ClinVar Miner

List of variants reported as likely benign for Neuronal ceroid lipofuscinosis 1 by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 262
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 0.00007
NM_000310.4(PPT1):c.198C>T (p.Tyr66=) rs200035288 0.00005
NM_000310.4(PPT1):c.543G>A (p.Val181=) rs374121503 0.00005
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.810G>C (p.Gly270=) rs371213189 0.00004
NM_000310.4(PPT1):c.124+9G>C rs547801545 0.00003
NM_000310.4(PPT1):c.234+14C>T rs779785372 0.00003
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.124+7G>T rs1649898430 0.00002
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.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.799-16G>C rs1294889179 0.00002
NM_000310.4(PPT1):c.124+19T>G rs1341312978 0.00001
NM_000310.4(PPT1):c.124+20A>G rs1225903133 0.00001
NM_000310.4(PPT1):c.125-14G>A rs1649627487 0.00001
NM_000310.4(PPT1):c.125-19A>G rs372257702 0.00001
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.183A>G (p.Lys61=) rs1649622343 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.235-5T>C rs1325787292 0.00001
NM_000310.4(PPT1):c.235-7T>G rs1248899218 0.00001
NM_000310.4(PPT1):c.288T>C (p.Cys96=) rs375820734 0.00001
NM_000310.4(PPT1):c.362+18dup rs2523687421 0.00001
NM_000310.4(PPT1):c.362+20A>G rs1460913262 0.00001
NM_000310.4(PPT1):c.362+9C>G rs753316381 0.00001
NM_000310.4(PPT1):c.414G>A (p.Ser138=) rs375016993 0.00001
NM_000310.4(PPT1):c.42C>T (p.Leu14=) rs371884332 0.00001
NM_000310.4(PPT1):c.433+10C>T rs1343334003 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.444A>G (p.Gly148=) rs1337942495 0.00001
NM_000310.4(PPT1):c.459A>G (p.Pro153=) rs925670645 0.00001
NM_000310.4(PPT1):c.48A>G (p.Pro16=) rs1003007171 0.00001
NM_000310.4(PPT1):c.499C>T (p.Leu167=) rs1263303183 0.00001
NM_000310.4(PPT1):c.536+18A>C rs1209207433 0.00001
NM_000310.4(PPT1):c.537-13T>C rs1171058021 0.00001
NM_000310.4(PPT1):c.537-15T>C rs1648875688 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.549C>T (p.Ala183=) rs1408279040 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.702C>T (p.Ser234=) rs779783483 0.00001
NM_000310.4(PPT1):c.711C>T (p.Asp237=) rs1648751390 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.726+13T>C rs1012254796 0.00001
NM_000310.4(PPT1):c.732T>C (p.Phe244=) rs559580128 0.00001
NM_000310.4(PPT1):c.799-18T>C rs1468385779 0.00001
NM_000310.4(PPT1):c.819A>G (p.Glu273=) rs2124465651 0.00001
NM_000310.4(PPT1):c.828T>C (p.Asn276=) rs1648440502 0.00001
NM_000310.4(PPT1):c.838C>T (p.Leu280=) rs188477623 0.00001
NM_000310.4(PPT1):c.873G>A (p.Gln291=) rs1031494186 0.00001
NM_000310.4(PPT1):c.879T>A (p.Ser293=) rs769994024 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=) rs561112232
NM_000310.4(PPT1):c.108G>T (p.Val36=) rs2124494393
NM_000310.4(PPT1):c.120G>A (p.Gly40=) rs1430048390
NM_000310.4(PPT1):c.124+12A>G
NM_000310.4(PPT1):c.124+13G>A rs763458409
NM_000310.4(PPT1):c.124+14A>G rs2523709132
NM_000310.4(PPT1):c.124+15A>T rs2523709126
NM_000310.4(PPT1):c.124+2TGAG[2] rs768863525
NM_000310.4(PPT1):c.124+8A>C rs774515183
NM_000310.4(PPT1):c.125-18T>C rs1398575366
NM_000310.4(PPT1):c.125-6G>C rs2523690554
NM_000310.4(PPT1):c.125-9G>A rs2523690589
NM_000310.4(PPT1):c.138C>T (p.Cys46=) rs2523690430
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.189T>C (p.Pro63=) rs1391612853
NM_000310.4(PPT1):c.19C>T (p.Leu7=) rs375262288
NM_000310.4(PPT1):c.213G>A (p.Glu71=) rs2124488338
NM_000310.4(PPT1):c.216T>C (p.Ile72=) rs998610907
NM_000310.4(PPT1):c.219G>C (p.Gly73=) rs2523689849
NM_000310.4(PPT1):c.21G>A (p.Leu7=) rs2523709894
NM_000310.4(PPT1):c.228G>C (p.Leu76=) rs2523689780
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 rs200777536
NM_000310.4(PPT1):c.234+8G>A rs746750426
NM_000310.4(PPT1):c.234+8G>C rs746750426
NM_000310.4(PPT1):c.234+8G>T rs746750426
NM_000310.4(PPT1):c.235-18C>T rs2523688452
NM_000310.4(PPT1):c.235-20C>T
NM_000310.4(PPT1):c.235-6T>C rs377208127
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=) rs1444699051
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=) rs1379772634
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=) rs2523687866
NM_000310.4(PPT1):c.362+10T>A rs2124487685
NM_000310.4(PPT1):c.362+11T>C rs1553167465
NM_000310.4(PPT1):c.362+19T>A rs558442488
NM_000310.4(PPT1):c.362+19T>C rs558442488
NM_000310.4(PPT1):c.362+8C>T rs2124487694
NM_000310.4(PPT1):c.362+9C>T rs753316381
NM_000310.4(PPT1):c.363-18C>T rs143235344
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=) rs891853528
NM_000310.4(PPT1):c.36G>T (p.Val12=) rs891853528
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=) rs2124486809
NM_000310.4(PPT1):c.414G>T (p.Ser138=) rs375016993
NM_000310.4(PPT1):c.426A>G (p.Gln142=) rs759480265
NM_000310.4(PPT1):c.433+14T>C rs2523683751
NM_000310.4(PPT1):c.433+15_433+16del rs2523683736
NM_000310.4(PPT1):c.433+7_433+8del rs750997143
NM_000310.4(PPT1):c.433+9G>A rs1649550153
NM_000310.4(PPT1):c.433+9G>C rs1649550153
NM_000310.4(PPT1):c.434-10A>G rs2523675884
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.447C>T (p.Leu149=) rs2523675750
NM_000310.4(PPT1):c.456C>T (p.Cys152=) rs386833648
NM_000310.4(PPT1):c.45G>T (p.Leu15=) rs2124494548
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=) rs1003007171
NM_000310.4(PPT1):c.492A>G (p.Arg164=) rs2523675407
NM_000310.4(PPT1):c.498A>C (p.Thr166=) rs2523675375
NM_000310.4(PPT1):c.501G>C (p.Leu167=) rs2523675333
NM_000310.4(PPT1):c.507T>C (p.Ala169=) rs2523675295
NM_000310.4(PPT1):c.513G>T (p.Ala171=) rs150924738
NM_000310.4(PPT1):c.534A>G (p.Glu178=) rs771338519
NM_000310.4(PPT1):c.536+10G>A rs1293510783
NM_000310.4(PPT1):c.536+20A>G rs779620553
NM_000310.4(PPT1):c.536+7A>G rs960897155
NM_000310.4(PPT1):c.536+8T>C rs2523674837
NM_000310.4(PPT1):c.536+8T>G rs2523674837
NM_000310.4(PPT1):c.537-12T>G rs1057515556
NM_000310.4(PPT1):c.537-15T>G rs1648875688
NM_000310.4(PPT1):c.537-17C>G rs1482259792
NM_000310.4(PPT1):c.537-8T>A rs773581354
NM_000310.4(PPT1):c.537-8T>C rs773581354
NM_000310.4(PPT1):c.537-8T>G rs773581354
NM_000310.4(PPT1):c.537-9T>C rs1196766699
NM_000310.4(PPT1):c.54C>T (p.Thr18=) rs772052570
NM_000310.4(PPT1):c.555C>T (p.Tyr185=) rs2124474560
NM_000310.4(PPT1):c.579T>C (p.Asp193=) rs2523642516
NM_000310.4(PPT1):c.57C>T (p.Cys19=) rs530467912
NM_000310.4(PPT1):c.582G>A (p.Val194=) rs2523642508
NM_000310.4(PPT1):c.588C>T (p.Arg196=) rs755854033
NM_000310.4(PPT1):c.594C>T (p.His198=) rs373332797
NM_000310.4(PPT1):c.600C>A (p.Ile200=) rs767606363
NM_000310.4(PPT1):c.600C>T (p.Ile200=) rs767606363
NM_000310.4(PPT1):c.604T>C (p.Leu202=) rs1473357163
NM_000310.4(PPT1):c.606G>A (p.Leu202=)
NM_000310.4(PPT1):c.60T>C (p.Ala20=) rs2523709573
NM_000310.4(PPT1):c.627+10C>G rs2523642131
NM_000310.4(PPT1):c.627+12A>T rs2523642126
NM_000310.4(PPT1):c.627+15C>G rs566932238
NM_000310.4(PPT1):c.627+15C>T rs566932238
NM_000310.4(PPT1):c.627+16G>C
NM_000310.4(PPT1):c.627+18del
NM_000310.4(PPT1):c.628-11C>A rs2523635979
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 rs2523636009
NM_000310.4(PPT1):c.628-3dup rs2523635905
NM_000310.4(PPT1):c.628-5T>G rs1203591798
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=) rs1468274668
NM_000310.4(PPT1):c.678G>C (p.Val226=) rs1481792811
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.705T>C (p.Ile235=) rs1057515448
NM_000310.4(PPT1):c.717A>G (p.Val239=) rs1263161320
NM_000310.4(PPT1):c.723G>T (p.Ser241=) rs778863462
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 rs1648749193
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 rs2124470410
NM_000310.4(PPT1):c.727-18C>G rs2523631495
NM_000310.4(PPT1):c.72G>A (p.Leu24=) rs2523709458
NM_000310.4(PPT1):c.72G>C (p.Leu24=)
NM_000310.4(PPT1):c.741C>T (p.Tyr247=) rs2124470378
NM_000310.4(PPT1):c.744A>G (p.Arg248=) rs2124470357
NM_000310.4(PPT1):c.750C>A (p.Gly250=) rs1244256818
NM_000310.4(PPT1):c.771C>A (p.Pro257=) rs1321890707
NM_000310.4(PPT1):c.798+12G>A rs1648654547
NM_000310.4(PPT1):c.798+13del rs2523631051
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 rs1382850137
NM_000310.4(PPT1):c.799-12T>C rs1648446800
NM_000310.4(PPT1):c.799-19A>G rs367820578
NM_000310.4(PPT1):c.799-22_799-19del rs780665845
NM_000310.4(PPT1):c.799-4G>A rs756821401
NM_000310.4(PPT1):c.799-6C>G rs2523621009
NM_000310.4(PPT1):c.799-7T>C rs964708746
NM_000310.4(PPT1):c.799-8T>C rs2523621031
NM_000310.4(PPT1):c.799-9C>A rs1337942571
NM_000310.4(PPT1):c.799-9C>T rs1337942571
NM_000310.4(PPT1):c.810G>A (p.Gly270=) rs371213189
NM_000310.4(PPT1):c.810G>T (p.Gly270=) rs371213189
NM_000310.4(PPT1):c.813A>G (p.Leu271=) rs2124465658
NM_000310.4(PPT1):c.81G>A (p.Leu27=) rs2523709420
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=) rs2523620622
NM_000310.4(PPT1):c.870T>A (p.Leu290=)
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=) rs2523709325
NM_000310.4(PPT1):c.9G>C (p.Ser3=)

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.