.4(CLN5):c.339+17G>A
NM_006493.4(CLN5):c.339+19C>A
NM_006493.4(CLN5):c.339+7A>G
NM_006493.4(CLN5):c.340-12G>A rs1416088608
NM_006493.4(CLN5):c.340-8T>C rs2154034704
NM_006493.4(CLN5):c.351T>C (p.His117=)
NM_006493.4(CLN5):c.354T>C (p.Asp118=)
NM_006493.4(CLN5):c.375A>G (p.Thr125=)
NM_006493.4(CLN5):c.381T>A (p.Thr127=) rs34481987
NM_006493.4(CLN5):c.387G>A (p.Lys129=)
NM_006493.4(CLN5):c.393C>T (p.Tyr131=)
NM_006493.4(CLN5):c.411A>G (p.Glu137=)
NM_006493.4(CLN5):c.426C>G (p.Gly142=) rs2034259868
NM_006493.4(CLN5):c.441C>G (p.Pro147=)
NM_006493.4(CLN5):c.447C>T (p.Leu149=) rs1593911107
NM_006493.4(CLN5):c.450A>G (p.Arg150=)
NM_006493.4(CLN5):c.462T>C (p.Asp154=) rs2154034733
NM_006493.4(CLN5):c.465C>T (p.Ala155=) rs1480870613
NM_006493.4(CLN5):c.480T>C (p.Asn160=)
NM_006493.4(CLN5):c.486C>A (p.Gly162=)
NM_006493.4(CLN5):c.486C>G (p.Gly162=)
NM_006493.4(CLN5):c.489T>C (p.Ala163=) rs1593911173
NM_006493.4(CLN5):c.492C>T (p.Ala164=)
NM_006493.4(CLN5):c.495C>T (p.Cys165=) rs2034262211
NM_006493.4(CLN5):c.498T>C (p.Phe166=)
NM_006493.4(CLN5):c.513T>C (p.Asp171=)
NM_006493.4(CLN5):c.534T>C (p.Asn178=) rs1368956736
NM_006493.4(CLN5):c.555A>G (p.Ala185=) rs1422278737
NM_006493.4(CLN5):c.565+10G>A
NM_006493.4(CLN5):c.565+17T>C
NM_006493.4(CLN5):c.565+19G>C rs756731673
NM_006493.4(CLN5):c.565+7del rs2154034753
NM_006493.4(CLN5):c.566-14T>C
NM_006493.4(CLN5):c.566-15G>A
NM_006493.4(CLN5):c.566-15G>T
NM_006493.4(CLN5):c.566-15_566-11del rs771601428
NM_006493.4(CLN5):c.566-20_566-19insA
NM_006493.4(CLN5):c.566-7A>C
NM_006493.4(CLN5):c.566-7A>G rs772501269
NM_006493.4(CLN5):c.566-8T>A rs2154035102
NM_006493.4(CLN5):c.576C>T (p.Phe192=)
NM_006493.4(CLN5):c.588A>G (p.Ala196=)
NM_006493.4(CLN5):c.591G>A (p.Lys197=) rs1402613512
NM_006493.4(CLN5):c.597G>A (p.Val199=) rs2154035110
NM_006493.4(CLN5):c.606C>T (p.Asp202=) rs2154035112
NM_006493.4(CLN5):c.609T>C (p.Asn203=)
NM_006493.4(CLN5):c.615A>G (p.Thr205=) rs769662577
NM_006493.4(CLN5):c.639T>C (p.Asn213=)
NM_006493.4(CLN5):c.666A>G (p.Ala222=) rs1471280655
NM_006493.4(CLN5):c.669G>A (p.Glu223=)
NM_006493.4(CLN5):c.6G>T (p.Ala2=)
NM_006493.4(CLN5):c.705G>T (p.Val235=)
NM_006493.4(CLN5):c.714C>G (p.Thr238=) rs762726568
NM_006493.4(CLN5):c.720C>T (p.Asn240=) rs2154035139
NM_006493.4(CLN5):c.729T>C (p.Ala243=) rs1349247735
NM_006493.4(CLN5):c.762C>G (p.Thr254=) rs1195593976
NM_006493.4(CLN5):c.762C>T (p.Thr254=)
NM_006493.4(CLN5):c.768T>C (p.Tyr256=)
NM_006493.4(CLN5):c.771A>G (p.Thr257=) rs2154035148
NM_006493.4(CLN5):c.798T>C (p.Pro266=) rs2034345081
NM_006493.4(CLN5):c.849T>C (p.Thr283=)
NM_006493.4(CLN5):c.861C>T (p.Ala287=) rs2154035176
NM_006493.4(CLN5):c.867A>G (p.Lys289=) rs2154035177
NM_006493.4(CLN5):c.891A>G (p.Pro297=) rs2154035180
NM_006493.4(CLN5):c.903T>C (p.Thr301=) rs1161385670
NM_006493.4(CLN5):c.915G>T (p.Leu305=)
NM_006493.4(CLN5):c.921T>C (p.Ser307=)
NM_006493.4(CLN5):c.951G>A (p.Val317=) rs369238431
NM_006493.4(CLN5):c.954C>T (p.His318=)
NM_006493.4(CLN5):c.955_956delinsCG (p.Lys319Arg) rs2034348880
NM_006493.4(CLN5):c.957A>G (p.Lys319=) rs1422809171
NM_006493.4(CLN5):c.963C>T (p.Phe321=) rs756149425
NM_006493.4(CLN5):c.969G>A (p.Leu323=)
NM_006493.4(CLN5):c.975T>C (p.Tyr325=)
NM_006493.4(CLN5):c.978T>C (p.Asn326=) rs2154035200
NM_006493.4(CLN5):c.984A>G (p.Glu328=) rs1593915252

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