ClinVar Miner

List of variants studied for Ceroid lipofuscinosis neuronal 1

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Total variants: 144
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HGVS dbSNP
NC_000001.10:g.(?_40539713)_(40562930_?)dup
NC_000001.10:g.40558255_40562842del
NM_000310.3(PPT1):c.*526_*529del rs386833624
NM_000310.3(PPT1):c.*529_*530insAGCA rs1553166029
NM_000310.3(PPT1):c.*529_*530insATCG rs1475500814
NM_000310.3(PPT1):c.*529_*530insGTCA rs1553166030
NM_000310.3(PPT1):c.114G>A (p.Trp38Ter) rs386833626
NM_000310.3(PPT1):c.114G>T (p.Trp38Cys) rs386833626
NM_000310.3(PPT1):c.114del (p.Trp38fs) rs386833625
NM_000310.3(PPT1):c.117T>A (p.His39Gln) rs386833627
NM_000310.3(PPT1):c.124+1G>A rs386833628
NM_000310.3(PPT1):c.124+2T>A rs1057517368
NM_000310.3(PPT1):c.124+6T>C rs759641557
NM_000310.3(PPT1):c.125-15T>G rs386833629
NM_000310.3(PPT1):c.125-2A>G rs386833630
NM_000310.3(PPT1):c.125G>A (p.Gly42Glu) rs386833631
NM_000310.3(PPT1):c.133T>C (p.Cys45Arg) rs878853323
NM_000310.3(PPT1):c.147A>C (p.Leu49Phe) rs781048683
NM_000310.3(PPT1):c.163A>T (p.Lys55Ter) rs386833633
NM_000310.3(PPT1):c.175G>A (p.Glu59Lys) rs750533343
NM_000310.3(PPT1):c.17G>A (p.Cys6Tyr) rs202241486
NM_000310.3(PPT1):c.18_21del (p.Leu7fs) rs1553167863
NM_000310.3(PPT1):c.1A>G (p.Met1Val) rs1085307087
NM_000310.3(PPT1):c.223A>C (p.Thr75Pro) rs137852696
NM_000310.3(PPT1):c.225C>T (p.Thr75=) rs1477732757
NM_000310.3(PPT1):c.234+7C>T rs200777536
NM_000310.3(PPT1):c.235-3T>C rs386833636
NM_000310.3(PPT1):c.239T>G (p.Val80Gly)
NM_000310.3(PPT1):c.272A>C (p.Gln91Pro) rs386833639
NM_000310.3(PPT1):c.282A>G (p.Thr94=) rs753828114
NM_000310.3(PPT1):c.283G>A (p.Val95Met) rs932228782
NM_000310.3(PPT1):c.287G>A (p.Cys96Tyr) rs386833640
NM_000310.3(PPT1):c.29T>A (p.Leu10Ter) rs137852699
NM_000310.3(PPT1):c.29_41dup (p.Leu15fs) rs762226836
NM_000310.3(PPT1):c.2T>C (p.Met1Thr) rs796052927
NM_000310.3(PPT1):c.310A>G (p.Lys104Glu) rs386833641
NM_000310.3(PPT1):c.310A>T (p.Lys104Ter) rs386833641
NM_000310.3(PPT1):c.325T>G (p.Tyr109Asp) rs386833642
NM_000310.3(PPT1):c.327C>A (p.Tyr109Ter) rs1057516447
NM_000310.3(PPT1):c.329A>G (p.Asn110Ser) rs142894102
NM_000310.3(PPT1):c.362+1G>A rs1057517401
NM_000310.3(PPT1):c.362+4C>T rs534592472
NM_000310.3(PPT1):c.363-2A>G rs1553167430
NM_000310.3(PPT1):c.363-3T>G rs386833643
NM_000310.3(PPT1):c.363-4G>A rs117284255
NM_000310.3(PPT1):c.363G>T (p.Leu121=)
NM_000310.3(PPT1):c.364A>T (p.Arg122Trp) rs137852695
NM_000310.3(PPT1):c.38C>G (p.Ala13Gly) rs1057515557
NM_000310.3(PPT1):c.3G>A (p.Met1Ile) rs386833645
NM_000310.3(PPT1):c.413C>T (p.Ser138Leu) rs386833646
NM_000310.3(PPT1):c.424C>T (p.Gln142Ter) rs796052925
NM_000310.3(PPT1):c.426A>G (p.Gln142=) rs759480265
NM_000310.3(PPT1):c.433+1G>A rs1553167415
NM_000310.3(PPT1):c.433+5C>A
NM_000310.3(PPT1):c.445C>A (p.Leu149Ile) rs775899980
NM_000310.3(PPT1):c.451C>T (p.Arg151Ter) rs137852700
NM_000310.3(PPT1):c.455G>A (p.Cys152Tyr) rs386833647
NM_000310.3(PPT1):c.455del (p.Cys152fs) rs886041568
NM_000310.3(PPT1):c.456C>A (p.Cys152Ter) rs386833648
NM_000310.3(PPT1):c.48_54del (p.Trp17fs) rs1057517112
NM_000310.3(PPT1):c.509G>A (p.Gly170Glu) rs1553167257
NM_000310.3(PPT1):c.529C>G (p.Gln177Glu) rs386833650
NM_000310.3(PPT1):c.529C>T (p.Gln177Ter) rs386833650
NM_000310.3(PPT1):c.532delG (p.Glu178Asnfs) rs878853325
NM_000310.3(PPT1):c.535C>T (p.Arg179Cys) rs560471003
NM_000310.3(PPT1):c.536+1G>A rs386833651
NM_000310.3(PPT1):c.536+2T>C rs386833652
NM_000310.3(PPT1):c.536+5G>T rs1208757133
NM_000310.3(PPT1):c.536G>A (p.Arg179His) rs370069880
NM_000310.3(PPT1):c.538dup (p.Leu180fs) rs386833653
NM_000310.3(PPT1):c.541G>A (p.Val181Met) rs148412181
NM_000310.3(PPT1):c.541G>T (p.Val181Leu) rs148412181
NM_000310.3(PPT1):c.544C>T (p.Gln182Ter) rs386833654
NM_000310.3(PPT1):c.550G>A (p.Glu184Lys) rs386833655
NM_000310.3(PPT1):c.558G>A (p.Trp186Ter) rs386833656
NM_000310.3(PPT1):c.560A>G (p.His187Arg) rs386833657
NM_000310.3(PPT1):c.566C>G (p.Pro189Arg) rs386833658
NM_000310.3(PPT1):c.572A>C (p.Lys191Thr) rs1557708208
NM_000310.3(PPT1):c.574G>A (p.Glu192Lys) rs1557708202
NM_000310.3(PPT1):c.586C>T (p.Arg196Cys) rs376715840
NM_000310.3(PPT1):c.587G>A (p.Arg196His) rs939858453
NM_000310.3(PPT1):c.59C>T (p.Ala20Val) rs1187613034
NM_000310.3(PPT1):c.627+1G>T rs1265044710
NM_000310.3(PPT1):c.628-1G>T rs386833659
NM_000310.3(PPT1):c.628G>C (p.Gly210Arg) rs200434104
NM_000310.3(PPT1):c.629_630dup (p.Ile211fs)
NM_000310.3(PPT1):c.644del (p.Tyr215fs) rs386833660
NM_000310.3(PPT1):c.646A>G (p.Lys216Glu) rs766163400
NM_000310.3(PPT1):c.651A>G (p.Lys217=) rs1553166517
NM_000310.3(PPT1):c.653dup (p.Asn218fs) rs1057516889
NM_000310.3(PPT1):c.656T>A (p.Leu219Gln) rs137852698
NM_000310.3(PPT1):c.665T>C (p.Leu222Pro) rs386833661
NM_000310.3(PPT1):c.674T>C (p.Phe225Ser) rs386833662
NM_000310.3(PPT1):c.676G>A (p.Val226Met) rs375190067
NM_000310.3(PPT1):c.683T>G (p.Val228Gly) rs386833663
NM_000310.3(PPT1):c.707T>A (p.Val236Glu) rs878853324
NM_000310.3(PPT1):c.713C>T (p.Pro238Leu) rs878853322
NM_000310.3(PPT1):c.71T>C (p.Leu24Pro) rs746667989
NM_000310.3(PPT1):c.721del (p.Ser241fs) rs1553166499
NM_000310.3(PPT1):c.722C>T (p.Ser241Leu) rs746043871
NM_000310.3(PPT1):c.727-2A>T rs386833664
NM_000310.3(PPT1):c.739T>C (p.Tyr247His) rs386833665
NM_000310.3(PPT1):c.749G>T (p.Gly250Val) rs386833666
NM_000310.3(PPT1):c.769C>A (p.Pro257Thr) rs201313087
NM_000310.3(PPT1):c.798+1G>T rs878853929
NM_000310.3(PPT1):c.798+2T>C rs1553166337
NM_000310.3(PPT1):c.799-2A>G rs1553166147
NM_000310.3(PPT1):c.802C>T (p.Arg268Cys) rs200813294
NM_000310.3(PPT1):c.817G>A (p.Glu273Lys) rs1193191643
NM_000310.3(PPT1):c.821dup (p.Met274fs) rs1057516575
NM_000310.3(PPT1):c.835C>T (p.Gln279Ter) rs1553166135
NM_000310.3(PPT1):c.856G>A (p.Glu286Lys)
NM_000310.3(PPT1):c.871C>T (p.Gln291Ter) rs386833668
NM_000310.3(PPT1):c.875T>C (p.Leu292Ser) rs199708990
NM_000310.3(PPT1):c.886T>C (p.Trp296Arg) rs386833669
NM_000310.3(PPT1):c.888G>A (p.Trp296Ter) rs386833670
NM_000310.3(PPT1):c.8C>A (p.Ser3Ter) rs747204624
NM_000310.3(PPT1):c.904A>G (p.Ile302Val) rs146902902
NM_000310.3(PPT1):c.914T>C (p.Leu305Pro) rs386833671
NM_000310.3(PPT1):c.914T>G (p.Leu305Arg) rs386833671
NM_000310.4(PPT1):c.271_287delinsTT (p.Gln91_Cys96delinsPhe) rs386833638
NM_000310.4(PPT1):c.471del (p.His158fs)
NM_000310.4(PPT1):c.6del (p.Ser3fs)
NM_001142604.2(PPT1):c.*521_*532dup rs1553166026
NM_001142604.2(PPT1):c.125-1852del rs386833644
NM_001142604.2(PPT1):c.125-2557del rs1553167474
NM_001142604.2(PPT1):c.125-2560_125-2559del
NM_001142604.2(PPT1):c.125-2573G>C rs137852701
NM_001142604.2(PPT1):c.125-2601_125-2598dup rs1057517049
NM_001142604.2(PPT1):c.125-2614_125-2613del rs1553167479
NM_001142604.2(PPT1):c.125-2646CTT[2] rs386833637
NM_001142604.2(PPT1):c.125-2659A>G rs137852697
NM_001142604.2(PPT1):c.125-2936del rs1057517192
NM_001142604.2(PPT1):c.125-2945_125-2943del rs1553167495
NM_001142604.2(PPT1):c.125-2945del rs386833635
NM_001142604.2(PPT1):c.125-2957dup rs386833634
NM_001142604.2(PPT1):c.125-2974T>G rs1557714302
NM_001142604.2(PPT1):c.125-2985_125-2983dup rs386833632
NM_001142604.2(PPT1):c.125-2986G>A rs137852702
NM_001142604.2(PPT1):c.181C>T (p.Arg61Ter) rs386833649
NM_001363695.2(PPT1):c.726+1694dup rs386833667
NM_001363695.2(PPT1):c.726+1696dup rs1349528345
PPT1, 1-BP INS, 169A
PPT1, 451C-T

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