ClinVar Miner

List of variants reported as likely pathogenic for Juvenile neuronal ceroid lipofuscinosis

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Total variants: 76
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HGVS dbSNP
NM_000086.2(CLN3):c.1000C>T (p.Arg334Cys) rs386833694
NM_000086.2(CLN3):c.1001G>A (p.Arg334His) rs386833695
NM_000086.2(CLN3):c.1048del (p.Leu350fs) rs386833696
NM_000086.2(CLN3):c.1054C>T (p.Gln352Ter) rs386833697
NM_000086.2(CLN3):c.1056+3A>C rs386833698
NM_000086.2(CLN3):c.1056G>C (p.Gln352His) rs386833699
NM_000086.2(CLN3):c.1059C>A (p.Cys353Ter) rs1057516677
NM_000086.2(CLN3):c.105G>A (p.Trp35Ter) rs386833700
NM_000086.2(CLN3):c.1067dup (p.Val357fs) rs1555467473
NM_000086.2(CLN3):c.1116C>G (p.Tyr372Ter) rs142456044
NM_000086.2(CLN3):c.1195G>T (p.Glu399Ter) rs386833701
NM_000086.2(CLN3):c.1198-1G>T rs386833702
NM_000086.2(CLN3):c.1247A>G (p.Asp416Gly) rs386833703
NM_000086.2(CLN3):c.125+1del rs1555469452
NM_000086.2(CLN3):c.125+5G>A rs386833704
NM_000086.2(CLN3):c.126-1G>A rs386833705
NM_000086.2(CLN3):c.1268C>A (p.Ser423Ter) rs386833706
NM_000086.2(CLN3):c.1272del (p.Leu425fs) rs386833707
NM_000086.2(CLN3):c.195dup (p.Lys66fs) rs1555469159
NM_000086.2(CLN3):c.1A>C (p.Met1Leu) rs386833708
NM_000086.2(CLN3):c.1A>G (p.Met1Val) rs386833708
NM_000086.2(CLN3):c.214C>T (p.Gln72Ter) rs386833709
NM_000086.2(CLN3):c.222+2T>G rs386833710
NM_000086.2(CLN3):c.222+5G>C rs386833711
NM_000086.2(CLN3):c.223-1G>A rs1555469089
NM_000086.2(CLN3):c.233dup (p.Thr80fs) rs386833712
NM_000086.2(CLN3):c.265C>T (p.Arg89Ter) rs386833713
NM_000086.2(CLN3):c.279_280CT[1] (p.Ser94fs) rs1057517215
NM_000086.2(CLN3):c.295-2A>C rs1478660606
NM_000086.2(CLN3):c.2T>C (p.Met1Thr) rs777625354
NM_000086.2(CLN3):c.302T>C (p.Leu101Pro) rs386833714
NM_000086.2(CLN3):c.370dup (p.Tyr124fs) rs386833715
NM_000086.2(CLN3):c.374G>A (p.Ser125Asn) rs386833716
NM_000086.2(CLN3):c.378_379dup (p.Arg127fs) rs386833717
NM_000086.2(CLN3):c.379del (p.Arg127fs) rs386833717
NM_000086.2(CLN3):c.400T>C (p.Cys134Arg) rs386833719
NM_000086.2(CLN3):c.424del (p.Val142fs) rs386833720
NM_000086.2(CLN3):c.46+1G>A rs1057516343
NM_000086.2(CLN3):c.46+1G>C rs1057516343
NM_000086.2(CLN3):c.461-13G>C rs386833721
NM_000086.2(CLN3):c.461-1G>A rs386833722
NM_000086.2(CLN3):c.461-1G>C rs386833722
NM_000086.2(CLN3):c.47-1G>A rs1555469477
NM_000086.2(CLN3):c.472G>C (p.Ala158Pro) rs386833723
NM_000086.2(CLN3):c.482C>G (p.Ser161Ter) rs386833724
NM_000086.2(CLN3):c.485C>G (p.Ser162Ter) rs386833725
NM_000086.2(CLN3):c.49G>T (p.Glu17Ter) rs386833726
NM_000086.2(CLN3):c.509T>C (p.Leu170Pro) rs386833727
NM_000086.2(CLN3):c.533+1G>A rs386833728
NM_000086.2(CLN3):c.533+1G>C rs386833728
NM_000086.2(CLN3):c.558_559del (p.Gly187fs) rs386833729
NM_000086.2(CLN3):c.560G>C (p.Gly187Ala) rs386833730
NM_000086.2(CLN3):c.565G>C (p.Gly189Arg) rs386833731
NM_000086.2(CLN3):c.569del (p.Gly190fs) rs386833732
NM_000086.2(CLN3):c.575G>A (p.Gly192Glu) rs386833733
NM_000086.2(CLN3):c.582G>T (p.Leu194=) rs386833734
NM_000086.2(CLN3):c.586dup (p.Ala196fs) rs386833735
NM_000086.2(CLN3):c.597C>A (p.Tyr199Ter) rs267606737
NM_000086.2(CLN3):c.622dup (p.Ser208fs) rs386833736
NM_000086.2(CLN3):c.631C>T (p.Gln211Ter) rs386833737
NM_000086.2(CLN3):c.677+1G>T rs1057517287
NM_000086.2(CLN3):c.683dup (p.Leu230fs) rs1057516335
NM_000086.2(CLN3):c.790+1del rs1555468374
NM_000086.2(CLN3):c.790+3A>C rs386833738
NM_000086.2(CLN3):c.791-1G>A rs1057517350
NM_000086.2(CLN3):c.883G>T (p.Glu295Ter) rs121434286
NM_000086.2(CLN3):c.906+2T>A rs771788391
NM_000086.2(CLN3):c.906+5G>A rs386833739
NM_000086.2(CLN3):c.944dup (p.His315fs) rs386833740
NM_000086.2(CLN3):c.954_962+18del rs386833741
NM_000086.2(CLN3):c.962+1G>A rs1057516267
NM_000086.2(CLN3):c.963-1G>A rs386833742
NM_000086.2(CLN3):c.963-1G>T rs386833742
NM_000086.2(CLN3):c.963-2A>C rs1418997146
NM_000086.2(CLN3):c.979C>T (p.Gln327Ter) rs386833743
NM_000086.2(CLN3):c.988G>T (p.Val330Phe) rs386833744

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