ClinVar Miner

List of variants reported as pathogenic for neuronal ceroid lipofuscinosis 11

Included ClinVar conditions (2):
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ClinVar version:
Total variants: 64
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HGVS dbSNP gnomAD frequency
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
NC_000017.10:g.(?_42426434)_(42430018_?)del
NM_002087.3(GRN):c.1144dup (p.Thr382Asnfs) rs63749905
NM_002087.4(GRN):c.1009C>T (p.Gln337Ter) rs63751406
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.1166_1167del (p.Cys389fs)
NM_002087.4(GRN):c.1179+1G>C
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.1414-1G>T
NM_002087.4(GRN):c.1414-2A>G rs1555611412
NM_002087.4(GRN):c.1458C>A (p.Tyr486Ter)
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.657del (p.Thr220fs)
NM_002087.4(GRN):c.675_676del (p.Ser226fs) rs63751085
NM_002087.4(GRN):c.6G>A (p.Trp2Ter) rs1555610855
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.774dup (p.Lys259Ter)
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

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