ClinVar Miner

List of variants reported as likely pathogenic for neuronal ceroid lipofuscinosis 3

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 132
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HGVS dbSNP gnomAD frequency
NM_001042432.2(CLN3):c.988G>A (p.Val330Ile) rs386833744 0.00004
NM_001042432.2(CLN3):c.295-2A>C rs1478660606 0.00003
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_001042432.2(CLN3):c.175G>A (p.Ala59Thr) rs765893479 0.00002
NM_001042432.2(CLN3):c.1198-1G>T rs386833702 0.00001
NM_001042432.2(CLN3):c.1247A>G (p.Asp416Gly) rs386833703 0.00001
NM_001042432.2(CLN3):c.125+5G>A rs386833704 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.214C>T (p.Gln72Ter) rs386833709 0.00001
NM_001042432.2(CLN3):c.461-1G>T rs386833722 0.00001
NM_001042432.2(CLN3):c.47-1G>A rs1555469477 0.00001
NM_001042432.2(CLN3):c.472G>C (p.Ala158Pro) rs386833723 0.00001
NM_001042432.2(CLN3):c.622dup (p.Ser208fs) rs386833736 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.949C>T (p.Gln317Ter) rs796052335 0.00001
NM_001042432.2(CLN3):c.963-1G>A rs386833742 0.00001
NM_000391.4(TPP1):c.1678_1679del (p.Leu560fs) rs759664259
NM_001042432.2(CLN3):c.1000C>T (p.Arg334Cys) rs386833694
NM_001042432.2(CLN3):c.1038G>A (p.Trp346Ter)
NM_001042432.2(CLN3):c.1048del (p.Leu350fs) rs386833696
NM_001042432.2(CLN3):c.1055dup (p.Cys353fs)
NM_001042432.2(CLN3):c.1056+3A>C rs386833698
NM_001042432.2(CLN3):c.1056G>C (p.Gln352His) rs386833699
NM_001042432.2(CLN3):c.1059C>A (p.Cys353Ter) rs1057516677
NM_001042432.2(CLN3):c.105G>A (p.Trp35Ter) rs386833700
NM_001042432.2(CLN3):c.1067dup (p.Val357fs) rs1555467473
NM_001042432.2(CLN3):c.1075del (p.Leu359fs) rs2046023126
NM_001042432.2(CLN3):c.1115_1118dup (p.Val374fs)
NM_001042432.2(CLN3):c.1116C>G (p.Tyr372Ter) rs142456044
NM_001042432.2(CLN3):c.1127del (p.Leu376fs) rs2046022108
NM_001042432.2(CLN3):c.1195G>T (p.Glu399Ter) rs386833701
NM_001042432.2(CLN3):c.1197+1G>A
NM_001042432.2(CLN3):c.125+1del rs1555469452
NM_001042432.2(CLN3):c.125+2T>C
NM_001042432.2(CLN3):c.126-1G>A rs386833705
NM_001042432.2(CLN3):c.1268C>A (p.Ser423Ter) rs386833706
NM_001042432.2(CLN3):c.126G>A (p.Trp42Ter)
NM_001042432.2(CLN3):c.1272del (p.Leu425fs) rs386833707
NM_001042432.2(CLN3):c.181_183del (p.Asp61del)
NM_001042432.2(CLN3):c.18del (p.Ser7fs)
NM_001042432.2(CLN3):c.195dup (p.Lys66fs) rs1555469159
NM_001042432.2(CLN3):c.196_197del (p.Lys66fs)
NM_001042432.2(CLN3):c.1A>C (p.Met1Leu) rs386833708
NM_001042432.2(CLN3):c.222+2T>G rs386833710
NM_001042432.2(CLN3):c.222+5G>C rs386833711
NM_001042432.2(CLN3):c.223-1G>A rs1555469089
NM_001042432.2(CLN3):c.233dup (p.Thr80fs) rs386833712
NM_001042432.2(CLN3):c.250del (p.His84fs)
NM_001042432.2(CLN3):c.265C>T (p.Arg89Ter) rs386833713
NM_001042432.2(CLN3):c.276C>A (p.Cys92Ter)
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.302T>C (p.Leu101Pro) rs386833714
NM_001042432.2(CLN3):c.363dup (p.Leu122fs)
NM_001042432.2(CLN3):c.370dup (p.Tyr124fs) rs386833715
NM_001042432.2(CLN3):c.372C>G (p.Tyr124Ter)
NM_001042432.2(CLN3):c.374G>A (p.Ser125Asn) rs386833716
NM_001042432.2(CLN3):c.375-2del
NM_001042432.2(CLN3):c.378_379dup (p.Arg127fs) rs386833717
NM_001042432.2(CLN3):c.379del (p.Arg127fs) rs386833717
NM_001042432.2(CLN3):c.379dup (p.Arg127fs)
NM_001042432.2(CLN3):c.400T>C (p.Cys134Arg) rs386833719
NM_001042432.2(CLN3):c.419del (p.Val140fs)
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.461-13G>C rs386833721
NM_001042432.2(CLN3):c.461-1G>A rs386833722
NM_001042432.2(CLN3):c.461-1G>C rs386833722
NM_001042432.2(CLN3):c.461-3C>G rs181995380
NM_001042432.2(CLN3):c.461dup
NM_001042432.2(CLN3):c.467del (p.Val156fs)
NM_001042432.2(CLN3):c.47-2del
NM_001042432.2(CLN3):c.482C>G (p.Ser161Ter) rs386833724
NM_001042432.2(CLN3):c.485C>G (p.Ser162Ter) rs386833725
NM_001042432.2(CLN3):c.49G>T (p.Glu17Ter) rs386833726
NM_001042432.2(CLN3):c.500T>A (p.Val167Asp) rs1418465028
NM_001042432.2(CLN3):c.509T>C (p.Leu170Pro) rs386833727
NM_001042432.2(CLN3):c.512C>T (p.Ser171Phe) rs1401497994
NM_001042432.2(CLN3):c.528C>A (p.Tyr176Ter)
NM_001042432.2(CLN3):c.533+1G>A rs386833728
NM_001042432.2(CLN3):c.533+1G>C rs386833728
NM_001042432.2(CLN3):c.534-1G>C
NM_001042432.2(CLN3):c.534-2A>G rs2046221354
NM_001042432.2(CLN3):c.551G>A (p.Trp184Ter)
NM_001042432.2(CLN3):c.552G>A (p.Trp184Ter)
NM_001042432.2(CLN3):c.555del (p.Ser186fs)
NM_001042432.2(CLN3):c.558_559del (p.Gly187fs) rs386833729
NM_001042432.2(CLN3):c.560G>C (p.Gly187Ala) rs386833730
NM_001042432.2(CLN3):c.565G>A (p.Gly189Arg) rs386833731
NM_001042432.2(CLN3):c.565G>C (p.Gly189Arg) rs386833731
NM_001042432.2(CLN3):c.569del (p.Gly190fs) rs386833732
NM_001042432.2(CLN3):c.575G>A (p.Gly192Glu) rs386833733
NM_001042432.2(CLN3):c.582G>T (p.Leu194=) rs386833734
NM_001042432.2(CLN3):c.586dup (p.Ala196fs) rs386833735
NM_001042432.2(CLN3):c.597C>A (p.Tyr199Ter) rs267606737
NM_001042432.2(CLN3):c.610C>T (p.Gln204Ter)
NM_001042432.2(CLN3):c.631C>T (p.Gln211Ter) rs386833737
NM_001042432.2(CLN3):c.639del (p.Leu214fs) rs2046218391
NM_001042432.2(CLN3):c.677+1G>A
NM_001042432.2(CLN3):c.677+1G>T rs1057517287
NM_001042432.2(CLN3):c.678-1_680del
NM_001042432.2(CLN3):c.683dup (p.Leu230fs) rs1057516335
NM_001042432.2(CLN3):c.729del (p.Glu244fs)
NM_001042432.2(CLN3):c.751C>T (p.Gln251Ter) rs2046158549
NM_001042432.2(CLN3):c.790+1G>A
NM_001042432.2(CLN3):c.790+1del rs1555468374
NM_001042432.2(CLN3):c.790+3A>C rs386833738
NM_001042432.2(CLN3):c.791-1G>A rs1057517350
NM_001042432.2(CLN3):c.838-3C>G
NM_001042432.2(CLN3):c.849G>A (p.Trp283Ter)
NM_001042432.2(CLN3):c.849del (p.Trp283fs)
NM_001042432.2(CLN3):c.852C>G (p.Tyr284Ter)
NM_001042432.2(CLN3):c.868G>T (p.Val290Leu) rs369008702
NM_001042432.2(CLN3):c.883G>T (p.Glu295Ter) rs121434286
NM_001042432.2(CLN3):c.906+5G>A rs386833739
NM_001042432.2(CLN3):c.910G>T (p.Glu304Ter)
NM_001042432.2(CLN3):c.936_937del (p.Leu313fs)
NM_001042432.2(CLN3):c.937del (p.Ser312_Leu313insTer)
NM_001042432.2(CLN3):c.944_945insGA (p.His315fs)
NM_001042432.2(CLN3):c.944dup (p.His315fs) rs386833740
NM_001042432.2(CLN3):c.954_962+18del rs386833741
NM_001042432.2(CLN3):c.962+1G>A rs1057516267
NM_001042432.2(CLN3):c.962G>A (p.Trp321Ter) rs2046112247
NM_001042432.2(CLN3):c.963-1G>T rs386833742
NM_001042432.2(CLN3):c.963-2A>C rs1418997146
NM_001042432.2(CLN3):c.979C>T (p.Gln327Ter) rs386833743
NM_001042432.2(CLN3):c.988G>T (p.Val330Phe) rs386833744
NM_001042432.2(CLN3):c.992_993del (p.Phe331fs) rs2046109345

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