ClinVar Miner

List of variants in gene PPT1 reported as uncertain significance for Neuronal ceroid lipofuscinosis 1

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Gene type:
ClinVar version:
Total variants: 202
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HGVS dbSNP gnomAD frequency
NM_000310.4(PPT1):c.*3C>A rs150454815 0.00889
NM_000310.4(PPT1):c.*708A>C rs368715899 0.00355
NM_000310.4(PPT1):c.*679C>A rs560639610 0.00301
NM_000310.4(PPT1):c.*484C>T rs570163737 0.00155
NM_000310.4(PPT1):c.904A>G (p.Ile302Val) rs146902902 0.00091
NM_000310.4(PPT1):c.*914A>G rs1005345754 0.00070
NM_000310.4(PPT1):c.*583G>A rs767942985 0.00064
NM_000310.4(PPT1):c.*388G>C rs56067238 0.00061
NM_000310.4(PPT1):c.*1295G>C rs180769534 0.00058
NM_000310.4(PPT1):c.*568A>G rs541526824 0.00052
NM_000310.3(PPT1):c.-158C>T rs747705034 0.00037
NM_000310.4(PPT1):c.*1019C>T rs1057515445 0.00012
NM_000310.4(PPT1):c.329A>G (p.Asn110Ser) rs142894102 0.00010
NM_000310.4(PPT1):c.*470T>C rs979602950 0.00008
NM_000310.4(PPT1):c.802C>T (p.Arg268Cys) rs200813294 0.00008
NM_000310.4(PPT1):c.*811A>G rs544749186 0.00007
NM_000310.4(PPT1):c.234+6G>A rs587781122 0.00007
NM_000310.4(PPT1):c.*340T>G rs1012813914 0.00006
NM_000310.4(PPT1):c.*6G>A rs113082671 0.00006
NM_000310.4(PPT1):c.*781A>T rs1057515517 0.00006
NM_000310.4(PPT1):c.*802C>T rs983979078 0.00006
NM_000310.4(PPT1):c.175G>A (p.Glu59Lys) rs750533343 0.00006
NM_000310.4(PPT1):c.17G>A (p.Cys6Tyr) rs202241486 0.00006
NM_000310.4(PPT1):c.*701G>A rs997860980 0.00005
NM_000310.4(PPT1):c.*727A>C rs764870558 0.00005
NM_000310.4(PPT1):c.362+4C>T rs534592472 0.00005
NM_000310.4(PPT1):c.413C>T (p.Ser138Leu) rs386833646 0.00005
NM_000310.4(PPT1):c.856G>A (p.Glu286Lys) rs141405110 0.00005
NM_000310.4(PPT1):c.*991T>C rs149722250 0.00004
NM_000310.4(PPT1):c.234+7C>T rs200777536 0.00004
NM_000310.4(PPT1):c.535C>T (p.Arg179Cys) rs560471003 0.00004
NM_000310.4(PPT1):c.586C>T (p.Arg196Cys) rs376715840 0.00004
NM_000310.4(PPT1):c.62C>T (p.Ser21Phe) rs796052922 0.00004
NM_000310.4(PPT1):c.-10C>T rs761610817 0.00003
NM_000310.4(PPT1):c.199G>A (p.Val67Ile) rs149945902 0.00003
NM_000310.4(PPT1):c.282A>G (p.Thr94=) rs753828114 0.00003
NM_000310.4(PPT1):c.310A>G (p.Lys104Glu) rs386833641 0.00003
NM_000310.4(PPT1):c.363G>T (p.Leu121=) rs201820661 0.00003
NM_000310.4(PPT1):c.587G>A (p.Arg196His) rs939858453 0.00003
NM_000310.4(PPT1):c.676G>A (p.Val226Met) rs375190067 0.00003
NM_000310.4(PPT1):c.762A>C (p.Glu254Asp) rs146002450 0.00003
NM_000310.4(PPT1):c.803G>A (p.Arg268His) rs763536047 0.00003
NM_000310.4(PPT1):c.*910C>T rs1057515446 0.00002
NM_000310.4(PPT1):c.14G>C (p.Gly5Ala) rs757580857 0.00002
NM_000310.4(PPT1):c.287G>A (p.Cys96Tyr) rs386833640 0.00002
NM_000310.4(PPT1):c.416T>C (p.Val139Ala) rs766961054 0.00002
NM_000310.4(PPT1):c.537-12T>C rs1057515556 0.00002
NM_000310.4(PPT1):c.628G>C (p.Gly210Arg) rs200434104 0.00002
NM_000310.4(PPT1):c.875T>C (p.Leu292Ser) rs199708990 0.00002
NM_000310.4(PPT1):c.*1062G>A rs564499024 0.00001
NM_000310.4(PPT1):c.*353C>T rs1016587844 0.00001
NM_000310.4(PPT1):c.*529_*530insATCG rs1475500814 0.00001
NM_000310.4(PPT1):c.*90C>G rs746784832 0.00001
NM_000310.4(PPT1):c.10C>T (p.Pro4Ser) rs539194943 0.00001
NM_000310.4(PPT1):c.12C>T (p.Pro4=) rs140289866 0.00001
NM_000310.4(PPT1):c.238G>A (p.Val80Met) rs370396045 0.00001
NM_000310.4(PPT1):c.272A>C (p.Gln91Pro) rs386833639 0.00001
NM_000310.4(PPT1):c.283G>A (p.Val95Met) rs932228782 0.00001
NM_000310.4(PPT1):c.293C>A (p.Ala98Glu) rs768065632 0.00001
NM_000310.4(PPT1):c.334A>T (p.Met112Leu) rs760532726 0.00001
NM_000310.4(PPT1):c.367G>A (p.Ala123Thr) rs755565099 0.00001
NM_000310.4(PPT1):c.38C>G (p.Ala13Gly) rs1057515557 0.00001
NM_000310.4(PPT1):c.40C>T (p.Leu14Phe) rs550492793 0.00001
NM_000310.4(PPT1):c.433G>C (p.Gly145Arg) rs369186379 0.00001
NM_000310.4(PPT1):c.440T>C (p.Phe147Ser) rs760784114 0.00001
NM_000310.4(PPT1):c.445C>A (p.Leu149Ile) rs775899980 0.00001
NM_000310.4(PPT1):c.452G>A (p.Arg151Gln) rs779343776 0.00001
NM_000310.4(PPT1):c.472C>T (p.His158Tyr) rs754525635 0.00001
NM_000310.4(PPT1):c.49T>G (p.Trp17Gly) rs775853398 0.00001
NM_000310.4(PPT1):c.512C>T (p.Ala171Val) rs761687224 0.00001
NM_000310.4(PPT1):c.536+5G>T rs1208757133 0.00001
NM_000310.4(PPT1):c.536G>A (p.Arg179His) rs370069880 0.00001
NM_000310.4(PPT1):c.626G>A (p.Arg209Gln) rs201265025 0.00001
NM_000310.4(PPT1):c.647A>G (p.Lys216Arg) rs1296750828 0.00001
NM_000310.4(PPT1):c.695A>G (p.Asn232Ser) rs768490419 0.00001
NM_000310.4(PPT1):c.71T>C (p.Leu24Pro) rs746667989 0.00001
NM_000310.4(PPT1):c.722C>T (p.Ser241Leu) rs746043871 0.00001
NM_000310.4(PPT1):c.769C>A (p.Pro257Thr) rs201313087 0.00001
NM_000310.4(PPT1):c.798+3A>G rs1454468517 0.00001
NM_000310.4(PPT1):c.817G>A (p.Glu273Lys) rs1193191643 0.00001
NM_000310.4(PPT1):c.830C>T (p.Ala277Val) rs1447656117 0.00001
NM_000310.4(PPT1):c.86C>A (p.Pro29Gln) rs778256566 0.00001
NM_000310.4(PPT1):c.877T>C (p.Ser293Pro) rs1304668396 0.00001
NM_000310.4(PPT1):c.89C>T (p.Pro30Leu) rs757268571 0.00001
NM_000310.4(PPT1):c.908C>T (p.Pro303Leu) rs1270614783 0.00001
NC_000001.10:g.(?_40539733)_(40539875_?)dup
NC_000001.10:g.(?_40539733)_(40546179_?)dup
NM_000310.3(PPT1):c.-73G>C rs559058511
NM_000310.4(PPT1):c.*1088G>A rs1057515481
NM_000310.4(PPT1):c.*127A>T rs780010424
NM_000310.4(PPT1):c.*252C>T rs1057515447
NM_000310.4(PPT1):c.*521_*532dup rs1553166026
NM_000310.4(PPT1):c.*529_*530insAGCA rs1553166029
NM_000310.4(PPT1):c.*529_*530insGTCA rs1553166030
NM_000310.4(PPT1):c.*709T>C rs767547423
NM_000310.4(PPT1):c.*969A>G rs376286074
NM_000310.4(PPT1):c.113G>C (p.Trp38Ser) rs1026370829
NM_000310.4(PPT1):c.115_120del (p.His39_Gly40del) rs2124494364
NM_000310.4(PPT1):c.125-3T>C
NM_000310.4(PPT1):c.125G>A (p.Gly42Glu) rs386833631
NM_000310.4(PPT1):c.143C>T (p.Pro48Leu)
NM_000310.4(PPT1):c.147A>C (p.Leu49Phe) rs781048683
NM_000310.4(PPT1):c.150C>T (p.Ser50=) rs1649625101
NM_000310.4(PPT1):c.155G>C (p.Gly52Ala) rs1225799280
NM_000310.4(PPT1):c.167A>T (p.Lys56Ile) rs2124488428
NM_000310.4(PPT1):c.170T>A (p.Met57Lys)
NM_000310.4(PPT1):c.170T>C (p.Met57Thr) rs766489334
NM_000310.4(PPT1):c.175_177del (p.Glu59del) rs1553167495
NM_000310.4(PPT1):c.17G>C (p.Cys6Ser) rs202241486
NM_000310.4(PPT1):c.17G>T (p.Cys6Phe) rs202241486
NM_000310.4(PPT1):c.190G>C (p.Gly64Arg)
NM_000310.4(PPT1):c.191G>A (p.Gly64Glu)
NM_000310.4(PPT1):c.19C>A (p.Leu7Met) rs375262288
NM_000310.4(PPT1):c.233A>C (p.Glu78Ala)
NM_000310.4(PPT1):c.233A>G (p.Glu78Gly) rs769365325
NM_000310.4(PPT1):c.234+8G>A rs746750426
NM_000310.4(PPT1):c.237C>A (p.Asp79Glu)
NM_000310.4(PPT1):c.239T>G (p.Val80Gly) rs762619451
NM_000310.4(PPT1):c.241G>A (p.Glu81Lys)
NM_000310.4(PPT1):c.246C>A (p.Asn82Lys)
NM_000310.4(PPT1):c.25C>T (p.Leu9Phe)
NM_000310.4(PPT1):c.265A>G (p.Asn89Asp) rs1649599567
NM_000310.4(PPT1):c.277A>G (p.Thr93Ala)
NM_000310.4(PPT1):c.293C>T (p.Ala98Val) rs768065632
NM_000310.4(PPT1):c.317A>G (p.Gln106Arg)
NM_000310.4(PPT1):c.328A>G (p.Asn110Asp) rs776026842
NM_000310.4(PPT1):c.32C>A (p.Ala11Asp)
NM_000310.4(PPT1):c.334A>G (p.Met112Val) rs760532726
NM_000310.4(PPT1):c.341T>C (p.Phe114Ser) rs771910918
NM_000310.4(PPT1):c.35T>C (p.Val12Ala)
NM_000310.4(PPT1):c.362+5G>A rs796052924
NM_000310.4(PPT1):c.363-5C>G rs112553480
NM_000310.4(PPT1):c.363G>A (p.Leu121=)
NM_000310.4(PPT1):c.386C>T (p.Pro129Leu)
NM_000310.4(PPT1):c.401T>G (p.Ile134Ser)
NM_000310.4(PPT1):c.404A>G (p.Asn135Ser) rs1342695798
NM_000310.4(PPT1):c.40C>G (p.Leu14Val) rs550492793
NM_000310.4(PPT1):c.410T>C (p.Ile137Thr)
NM_000310.4(PPT1):c.428A>G (p.His143Arg)
NM_000310.4(PPT1):c.430C>G (p.Gln144Glu)
NM_000310.4(PPT1):c.433+5C>A rs1553167414
NM_000310.4(PPT1):c.433G>A (p.Gly145Ser) rs369186379
NM_000310.4(PPT1):c.443G>A (p.Gly148Glu)
NM_000310.4(PPT1):c.443G>T (p.Gly148Val)
NM_000310.4(PPT1):c.451C>G (p.Arg151Gly) rs137852700
NM_000310.4(PPT1):c.474C>A (p.His158Gln)
NM_000310.4(PPT1):c.491G>A (p.Arg164Gln)
NM_000310.4(PPT1):c.49T>C (p.Trp17Arg) rs775853398
NM_000310.4(PPT1):c.509G>A (p.Gly170Glu) rs1553167257
NM_000310.4(PPT1):c.511G>C (p.Ala171Pro)
NM_000310.4(PPT1):c.518C>T (p.Ser173Phe) rs1649436438
NM_000310.4(PPT1):c.520A>G (p.Lys174Glu) rs1649436304
NM_000310.4(PPT1):c.521A>G (p.Lys174Arg)
NM_000310.4(PPT1):c.537-3C>T
NM_000310.4(PPT1):c.553T>C (p.Tyr185His) rs2124474563
NM_000310.4(PPT1):c.564C>A (p.Asp188Glu) rs1349674706
NM_000310.4(PPT1):c.566C>T (p.Pro189Leu)
NM_000310.4(PPT1):c.56_57delinsCT (p.Cys19Ser)
NM_000310.4(PPT1):c.572A>C (p.Lys191Thr) rs1557708208
NM_000310.4(PPT1):c.574G>A (p.Glu192Lys) rs1557708202
NM_000310.4(PPT1):c.57C>G (p.Cys19Trp)
NM_000310.4(PPT1):c.583T>C (p.Tyr195His) rs1648869873
NM_000310.4(PPT1):c.583T>G (p.Tyr195Asp) rs1648869873
NM_000310.4(PPT1):c.59C>T (p.Ala20Val) rs1187613034
NM_000310.4(PPT1):c.5C>T (p.Ala2Val)
NM_000310.4(PPT1):c.607G>A (p.Ala203Thr)
NM_000310.4(PPT1):c.628G>A (p.Gly210Ser) rs200434104
NM_000310.4(PPT1):c.634A>G (p.Asn212Asp)
NM_000310.4(PPT1):c.634A>T (p.Asn212Tyr) rs375831846
NM_000310.4(PPT1):c.635A>G (p.Asn212Ser)
NM_000310.4(PPT1):c.646A>G (p.Lys216Glu) rs766163400
NM_000310.4(PPT1):c.64C>T (p.Arg22Trp) rs1189526127
NM_000310.4(PPT1):c.65G>C (p.Arg22Pro) rs1649904164
NM_000310.4(PPT1):c.662C>T (p.Ala221Val)
NM_000310.4(PPT1):c.674T>C (p.Phe225Ser) rs386833662
NM_000310.4(PPT1):c.690C>T (p.Phe230=) rs1648754113
NM_000310.4(PPT1):c.696T>G (p.Asn232Lys)
NM_000310.4(PPT1):c.704T>C (p.Ile235Thr)
NM_000310.4(PPT1):c.705T>C (p.Ile235=) rs1057515448
NM_000310.4(PPT1):c.718G>A (p.Asp240Asn) rs796052926
NM_000310.4(PPT1):c.733G>C (p.Gly245Arg) rs1259755308
NM_000310.4(PPT1):c.745A>T (p.Ser249Cys)
NM_000310.4(PPT1):c.770C>T (p.Pro257Leu) rs2124470302
NM_000310.4(PPT1):c.794C>G (p.Thr265Arg) rs746139685
NM_000310.4(PPT1):c.822G>A (p.Met274Ile) rs1648441107
NM_000310.4(PPT1):c.824A>T (p.Asp275Val) rs775402028
NM_000310.4(PPT1):c.832G>A (p.Gly278Arg) rs1243793048
NM_000310.4(PPT1):c.84C>G (p.Asp28Glu) rs1228014012
NM_000310.4(PPT1):c.850G>C (p.Ala284Pro) rs1648437826
NM_000310.4(PPT1):c.862G>A (p.Asp288Asn) rs749414998
NM_000310.4(PPT1):c.878C>T (p.Ser293Phe) rs374154128
NM_000310.4(PPT1):c.894T>C (p.Tyr298=) rs781759073
NM_000310.4(PPT1):c.896C>T (p.Ala299Val) rs768943497
NM_000310.4(PPT1):c.899A>C (p.His300Pro)
NM_000310.4(PPT1):c.89C>G (p.Pro30Arg)
NM_000310.4(PPT1):c.8C>T (p.Ser3Leu)
NM_000310.4(PPT1):c.902T>A (p.Ile301Asn) rs1648432406
NM_000310.4(PPT1):c.906A>G (p.Ile302Met)
NM_000310.4(PPT1):c.910T>C (p.Phe304Leu) rs1557704819
NM_000310.4(PPT1):c.914T>G (p.Leu305Arg) rs386833671
NM_000310.4(PPT1):c.916G>C (p.Gly306Arg)
NM_000310.4(PPT1):c.98T>A (p.Leu33Gln) rs2124494434

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