ClinVar Miner

List of variants studied for neuronal ceroid lipofuscinosis by Counsyl

Included ClinVar conditions (26):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 244
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_018941.4(CLN8):c.685C>G (p.Pro229Ala) rs150047904 0.00893
NM_006493.4(CLN5):c.-87C>T rs200353554 0.00309
NM_000391.4(TPP1):c.14C>A (p.Ala5Asp) rs138976576 0.00133
NM_017882.3(CLN6):c.5A>G (p.Glu2Gly) rs3743088 0.00042
NM_006493.4(CLN5):c.448C>T (p.Arg150Ter) rs546989392 0.00010
NM_000310.4(PPT1):c.541G>A (p.Val181Met) rs148412181 0.00006
NM_017882.3(CLN6):c.728C>T (p.Ala243Val) rs767164948 0.00006
NM_000310.4(PPT1):c.413C>T (p.Ser138Leu) rs386833646 0.00005
NM_000391.4(TPP1):c.1094G>A (p.Cys365Tyr) rs119455954 0.00005
NM_000391.4(TPP1):c.1125C>T (p.Arg375=) rs587780972 0.00005
NM_000310.4(PPT1):c.29T>A (p.Leu10Ter) rs137852699 0.00004
NM_000391.4(TPP1):c.225A>G (p.Gln75=) rs368709098 0.00004
NM_006493.4(CLN5):c.524G>A (p.Trp175Ter) rs386833980 0.00004
NM_017882.3(CLN6):c.601A>G (p.Lys201Glu) rs587780316 0.00004
NM_017882.3(CLN6):c.755G>A (p.Arg252His) rs374681194 0.00004
NM_018941.4(CLN8):c.499G>T (p.Glu167Ter) rs144495588 0.00004
NM_000310.4(PPT1):c.2T>C (p.Met1Thr) rs796052927 0.00003
NM_000391.4(TPP1):c.827A>T (p.Asp276Val) rs763162812 0.00003
NM_000391.4(TPP1):c.887-18A>G rs935526225 0.00003
NM_001042432.2(CLN3):c.295-2A>C rs1478660606 0.00003
NM_006493.4(CLN5):c.522dup (p.Trp175fs) rs386833979 0.00003
NM_017882.3(CLN6):c.13C>T (p.Arg5Trp) rs886285802 0.00003
NM_017882.3(CLN6):c.446G>A (p.Arg149His) rs154774638 0.00003
NM_018941.4(CLN8):c.470A>G (p.His157Arg) rs149308952 0.00003
NC_000013.11:g.76991952A>C rs1268502139 0.00002
NM_000310.4(PPT1):c.287G>A (p.Cys96Tyr) rs386833640 0.00002
NM_000391.4(TPP1):c.1424C>T (p.Ser475Leu) rs121908202 0.00002
NM_001042432.2(CLN3):c.1001G>A (p.Arg334His) rs386833695 0.00002
NM_001042432.2(CLN3):c.1054C>T (p.Gln352Ter) rs386833697 0.00002
NM_006493.4(CLN5):c.286C>T (p.Arg96Ter) rs386833971 0.00002
NM_017882.3(CLN6):c.150C>G (p.Tyr50Ter) rs154774640 0.00002
NM_017882.3(CLN6):c.308G>A (p.Arg103Gln) rs154774634 0.00002
NM_017882.3(CLN6):c.49G>A (p.Gly17Ser) rs763944821 0.00002
NM_018941.4(CLN8):c.543+1G>T rs756267448 0.00002
NM_000310.4(PPT1):c.*529_*530insATCG rs1475500814 0.00001
NM_000310.4(PPT1):c.272A>C (p.Gln91Pro) rs386833639 0.00001
NM_000310.4(PPT1):c.3G>A (p.Met1Ile) rs386833645 0.00001
NM_000310.4(PPT1):c.424C>T (p.Gln142Ter) rs796052925 0.00001
NM_000310.4(PPT1):c.490C>T (p.Arg164Ter) rs386833649 0.00001
NM_000310.4(PPT1):c.550G>A (p.Glu184Lys) rs386833655 0.00001
NM_000310.4(PPT1):c.628-1G>T rs386833659 0.00001
NM_000310.4(PPT1):c.722C>T (p.Ser241Leu) rs746043871 0.00001
NM_000310.4(PPT1):c.776dup (p.Glu260fs) rs1349528345 0.00001
NM_000391.4(TPP1):c.1525C>T (p.Gln509Ter) rs1184563885 0.00001
NM_000391.4(TPP1):c.1551+1G>C rs786204553 0.00001
NM_000391.4(TPP1):c.1552-1G>A rs1057516511 0.00001
NM_000391.4(TPP1):c.1642T>C (p.Trp548Arg) rs1348967263 0.00001
NM_000391.4(TPP1):c.229G>C (p.Gly77Arg) rs121908195 0.00001
NM_000391.4(TPP1):c.833A>G (p.Gln278Arg) rs796053439 0.00001
NM_001042432.2(CLN3):c.1198-1G>T rs386833702 0.00001
NM_001042432.2(CLN3):c.1256G>A (p.Gly419Glu) rs796052338 0.00001
NM_001042432.2(CLN3):c.1A>G (p.Met1Val) rs386833708 0.00001
NM_001042432.2(CLN3):c.47-1G>A rs1555469477 0.00001
NM_001042432.2(CLN3):c.837+5G>A rs756848924 0.00001
NM_001042432.2(CLN3):c.906+2T>A rs771788391 0.00001
NM_001042432.2(CLN3):c.963-1G>A rs386833742 0.00001
NM_006493.4(CLN5):c.187C>T (p.Arg63Cys) rs786205211 0.00001
NM_006493.4(CLN5):c.974A>G (p.Tyr325Cys) rs148862100 0.00001
NM_017882.3(CLN6):c.184C>T (p.Arg62Cys) rs1451777867 0.00001
NM_017882.3(CLN6):c.304G>A (p.Glu102Lys) rs796052352 0.00001
NM_017882.3(CLN6):c.486+1G>A rs756522171 0.00001
NM_017882.3(CLN6):c.509A>G (p.Tyr170Cys) rs750081097 0.00001
NM_017882.3(CLN6):c.837G>A (p.Trp279Ter) rs1555438212 0.00001
NM_017882.3(CLN6):c.896C>T (p.Pro299Leu) rs758921701 0.00001
NM_017882.3(CLN6):c.898T>C (p.Trp300Arg) rs750937323 0.00001
NM_018941.4(CLN8):c.209G>A (p.Arg70His) rs386834124 0.00001
NM_018941.4(CLN8):c.283A>T (p.Lys95Ter) rs759830733 0.00001
NM_018941.4(CLN8):c.610C>T (p.Arg204Cys) rs104894060 0.00001
NM_018941.4(CLN8):c.611G>A (p.Arg204His) rs386834134 0.00001
NM_018941.4(CLN8):c.709G>A (p.Gly237Arg) rs746645358 0.00001
NC_000013.11:g.76991953T>A rs201615354
NC_000015.9:g.68504037_68504039delGAT rs121908080
NM_000310.4(PPT1):c.*521_*532dup rs1553166026
NM_000310.4(PPT1):c.*529_*530insAGCA rs1553166029
NM_000310.4(PPT1):c.*529_*530insGTCA rs1553166030
NM_000310.4(PPT1):c.114del (p.Trp38fs) rs386833625
NM_000310.4(PPT1):c.124+2T>A rs1057517368
NM_000310.4(PPT1):c.125G>A (p.Gly42Glu) rs386833631
NM_000310.4(PPT1):c.169dup (p.Met57fs) rs386833634
NM_000310.4(PPT1):c.175_177del (p.Glu59del) rs1553167495
NM_000310.4(PPT1):c.184del (p.Ile62fs) rs1057517192
NM_000310.4(PPT1):c.18_21del (p.Leu7fs) rs1553167863
NM_000310.4(PPT1):c.249CTT[2] (p.Phe85del) rs386833637
NM_000310.4(PPT1):c.281_282del (p.Thr94fs) rs1553167479
NM_000310.4(PPT1):c.294_297dup (p.Ala100fs) rs1057517049
NM_000310.4(PPT1):c.29_41dup (p.Leu15fs) rs762226836
NM_000310.4(PPT1):c.327C>A (p.Tyr109Ter) rs1057516447
NM_000310.4(PPT1):c.338del (p.Gly113fs) rs1553167474
NM_000310.4(PPT1):c.362+1G>A rs1057517401
NM_000310.4(PPT1):c.363-2A>G rs1553167430
NM_000310.4(PPT1):c.398del (p.Met133fs) rs386833644
NM_000310.4(PPT1):c.433+1G>A rs1553167415
NM_000310.4(PPT1):c.455del (p.Cys152fs) rs886041568
NM_000310.4(PPT1):c.48_54del (p.Trp17fs) rs1057517112
NM_000310.4(PPT1):c.529C>T (p.Gln177Ter) rs386833650
NM_000310.4(PPT1):c.541G>T (p.Val181Leu) rs148412181
NM_000310.4(PPT1):c.627+1G>T rs1265044710
NM_000310.4(PPT1):c.653dup (p.Asn218fs) rs1057516889
NM_000310.4(PPT1):c.721del (p.Ser241fs) rs1553166499
NM_000310.4(PPT1):c.798+1G>T rs878853929
NM_000310.4(PPT1):c.798+2T>C rs1553166337
NM_000310.4(PPT1):c.799-2A>G rs1553166147
NM_000310.4(PPT1):c.821dup (p.Met274fs) rs1057516575
NM_000310.4(PPT1):c.835C>T (p.Gln279Ter) rs1553166135
NM_000310.4(PPT1):c.8C>A (p.Ser3Ter) rs747204624
NM_000391.4(TPP1):c.1042_1047del (p.Ala348_Ala349del) rs1554901785
NM_000391.4(TPP1):c.1048C>T (p.Arg350Trp) rs1554901784
NM_000391.4(TPP1):c.1076-1G>A rs1554901731
NM_000391.4(TPP1):c.1076-2A>G rs1424116749
NM_000391.4(TPP1):c.1076-2A>T rs1424116749
NM_000391.4(TPP1):c.1145+1G>A rs113019349
NM_000391.4(TPP1):c.1259C>A (p.Ser420Ter) rs1057516319
NM_000391.4(TPP1):c.1267-56_1267-37del rs1554901606
NM_000391.4(TPP1):c.1367_1368del (p.Leu455_Ser456insTer) rs1554901576
NM_000391.4(TPP1):c.1379G>A (p.Trp460Ter) rs786204753
NM_000391.4(TPP1):c.1392_1393del (p.Asn464fs) rs1407106889
NM_000391.4(TPP1):c.1449del (p.Ile484fs) rs1057516264
NM_000391.4(TPP1):c.1449dup (p.Ile484fs) rs1057516264
NM_000391.4(TPP1):c.1547_1548del (p.Leu515_Phe516insTer) rs763961289
NM_000391.4(TPP1):c.1551+1G>A rs786204553
NM_000391.4(TPP1):c.1551+1G>T rs786204553
NM_000391.4(TPP1):c.1611_1621del (p.Cys537fs) rs1554901463
NM_000391.4(TPP1):c.1661dup (p.Ala555fs) rs1057516579
NM_000391.4(TPP1):c.17+1G>A rs779615685
NM_000391.4(TPP1):c.184_185del (p.Ser62fs) rs1554902216
NM_000391.4(TPP1):c.230-1G>C rs1057516667
NM_000391.4(TPP1):c.311T>A (p.Leu104Ter) rs202189057
NM_000391.4(TPP1):c.357dup (p.Leu120fs) rs1554902085
NM_000391.4(TPP1):c.380G>A (p.Arg127Gln) rs121908204
NM_000391.4(TPP1):c.381-2A>G rs1554902052
NM_000391.4(TPP1):c.422dup (p.Tyr141Ter) rs1554902043
NM_000391.4(TPP1):c.457T>C (p.Ser153Pro) rs1554902028
NM_000391.4(TPP1):c.508+2dup rs1554902017
NM_000391.4(TPP1):c.509-1G>A rs56144125
NM_000391.4(TPP1):c.509-1G>T rs56144125
NM_000391.4(TPP1):c.605C>T (p.Pro202Leu) rs121908205
NM_000391.4(TPP1):c.609dup (p.Val204fs) rs1057516366
NM_000391.4(TPP1):c.640C>T (p.Gln214Ter) rs752164603
NM_000391.4(TPP1):c.687+2T>G rs1057516945
NM_000391.4(TPP1):c.731T>C (p.Met244Thr) rs1554901895
NM_000391.4(TPP1):c.819del (p.Ser274fs) rs1057517313
NM_000391.4(TPP1):c.833A>C (p.Gln278Pro) rs796053439
NM_000391.4(TPP1):c.857A>G (p.Asn286Ser) rs119455958
NM_000391.4(TPP1):c.938_939del (p.Asn313fs) rs886041487
NM_000391.4(TPP1):c.972_979del (p.Ser324fs) rs778232650
NM_001042432.2(CLN3):c.1000C>T (p.Arg334Cys) rs386833694
NM_001042432.2(CLN3):c.1059C>A (p.Cys353Ter) rs1057516677
NM_001042432.2(CLN3):c.1067dup (p.Val357fs) rs1555467473
NM_001042432.2(CLN3):c.1116C>G (p.Tyr372Ter) rs142456044
NM_001042432.2(CLN3):c.1195G>T (p.Glu399Ter) rs386833701
NM_001042432.2(CLN3):c.125+1del rs1555469452
NM_001042432.2(CLN3):c.195dup (p.Lys66fs) rs1555469159
NM_001042432.2(CLN3):c.223-1G>A rs1555469089
NM_001042432.2(CLN3):c.233dup (p.Thr80fs) rs386833712
NM_001042432.2(CLN3):c.281_282del (p.Ser94fs) rs1057517215
NM_001042432.2(CLN3):c.2T>C (p.Met1Thr) rs777625354
NM_001042432.2(CLN3):c.424del (p.Val142fs) rs386833720
NM_001042432.2(CLN3):c.46+1G>A rs1057516343
NM_001042432.2(CLN3):c.46+1G>C rs1057516343
NM_001042432.2(CLN3):c.461-279_677+384del rs1555468632
NM_001042432.2(CLN3):c.533+1G>C rs386833728
NM_001042432.2(CLN3):c.558_559del (p.Gly187fs) rs386833729
NM_001042432.2(CLN3):c.582G>T (p.Leu194=) rs386833734
NM_001042432.2(CLN3):c.597C>A (p.Tyr199Ter) rs267606737
NM_001042432.2(CLN3):c.677+1G>T rs1057517287
NM_001042432.2(CLN3):c.683dup (p.Leu230fs) rs1057516335
NM_001042432.2(CLN3):c.725AAG[2] (p.Glu244del) rs796052340
NM_001042432.2(CLN3):c.790+1del rs1555468374
NM_001042432.2(CLN3):c.791-1G>A rs1057517350
NM_001042432.2(CLN3):c.853A>G (p.Ile285Val) rs748844685
NM_001042432.2(CLN3):c.883G>T (p.Glu295Ter) rs121434286
NM_001042432.2(CLN3):c.944dup (p.His315fs) rs386833740
NM_001042432.2(CLN3):c.962+1G>A rs1057516267
NM_001042432.2(CLN3):c.963-2A>C rs1418997146
NM_001042432.2(CLN3):c.963-63_963-44dup rs1555468153
NM_006493.2(CLN5):c.1A>G (p.Met1Val) rs1268502139
NM_006493.4(CLN5):c.-7C>A rs1555273557
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.119del (p.Gly40fs) rs1555273609
NM_006493.4(CLN5):c.133_134del (p.Ser45fs) rs780198002
NM_006493.4(CLN5):c.155_167del (p.His52fs) rs1057517134
NM_006493.4(CLN5):c.18del (p.Asp6fs) rs1555273567
NM_006493.4(CLN5):c.191del (p.Pro64fs) rs1555273882
NM_006493.4(CLN5):c.33_50dup (p.Glu12_Ala17dup) rs1555273571
NM_006493.4(CLN5):c.340-1del rs1057516390
NM_006493.4(CLN5):c.377T>G (p.Leu126Ter) rs386833972
NM_006493.4(CLN5):c.438del (p.His148fs) rs1555273992
NM_006493.4(CLN5):c.47GCGCGG[3] (p.16GA[3]) rs1409904698
NM_006493.4(CLN5):c.525del (p.His174_Trp175insTer) rs587780315
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.665_672dup (p.Trp225fs) rs1555274337
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.73_74delinsG (p.Ser25fs) rs1057516814
NM_006493.4(CLN5):c.777_778del (p.Phe260fs) rs786204644
NM_006493.4(CLN5):c.77G>A (p.Trp26Ter) rs764790770
NM_006493.4(CLN5):c.78G>A (p.Trp26Ter) rs104894385
NM_006493.4(CLN5):c.793G>T (p.Glu265Ter) rs764495616
NM_006493.4(CLN5):c.838_841del (p.Gly280fs) rs1555274365
NM_006493.4(CLN5):c.84G>A (p.Trp28Ter) rs200348035
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.958C>T (p.Gln320Ter) rs750935331
NM_006493.4(CLN5):c.995del (p.Leu332fs) rs1555274387
NM_017882.3(CLN6):c.139C>T (p.Leu47Phe) rs154774635
NM_017882.3(CLN6):c.1A>G (p.Met1Val) rs1555440206
NM_017882.3(CLN6):c.214G>T (p.Glu72Ter) rs104894483
NM_017882.3(CLN6):c.349ATC[2] (p.Ile119del) rs886051447
NM_017882.3(CLN6):c.373A>G (p.Ser125Gly) rs772893554
NM_017882.3(CLN6):c.443T>A (p.Val148Asp) rs1555438678
NM_017882.3(CLN6):c.498dup (p.Glu167Ter) rs762902907
NM_017882.3(CLN6):c.506T>C (p.Leu169Pro) rs1344658850
NM_017882.3(CLN6):c.542+1G>T rs1555438614
NM_017882.3(CLN6):c.543G>A (p.Trp181Ter) rs1555438443
NM_017882.3(CLN6):c.665G>A (p.Trp222Ter) rs1555438411
NM_017882.3(CLN6):c.702C>A (p.Phe234Leu) rs1555438267
NM_017882.3(CLN6):c.766_770del (p.Asp256fs) rs1555438234
NM_017882.3(CLN6):c.775G>T (p.Gly259Cys) rs150363441
NM_017882.3(CLN6):c.786_787dup (p.Phe263fs) rs1555438229
NM_017882.3(CLN6):c.83+2T>G rs1555440188
NM_017882.3(CLN6):c.890del (p.Pro297fs) rs154774639
NM_017882.3(CLN6):c.909C>A (p.Tyr303Ter) rs1448520404
NM_018941.4(CLN8):c.-123-1G>C rs1554448791
NM_018941.4(CLN8):c.-131_-124+13del rs1554446821
NM_018941.4(CLN8):c.204del (p.Thr69fs) rs1554449028
NM_018941.4(CLN8):c.226C>T (p.Gln76Ter) rs1554449047
NM_018941.4(CLN8):c.263del (p.Asp88fs) rs1057516582
NM_018941.4(CLN8):c.2T>C (p.Met1Thr) rs1554448874
NM_018941.4(CLN8):c.306G>A (p.Trp102Ter) rs1554449124
NM_018941.4(CLN8):c.312G>A (p.Trp104Ter) rs1554449136
NM_018941.4(CLN8):c.398T>A (p.Leu133Ter) rs554042394
NM_018941.4(CLN8):c.47del (p.Leu16fs) rs1057516867
NM_018941.4(CLN8):c.507C>T (p.Ser169=) rs386834131
NM_018941.4(CLN8):c.50del (p.Asp17fs) rs1554448924
NM_018941.4(CLN8):c.544-2A>G rs1554451484
NM_018941.4(CLN8):c.562_563del (p.Leu188fs) rs386834132
NM_018941.4(CLN8):c.594del (p.His199fs) rs1554451504
NM_018941.4(CLN8):c.681T>A (p.Tyr227Ter) rs1554451561
NM_018941.4(CLN8):c.70C>G (p.Arg24Gly) rs104894064
NM_018941.4(CLN8):c.763C>T (p.Gln255Ter) rs746397087

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