ClinVar Miner

List of variants reported as pathogenic for adult neuronal ceroid lipofuscinosis

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 115
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HGVS dbSNP gnomAD frequency
NM_017882.3(CLN6):c.486+8C>T rs149692285 0.01339
NM_003793.4(CTSF):c.692A>G (p.Tyr231Cys) rs143889283 0.00008
NM_001909.5(CTSD):c.685T>A (p.Phe229Ile) rs121912789 0.00006
NM_001909.5(CTSD):c.470C>T (p.Ser157Leu) rs587779409 0.00004
NM_017882.3(CLN6):c.755G>A (p.Arg252His) rs374681194 0.00004
NM_000543.5(SMPD1):c.739G>A (p.Gly247Ser) rs587779408 0.00003
NM_003793.4(CTSF):c.954del (p.Ser319fs) rs753084727 0.00003
NM_017882.3(CLN6):c.662A>C (p.Tyr221Ser) rs764571295 0.00003
NM_017882.3(CLN6):c.308G>A (p.Arg103Gln) rs154774634 0.00002
NM_017882.3(CLN6):c.775G>A (p.Gly259Ser) rs150363441 0.00002
NM_002087.4(GRN):c.1010_1011del (p.Gln337fs) rs1598364961 0.00001
NM_002087.4(GRN):c.1145del (p.Thr382fs) rs63750805 0.00001
NM_002087.4(GRN):c.1477C>T (p.Arg493Ter) rs63751294 0.00001
NM_002087.4(GRN):c.2T>C (p.Met1Thr) rs63751006 0.00001
NM_002087.4(GRN):c.708+1G>A rs63749817 0.00001
NM_017882.3(CLN6):c.296A>G (p.Lys99Arg) rs146782642 0.00001
NM_017882.3(CLN6):c.307C>T (p.Arg103Trp) rs201095412 0.00001
NM_017882.3(CLN6):c.350T>G (p.Ile117Ser) rs752212030 0.00001
NM_017882.3(CLN6):c.679G>A (p.Glu227Lys) rs746753722 0.00001
NM_017882.3(CLN6):c.83G>A (p.Arg28Lys) rs1381427322 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
NC_000015.9:g.68504037_68504039delGAT rs121908080
NC_000017.10:g.(?_42426434)_(42430018_?)del
NM_001909.4:c.486-12G>A
NM_001909.5(CTSD):c.1149G>C (p.Trp383Cys) rs121912790
NM_001909.5(CTSD):c.1196G>A (p.Arg399His) rs797045138
NM_001909.5(CTSD):c.17_30dup (p.Leu11fs) rs2133668728
NM_001909.5(CTSD):c.446G>T (p.Gly149Val) rs797045137
NM_001909.5(CTSD):c.764dup (p.Tyr255Ter) rs786205105
NM_002087.3(GRN):c.1144dup (p.Thr382Asnfs) rs63749905
NM_002087.4(GRN):c.102del (p.Gly35fs) rs63751073
NM_002087.4(GRN):c.1072C>T (p.Gln358Ter) rs1555611293
NM_002087.4(GRN):c.1153del (p.Glu385fs) rs2143342203
NM_002087.4(GRN):c.1158G>A (p.Trp386Ter)
NM_002087.4(GRN):c.1179+3A>G
NM_002087.4(GRN):c.118_121dup (p.Cys41Ter)
NM_002087.4(GRN):c.1216C>T (p.Gln406Ter) rs2143344360
NM_002087.4(GRN):c.1227del (p.Cys410fs)
NM_002087.4(GRN):c.1252C>T (p.Arg418Ter) rs63751180
NM_002087.4(GRN):c.128_129insCC (p.Pro44fs)
NM_002087.4(GRN):c.1317_1318del (p.Asp441fs)
NM_002087.4(GRN):c.138+1G>A rs63749844
NM_002087.4(GRN):c.1414-2A>G rs1555611412
NM_002087.4(GRN):c.1492_1495del (p.Glu498fs)
NM_002087.4(GRN):c.180dup (p.Cys61fs)
NM_002087.4(GRN):c.1A>G (p.Met1Val) rs746037872
NM_002087.4(GRN):c.234_235del (p.Gly79fs) rs63750373
NM_002087.4(GRN):c.264+1del
NM_002087.4(GRN):c.265-2del
NM_002087.4(GRN):c.26C>A (p.Ala9Asp) rs63751243
NM_002087.4(GRN):c.295_308del (p.Cys99fs)
NM_002087.4(GRN):c.299del (p.Pro100fs) rs2048353899
NM_002087.4(GRN):c.328C>T (p.Arg110Ter) rs63750411
NM_002087.4(GRN):c.349+1G>C rs1598363083
NM_002087.4(GRN):c.383_386del (p.Asp128fs) rs2048359069
NM_002087.4(GRN):c.388C>T (p.Gln130Ter)
NM_002087.4(GRN):c.388_391del (p.Gln130fs) rs63749801
NM_002087.4(GRN):c.39dup (p.Leu14fs) rs2143325096
NM_002087.4(GRN):c.468_474del (p.Cys157fs) rs63750247
NM_002087.4(GRN):c.472_496dup (p.Pro166delinsLeuTer)
NM_002087.4(GRN):c.592_593del (p.Arg198fs) rs1555611136
NM_002087.4(GRN):c.5G>A (p.Trp2Ter)
NM_002087.4(GRN):c.614C>A (p.Ser205Ter) rs777211749
NM_002087.4(GRN):c.675_676del (p.Ser226fs) rs63751085
NM_002087.4(GRN):c.708+1G>C rs63749817
NM_002087.4(GRN):c.708+6_708+9del rs778599933
NM_002087.4(GRN):c.709-2A>G rs63750548
NM_002087.4(GRN):c.711del (p.Thr238fs)
NM_002087.4(GRN):c.768_769dup (p.Gln257fs) rs1567887004
NM_002087.4(GRN):c.775_778del (p.Lys259fs) rs2143337849
NM_002087.4(GRN):c.784_787del (p.Ser262fs)
NM_002087.4(GRN):c.80dup (p.Val28fs) rs1392550887
NM_002087.4(GRN):c.813_816del (p.Thr272fs) rs63749877
NM_002087.4(GRN):c.836-1G>C rs63751296
NM_002087.4(GRN):c.87dup (p.Cys30fs) rs794729672
NM_002087.4(GRN):c.898C>T (p.Gln300Ter) rs1555611253
NM_002087.4(GRN):c.910_911dup (p.Trp304fs)
NM_002087.4(GRN):c.911G>A (p.Trp304Ter) rs63751177
NM_002087.4(GRN):c.991C>T (p.Gln331Ter) rs1567887496
NM_003793.4(CTSF):c.1247T>C (p.Ile416Thr) rs1565311875
NM_003793.4(CTSF):c.1373G>C (p.Gly458Ala) rs397514732
NM_003793.4(CTSF):c.1439C>T (p.Ser480Leu) rs397514733
NM_003793.4(CTSF):c.213+1G>C rs797045136
NM_003793.4(CTSF):c.594T>A (p.Tyr198Ter) rs758004789
NM_003793.4(CTSF):c.664C>T (p.Gln222Ter)
NM_003793.4(CTSF):c.843_844del (p.Ala282fs) rs1555058286
NM_003793.4(CTSF):c.962A>G (p.Gln321Arg) rs397514731
NM_003793.4(CTSF):c.992del (p.Lys331fs)
NM_017882.2(CLN6):c.[460_462delATC];[829_837delGTCGCCTGG]
NM_017882.3(CLN6):c.139C>T (p.Leu47Phe) rs154774635
NM_017882.3(CLN6):c.17G>C (p.Arg6Thr) rs154774636
NM_017882.3(CLN6):c.185G>A (p.Arg62His) rs751486476
NM_017882.3(CLN6):c.200T>C (p.Leu67Pro) rs154774633
NM_017882.3(CLN6):c.214G>T (p.Glu72Ter) rs104894483
NM_017882.3(CLN6):c.218_220dup (p.Trp73dup) rs2141141533
NM_017882.3(CLN6):c.250T>A (p.Tyr84Asn) rs1567096598
NM_017882.3(CLN6):c.268_271dup (p.Val91fs) rs786205067
NM_017882.3(CLN6):c.278C>A (p.Thr93Lys)
NM_017882.3(CLN6):c.316dup (p.Arg106fs) rs397515352
NM_017882.3(CLN6):c.368G>A (p.Gly123Asp) rs104894484
NM_017882.3(CLN6):c.395_396del (p.Ser132fs) rs774543080
NM_017882.3(CLN6):c.406C>T (p.Arg136Cys) rs1012449574
NM_017882.3(CLN6):c.476C>T (p.Pro159Leu) rs919850756
NM_017882.3(CLN6):c.511TAT[1] (p.Tyr172del) rs121908079
NM_017882.3(CLN6):c.542+5G>T rs786205066
NM_017882.3(CLN6):c.552dup (p.Phe185fs) rs1567095153
NM_017882.3(CLN6):c.663C>G (p.Tyr221Ter) rs104894486
NM_017882.3(CLN6):c.723G>T (p.Met241Ile) rs149262877
NM_017882.3(CLN6):c.791CCT[1] (p.Ser265del) rs768422260
NM_017882.3(CLN6):c.7del (p.Ala3fs) rs786205065
NM_025219.3(DNAJC5):c.343CTC[1] (p.Leu116del) rs587776892
NM_025219.3(DNAJC5):c.344T>G (p.Leu115Arg) rs387907043
NM_025219.3(DNAJC5):c.347T>G (p.Leu116Arg) rs2146308296
NM_025219.3(DNAJC5):c.370_399dup (p.Cys124_Cys133dup) rs1600887859

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