ClinVar Miner

List of variants reported as likely benign for Neuronal ceroid lipofuscinosis 1 by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 246
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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.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.124+13G>A
NM_000310.4(PPT1):c.124+14A>G
NM_000310.4(PPT1):c.124+15A>T
NM_000310.4(PPT1):c.124+19T>G
NM_000310.4(PPT1):c.124+20A>G
NM_000310.4(PPT1):c.124+2TGAG[2] rs768863525
NM_000310.4(PPT1):c.124+7G>T rs1649898430
NM_000310.4(PPT1):c.124+8A>C
NM_000310.4(PPT1):c.124+9G>C
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.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+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.235-5T>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.270C>T (p.Ser90=) rs2124487917
NM_000310.4(PPT1):c.276A>G (p.Val92=)
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.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.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.628-11C>A
NM_000310.4(PPT1):c.628-15T>G rs2124472415
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+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.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+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.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=)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.