ClinVar Miner

List of variants in gene PPT1 reported as likely benign for neuronal ceroid lipofuscinosis

Included ClinVar conditions (26):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 256
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000310.3(PPT1):c.-201G>A rs116091180 0.00428
NM_000310.4(PPT1):c.*901C>T rs146411558 0.00313
NM_000310.4(PPT1):c.*1061C>T rs140459014 0.00173
NM_000310.4(PPT1):c.904A>G (p.Ile302Val) rs146902902 0.00091
NM_000310.4(PPT1):c.799-19A>C rs367820578 0.00046
NM_000310.4(PPT1):c.798+8G>A rs368106574 0.00018
NM_000310.4(PPT1):c.657G>C (p.Leu219=) rs773591614 0.00011
NM_000310.4(PPT1):c.513G>A (p.Ala171=) rs150924738 0.00010
NM_000310.4(PPT1):c.363-5C>T rs112553480 0.00009
NM_000310.4(PPT1):c.627+9C>T rs368895182 0.00008
NM_000310.4(PPT1):c.*1154T>C rs562172868 0.00006
NM_000310.4(PPT1):c.198C>T (p.Tyr66=) rs200035288 0.00004
NM_000310.4(PPT1):c.234+14C>T rs779785372 0.00004
NM_000310.4(PPT1):c.234+7C>T rs200777536 0.00004
NM_000310.4(PPT1):c.363-19A>G rs587781124 0.00004
NM_000310.4(PPT1):c.543G>A (p.Val181=) rs374121503 0.00004
NM_000310.4(PPT1):c.810G>C (p.Gly270=) rs371213189 0.00004
NM_000310.4(PPT1):c.282A>G (p.Thr94=) rs753828114 0.00003
NM_000310.4(PPT1):c.434-12C>T rs1195845438 0.00003
NM_000310.4(PPT1):c.141T>C (p.Asn47=) rs756148014 0.00002
NM_000310.4(PPT1):c.237C>T (p.Asp79=) rs373867152 0.00002
NM_000310.4(PPT1):c.255C>T (p.Phe85=) rs563017334 0.00002
NM_000310.4(PPT1):c.362+18A>G rs201717598 0.00002
NM_000310.4(PPT1):c.369A>G (p.Ala123=) rs138951598 0.00002
NM_000310.4(PPT1):c.537-12T>C rs1057515556 0.00002
NM_000310.4(PPT1):c.537-8T>C rs773581354 0.00002
NM_000310.4(PPT1):c.627+8C>T rs1427848229 0.00002
NM_000310.4(PPT1):c.645C>T (p.Tyr215=) rs906447282 0.00002
NM_000310.4(PPT1):c.726+9C>T rs1024088820 0.00002
NM_000310.4(PPT1):c.798+19A>G rs774008808 0.00002
NM_000310.4(PPT1):c.125-5G>A rs777893002 0.00001
NM_000310.4(PPT1):c.12C>T (p.Pro4=) rs140289866 0.00001
NM_000310.4(PPT1):c.145T>C (p.Leu49=) rs375188207 0.00001
NM_000310.4(PPT1):c.159T>C (p.Ala53=) rs1340441165 0.00001
NM_000310.4(PPT1):c.15C>T (p.Gly5=) rs749621114 0.00001
NM_000310.4(PPT1):c.177G>A (p.Glu59=) rs1322148659 0.00001
NM_000310.4(PPT1):c.18C>T (p.Cys6=) rs765938149 0.00001
NM_000310.4(PPT1):c.225C>T (p.Thr75=) rs1477732757 0.00001
NM_000310.4(PPT1):c.234+18T>C rs372965402 0.00001
NM_000310.4(PPT1):c.288T>C (p.Cys96=) rs375820734 0.00001
NM_000310.4(PPT1):c.426A>G (p.Gln142=) rs759480265 0.00001
NM_000310.4(PPT1):c.42C>T (p.Leu14=) rs371884332 0.00001
NM_000310.4(PPT1):c.433+11C>T rs535946203 0.00001
NM_000310.4(PPT1):c.435T>A (p.Gly145=) rs768915314 0.00001
NM_000310.4(PPT1):c.43C>T (p.Leu15=) rs1057522283 0.00001
NM_000310.4(PPT1):c.48A>G (p.Pro16=) rs1003007171 0.00001
NM_000310.4(PPT1):c.537-4A>G rs587781120 0.00001
NM_000310.4(PPT1):c.540C>T (p.Leu180=) rs375858133 0.00001
NM_000310.4(PPT1):c.54C>T (p.Thr18=) rs772052570 0.00001
NM_000310.4(PPT1):c.600C>T (p.Ile200=) rs767606363 0.00001
NM_000310.4(PPT1):c.627+15C>T rs566932238 0.00001
NM_000310.4(PPT1):c.628-10T>C rs557560550 0.00001
NM_000310.4(PPT1):c.628-8T>C rs758512449 0.00001
NM_000310.4(PPT1):c.639G>A (p.Glu213=) rs751303272 0.00001
NM_000310.4(PPT1):c.63T>C (p.Ser21=) rs774746695 0.00001
NM_000310.4(PPT1):c.678G>A (p.Val226=) rs1481792811 0.00001
NM_000310.4(PPT1):c.696T>C (p.Asn232=) rs746776515 0.00001
NM_000310.4(PPT1):c.717A>T (p.Val239=) rs1263161320 0.00001
NM_000310.4(PPT1):c.723G>A (p.Ser241=) rs778863462 0.00001
NM_000310.4(PPT1):c.732T>C (p.Phe244=) rs559580128 0.00001
NM_000310.4(PPT1):c.750C>A (p.Gly250=) rs1244256818 0.00001
NM_000310.4(PPT1):c.799-16G>C rs1294889179 0.00001
NM_000310.4(PPT1):c.900C>T (p.His300=) rs747432731 0.00001
NM_000310.4(PPT1):c.99G>A (p.Leu33=) rs1294056746 0.00001
NM_000310.4(PPT1):c.102G>C (p.Pro34=)
NM_000310.4(PPT1):c.108G>T (p.Val36=) rs2124494393
NM_000310.4(PPT1):c.120G>A (p.Gly40=)
NM_000310.4(PPT1):c.125-14G>A
NM_000310.4(PPT1):c.125-18T>C
NM_000310.4(PPT1):c.125-19A>G
NM_000310.4(PPT1):c.125-6G>C
NM_000310.4(PPT1):c.125-9G>A
NM_000310.4(PPT1):c.138C>T (p.Cys46=)
NM_000310.4(PPT1):c.144C>T (p.Pro48=) rs1265214190
NM_000310.4(PPT1):c.147A>G (p.Leu49=) rs781048683
NM_000310.4(PPT1):c.150C>T (p.Ser50=) rs1649625101
NM_000310.4(PPT1):c.183A>G (p.Lys61=)
NM_000310.4(PPT1):c.189T>C (p.Pro63=)
NM_000310.4(PPT1):c.19C>T (p.Leu7=)
NM_000310.4(PPT1):c.213G>A (p.Glu71=) rs2124488338
NM_000310.4(PPT1):c.216T>C (p.Ile72=)
NM_000310.4(PPT1):c.219G>C (p.Gly73=)
NM_000310.4(PPT1):c.21G>A (p.Leu7=)
NM_000310.4(PPT1):c.228G>C (p.Leu76=)
NM_000310.4(PPT1):c.234+10T>A rs942502702
NM_000310.4(PPT1):c.234+13A>G
NM_000310.4(PPT1):c.234+7C>A rs200777536
NM_000310.4(PPT1):c.234+7C>G
NM_000310.4(PPT1):c.234+8G>A rs746750426
NM_000310.4(PPT1):c.234+8G>C
NM_000310.4(PPT1):c.234+8G>T rs746750426
NM_000310.4(PPT1):c.235-18C>T
NM_000310.4(PPT1):c.235-20C>T
NM_000310.4(PPT1):c.235-5T>C
NM_000310.4(PPT1):c.235-6T>C rs377208127
NM_000310.4(PPT1):c.235-7T>G
NM_000310.4(PPT1):c.235-8T>G rs776672029
NM_000310.4(PPT1):c.235-9C>A rs1206919819
NM_000310.4(PPT1):c.256T>C (p.Leu86=) rs1570470451
NM_000310.4(PPT1):c.258G>A (p.Leu86=) rs2124487930
NM_000310.4(PPT1):c.261T>C (p.Asn87=)
NM_000310.4(PPT1):c.264C>T (p.Val88=) rs2124487920
NM_000310.4(PPT1):c.267T>C (p.Asn89=)
NM_000310.4(PPT1):c.270C>T (p.Ser90=) rs2124487917
NM_000310.4(PPT1):c.276A>G (p.Val92=)
NM_000310.4(PPT1):c.27C>A (p.Leu9=)
NM_000310.4(PPT1):c.27C>G (p.Leu9=) rs765173260
NM_000310.4(PPT1):c.27C>T (p.Leu9=) rs765173260
NM_000310.4(PPT1):c.282A>T (p.Thr94=) rs753828114
NM_000310.4(PPT1):c.285G>A (p.Val95=) rs777865799
NM_000310.4(PPT1):c.309T>C (p.Pro103=)
NM_000310.4(PPT1):c.362+10T>A rs2124487685
NM_000310.4(PPT1):c.362+11T>C
NM_000310.4(PPT1):c.362+18dup
NM_000310.4(PPT1):c.362+19T>A rs558442488
NM_000310.4(PPT1):c.362+19T>C rs558442488
NM_000310.4(PPT1):c.362+20A>G
NM_000310.4(PPT1):c.362+8C>T rs2124487694
NM_000310.4(PPT1):c.362+9C>G
NM_000310.4(PPT1):c.362+9C>T rs753316381
NM_000310.4(PPT1):c.363-18C>T
NM_000310.4(PPT1):c.363-4G>C rs117284255
NM_000310.4(PPT1):c.363-4G>T rs117284255
NM_000310.4(PPT1):c.36G>A (p.Val12=)
NM_000310.4(PPT1):c.36G>T (p.Val12=)
NM_000310.4(PPT1):c.378G>A (p.Gln126=) rs2124486877
NM_000310.4(PPT1):c.384C>T (p.Cys128=) rs1014940109
NM_000310.4(PPT1):c.393T>C (p.Pro131=) rs1222439879
NM_000310.4(PPT1):c.411C>T (p.Ile137=)
NM_000310.4(PPT1):c.414G>A (p.Ser138=)
NM_000310.4(PPT1):c.414G>T (p.Ser138=)
NM_000310.4(PPT1):c.433+10C>T
NM_000310.4(PPT1):c.433+14T>C
NM_000310.4(PPT1):c.433+15_433+16del
NM_000310.4(PPT1):c.433+7_433+8del rs750997143
NM_000310.4(PPT1):c.433+9G>A
NM_000310.4(PPT1):c.433+9G>C rs1649550153
NM_000310.4(PPT1):c.434-10A>G
NM_000310.4(PPT1):c.434-14A>G rs1355083951
NM_000310.4(PPT1):c.434-7A>G
NM_000310.4(PPT1):c.441T>C (p.Phe147=) rs1258668425
NM_000310.4(PPT1):c.444A>G (p.Gly148=)
NM_000310.4(PPT1):c.447C>T (p.Leu149=)
NM_000310.4(PPT1):c.456C>T (p.Cys152=)
NM_000310.4(PPT1):c.459A>G (p.Pro153=)
NM_000310.4(PPT1):c.45G>T (p.Leu15=)
NM_000310.4(PPT1):c.474C>T (p.His158=) rs549251715
NM_000310.4(PPT1):c.480T>C (p.Cys160=) rs2124484321
NM_000310.4(PPT1):c.489C>A (p.Ile163=) rs1649438329
NM_000310.4(PPT1):c.48A>T (p.Pro16=)
NM_000310.4(PPT1):c.492A>G (p.Arg164=)
NM_000310.4(PPT1):c.498A>C (p.Thr166=)
NM_000310.4(PPT1):c.499C>T (p.Leu167=)
NM_000310.4(PPT1):c.501G>C (p.Leu167=)
NM_000310.4(PPT1):c.507T>C (p.Ala169=)
NM_000310.4(PPT1):c.513G>T (p.Ala171=)
NM_000310.4(PPT1):c.534A>G (p.Glu178=)
NM_000310.4(PPT1):c.536+10G>A rs1293510783
NM_000310.4(PPT1):c.536+18A>C
NM_000310.4(PPT1):c.536+20A>G
NM_000310.4(PPT1):c.536+7A>G rs960897155
NM_000310.4(PPT1):c.536+8T>C
NM_000310.4(PPT1):c.536+8T>G
NM_000310.4(PPT1):c.537-12T>G
NM_000310.4(PPT1):c.537-13T>C
NM_000310.4(PPT1):c.537-15T>C
NM_000310.4(PPT1):c.537-15T>G
NM_000310.4(PPT1):c.537-17C>G
NM_000310.4(PPT1):c.537-8T>A
NM_000310.4(PPT1):c.537-8T>G
NM_000310.4(PPT1):c.537-9T>C rs1196766699
NM_000310.4(PPT1):c.549C>T (p.Ala183=) rs1408279040
NM_000310.4(PPT1):c.555C>T (p.Tyr185=) rs2124474560
NM_000310.4(PPT1):c.579T>C (p.Asp193=)
NM_000310.4(PPT1):c.57C>T (p.Cys19=)
NM_000310.4(PPT1):c.582G>A (p.Val194=)
NM_000310.4(PPT1):c.588C>T (p.Arg196=)
NM_000310.4(PPT1):c.594C>T (p.His198=)
NM_000310.4(PPT1):c.600C>A (p.Ile200=) rs767606363
NM_000310.4(PPT1):c.604T>C (p.Leu202=)
NM_000310.4(PPT1):c.606G>A (p.Leu202=)
NM_000310.4(PPT1):c.60T>C (p.Ala20=)
NM_000310.4(PPT1):c.627+10C>G
NM_000310.4(PPT1):c.627+12A>T
NM_000310.4(PPT1):c.627+15C>G
NM_000310.4(PPT1):c.627+16G>C
NM_000310.4(PPT1):c.627+18del
NM_000310.4(PPT1):c.628-11C>A
NM_000310.4(PPT1):c.628-15T>G rs2124472415
NM_000310.4(PPT1):c.628-15_628-12del
NM_000310.4(PPT1):c.628-19T>A
NM_000310.4(PPT1):c.628-3dup
NM_000310.4(PPT1):c.628-5T>G
NM_000310.4(PPT1):c.628-9_628-8delinsGC rs2124472401
NM_000310.4(PPT1):c.630T>C (p.Gly210=) rs1402937226
NM_000310.4(PPT1):c.651A>G (p.Lys217=) rs1553166517
NM_000310.4(PPT1):c.669G>A (p.Lys223=)
NM_000310.4(PPT1):c.678G>C (p.Val226=)
NM_000310.4(PPT1):c.690C>T (p.Phe230=) rs1648754113
NM_000310.4(PPT1):c.693C>G (p.Leu231=) rs2124472262
NM_000310.4(PPT1):c.693C>T (p.Leu231=) rs2124472262
NM_000310.4(PPT1):c.6G>C (p.Ala2=) rs587781121
NM_000310.4(PPT1):c.702C>T (p.Ser234=)
NM_000310.4(PPT1):c.705T>C (p.Ile235=) rs1057515448
NM_000310.4(PPT1):c.711C>T (p.Asp237=)
NM_000310.4(PPT1):c.717A>G (p.Val239=) rs1263161320
NM_000310.4(PPT1):c.723G>T (p.Ser241=)
NM_000310.4(PPT1):c.726+13T>C rs1012254796
NM_000310.4(PPT1):c.726+17G>A rs757350622
NM_000310.4(PPT1):c.726+18C>T
NM_000310.4(PPT1):c.726+19C>T
NM_000310.4(PPT1):c.726+8A>G rs1648749980
NM_000310.4(PPT1):c.726+9C>G rs1024088820
NM_000310.4(PPT1):c.727-10T>G rs554894547
NM_000310.4(PPT1):c.727-11_727-3del rs2124470397
NM_000310.4(PPT1):c.727-17C>T
NM_000310.4(PPT1):c.727-18C>G
NM_000310.4(PPT1):c.72G>A (p.Leu24=)
NM_000310.4(PPT1):c.72G>C (p.Leu24=)
NM_000310.4(PPT1):c.741C>T (p.Tyr247=)
NM_000310.4(PPT1):c.744A>G (p.Arg248=) rs2124470357
NM_000310.4(PPT1):c.771C>A (p.Pro257=) rs1321890707
NM_000310.4(PPT1):c.798+12G>A
NM_000310.4(PPT1):c.798+13del
NM_000310.4(PPT1):c.798+14A>G
NM_000310.4(PPT1):c.798+7_798+22del rs2124470212
NM_000310.4(PPT1):c.799-11T>G
NM_000310.4(PPT1):c.799-12T>C
NM_000310.4(PPT1):c.799-18T>C
NM_000310.4(PPT1):c.799-19A>G
NM_000310.4(PPT1):c.799-22_799-19del
NM_000310.4(PPT1):c.799-4G>A
NM_000310.4(PPT1):c.799-6C>G
NM_000310.4(PPT1):c.799-7T>C
NM_000310.4(PPT1):c.799-8T>C
NM_000310.4(PPT1):c.799-9C>A
NM_000310.4(PPT1):c.799-9C>T
NM_000310.4(PPT1):c.810G>A (p.Gly270=) rs371213189
NM_000310.4(PPT1):c.810G>T (p.Gly270=)
NM_000310.4(PPT1):c.813A>G (p.Leu271=) rs2124465658
NM_000310.4(PPT1):c.819A>G (p.Glu273=) rs2124465651
NM_000310.4(PPT1):c.81G>A (p.Leu27=)
NM_000310.4(PPT1):c.828T>C (p.Asn276=) rs1648440502
NM_000310.4(PPT1):c.838C>T (p.Leu280=)
NM_000310.4(PPT1):c.840A>G (p.Leu280=) rs769125787
NM_000310.4(PPT1):c.843G>A (p.Val281=) rs1337941065
NM_000310.4(PPT1):c.849G>A (p.Leu283=)
NM_000310.4(PPT1):c.870T>A (p.Leu290=)
NM_000310.4(PPT1):c.873G>A (p.Gln291=)
NM_000310.4(PPT1):c.879T>A (p.Ser293=)
NM_000310.4(PPT1):c.885A>G (p.Glu295=) rs2124465517
NM_000310.4(PPT1):c.894T>C (p.Tyr298=) rs781759073
NM_000310.4(PPT1):c.897C>A (p.Ala299=) rs2124465491
NM_000310.4(PPT1):c.909A>G (p.Pro303=) rs1570448364
NM_000310.4(PPT1):c.97C>T (p.Leu33=)
NM_000310.4(PPT1):c.9G>C (p.Ser3=)

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