ClinVar Miner

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

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 252
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003793.4(CTSF):c.676C>T (p.Arg226Cys) rs143313688 0.00277
NM_002087.4(GRN):c.1298G>A (p.Arg433Gln) rs114248177 0.00247
NM_003793.4(CTSF):c.683C>G (p.Thr228Arg) rs148611356 0.00105
NM_002087.4(GRN):c.1126G>A (p.Asp376Asn) rs143030899 0.00082
NM_002087.4(GRN):c.359C>A (p.Ser120Tyr) rs63750043 0.00076
NM_002087.4(GRN):c.253C>G (p.Pro85Ala) rs143560849 0.00058
NM_002087.4(GRN):c.1515C>T (p.Ala505=) rs147495221 0.00052
NM_002087.4(GRN):c.393C>G (p.Phe131Leu) rs149180605 0.00052
NM_003793.4(CTSF):c.213+7A>T rs761072570 0.00050
NM_002087.4(GRN):c.513C>T (p.Cys171=) rs147974849 0.00044
NM_002087.4(GRN):c.903G>A (p.Ser301=) rs63750142 0.00044
NM_002087.4(GRN):c.981G>A (p.Thr327=) rs145655086 0.00041
NM_003793.4(CTSF):c.214-6C>T rs376579629 0.00026
NM_002087.4(GRN):c.276C>T (p.Cys92=) rs146792371 0.00024
NM_002087.4(GRN):c.1253G>A (p.Arg418Gln) rs63751100 0.00022
NM_002087.4(GRN):c.360C>T (p.Ser120=) rs375183423 0.00021
NM_002087.4(GRN):c.705C>A (p.Pro235=) rs148507354 0.00019
NM_002087.4(GRN):c.349+12G>T rs367640963 0.00018
NM_003793.4(CTSF):c.1203C>T (p.Ser401=) rs139027846 0.00016
NM_002087.4(GRN):c.1539C>T (p.His513=) rs772977073 0.00014
NM_002087.4(GRN):c.279G>A (p.Gly93=) rs63751088 0.00014
NM_003793.4(CTSF):c.780G>A (p.Lys260=) rs140002533 0.00012
NM_002087.4(GRN):c.507C>G (p.Ala169=) rs113426443 0.00011
NM_003793.4(CTSF):c.597G>A (p.Glu199=) rs200932066 0.00011
NM_002087.4(GRN):c.836-8C>T rs376226985 0.00010
NM_002087.4(GRN):c.1449G>A (p.Pro483=) rs150294858 0.00009
NM_002087.4(GRN):c.1647C>T (p.Gly549=) rs745391227 0.00009
NM_002087.4(GRN):c.429C>T (p.Val143=) rs369649646 0.00009
NM_003793.4(CTSF):c.810C>T (p.Leu270=) rs147398226 0.00009
NM_003793.4(CTSF):c.868-17C>G rs554536950 0.00009
NM_002087.4(GRN):c.1341C>T (p.His447=) rs63750775 0.00008
NM_002087.4(GRN):c.615G>A (p.Ser205=) rs372963871 0.00008
NM_002087.4(GRN):c.626C>T (p.Pro209Leu) rs368995988 0.00008
NM_002087.4(GRN):c.1742A>T (p.Asp581Val) rs768223928 0.00007
NM_002087.4(GRN):c.1641C>T (p.Arg547=) rs149658268 0.00006
NM_002087.4(GRN):c.102C>T (p.Pro34=) rs63751074 0.00005
NM_002087.4(GRN):c.501C>T (p.His167=) rs372194047 0.00005
NM_002087.4(GRN):c.555C>T (p.His185=) rs146250263 0.00005
NM_002087.4(GRN):c.933+15C>T rs1306228988 0.00005
NM_003793.4(CTSF):c.351C>T (p.His117=) rs112809338 0.00005
NM_002087.4(GRN):c.1695C>T (p.Cys565=) rs63751248 0.00004
NM_002087.4(GRN):c.402G>A (p.Pro134=) rs201932427 0.00004
NM_002087.4(GRN):c.552C>T (p.Thr184=) rs141697391 0.00004
NM_002087.4(GRN):c.690C>T (p.Gly230=) rs956842924 0.00004
NM_002087.4(GRN):c.709-12G>C rs771557106 0.00004
NM_003793.4(CTSF):c.1026C>T (p.Tyr342=) rs762134997 0.00004
NM_002087.4(GRN):c.1485C>T (p.Cys495=) rs63750576 0.00003
NM_002087.4(GRN):c.57G>T (p.Arg19=) rs1426790644 0.00003
NM_002087.4(GRN):c.933+11G>A rs373518235 0.00003
NM_003793.4(CTSF):c.1218C>T (p.Ala406=) rs758499333 0.00003
NM_002087.4(GRN):c.327G>A (p.Gly109=) rs753361816 0.00002
NM_002087.4(GRN):c.630C>T (p.Asp210=) rs768056183 0.00002
NM_002087.4(GRN):c.723C>T (p.Ser241=) rs200408271 0.00002
NM_002087.4(GRN):c.969C>T (p.Pro323=) rs749575144 0.00002
NM_003793.4(CTSF):c.1230+14C>T rs759960583 0.00002
NM_002087.4(GRN):c.1125C>T (p.Ser375=) rs569994549 0.00001
NM_002087.4(GRN):c.1146G>A (p.Thr382=) rs200308105 0.00001
NM_002087.4(GRN):c.1180-16C>A rs1167667946 0.00001
NM_002087.4(GRN):c.1180-8C>T rs774308165 0.00001
NM_002087.4(GRN):c.1221C>A (p.Gly407=) rs201630084 0.00001
NM_002087.4(GRN):c.1269G>A (p.Val423=) rs1472989013 0.00001
NM_002087.4(GRN):c.1425C>T (p.Cys475=) rs63751104 0.00001
NM_002087.4(GRN):c.1521C>T (p.Phe507=) rs140070738 0.00001
NM_002087.4(GRN):c.498G>A (p.Pro166=) rs141873754 0.00001
NM_002087.4(GRN):c.54G>A (p.Thr18=) rs753160641 0.00001
NM_002087.4(GRN):c.627G>A (p.Pro209=) rs374385285 0.00001
NM_002087.4(GRN):c.69T>C (p.Gly23=) rs756420341 0.00001
NM_002087.4(GRN):c.708C>T (p.Asn236=) rs63750744 0.00001
NM_002087.4(GRN):c.709-8C>T rs373210564 0.00001
NM_002087.4(GRN):c.804G>A (p.Thr268=) rs63750229 0.00001
NM_002087.4(GRN):c.891C>T (p.Cys297=) rs1341898712 0.00001
NM_002087.4(GRN):c.933+7del rs762910178 0.00001
NM_002087.4(GRN):c.990G>A (p.Thr330=) rs375066213 0.00001
NM_003793.4(CTSF):c.213+20G>A rs1046921955 0.00001
NM_003793.4(CTSF):c.246C>A (p.Ala82=) rs756262196 0.00001
NM_002087.4(GRN):c.1020C>T (p.His340=)
NM_002087.4(GRN):c.1041G>A (p.Lys347=)
NM_002087.4(GRN):c.1060C>T (p.Leu354=)
NM_002087.4(GRN):c.1071A>T (p.Pro357=) rs765677842
NM_002087.4(GRN):c.108A>T (p.Gly36=)
NM_002087.4(GRN):c.1092C>T (p.Val364=)
NM_002087.4(GRN):c.1149T>A (p.Ser383=)
NM_002087.4(GRN):c.1152G>A (p.Gly384=)
NM_002087.4(GRN):c.1179+15del
NM_002087.4(GRN):c.1180-12C>T
NM_002087.4(GRN):c.1180-4C>A
NM_002087.4(GRN):c.1180-7C>G rs1288562767
NM_002087.4(GRN):c.1180-9A>C
NM_002087.4(GRN):c.1194G>A (p.Ser398=)
NM_002087.4(GRN):c.1227G>T (p.Thr409=)
NM_002087.4(GRN):c.1266C>T (p.Ile422=)
NM_002087.4(GRN):c.129T>C (p.Arg43=) rs2143325907
NM_002087.4(GRN):c.1326C>T (p.Ile442=) rs748758630
NM_002087.4(GRN):c.1344C>G (p.Thr448=)
NM_002087.4(GRN):c.1344C>T (p.Thr448=)
NM_002087.4(GRN):c.1374G>A (p.Pro458=)
NM_002087.4(GRN):c.1374G>C (p.Pro458=)
NM_002087.4(GRN):c.138+13C>G
NM_002087.4(GRN):c.139-10_139-7del
NM_002087.4(GRN):c.139-12C>G
NM_002087.4(GRN):c.139-13C>T
NM_002087.4(GRN):c.139-18T>C
NM_002087.4(GRN):c.139-20C>A
NM_002087.4(GRN):c.139-7T>G
NM_002087.4(GRN):c.1395C>T (p.Ala465=) rs2143346048
NM_002087.4(GRN):c.1413+20C>T
NM_002087.4(GRN):c.1413+8C>T
NM_002087.4(GRN):c.1414-5G>T
NM_002087.4(GRN):c.1414-6C>T
NM_002087.4(GRN):c.1414-9C>T
NM_002087.4(GRN):c.1434C>T (p.Arg478=)
NM_002087.4(GRN):c.1464C>T (p.Cys488=) rs1253276640
NM_002087.4(GRN):c.1467C>T (p.Asn489=)
NM_002087.4(GRN):c.1482C>T (p.Ser494=)
NM_002087.4(GRN):c.1497G>A (p.Val499=) rs375682522
NM_002087.4(GRN):c.1497G>C (p.Val499=) rs375682522
NM_002087.4(GRN):c.1497G>T (p.Val499=)
NM_002087.4(GRN):c.1518C>T (p.Thr506=) rs768852944
NM_002087.4(GRN):c.1527C>T (p.Ala509=)
NM_002087.4(GRN):c.1548G>T (p.Val516=) rs1044281109
NM_002087.4(GRN):c.1554C>T (p.Asp518=)
NM_002087.4(GRN):c.1560G>A (p.Glu520=)
NM_002087.4(GRN):c.1575C>T (p.His525=)
NM_002087.4(GRN):c.1578C>T (p.Phe526=) rs2143348471
NM_002087.4(GRN):c.1644+10A>T
NM_002087.4(GRN):c.1644+13C>A rs1219352976
NM_002087.4(GRN):c.1644+20C>T
NM_002087.4(GRN):c.1645-15C>G rs1292365225
NM_002087.4(GRN):c.1645-17C>T
NM_002087.4(GRN):c.1645-19C>T
NM_002087.4(GRN):c.1645-20G>A rs368901283
NM_002087.4(GRN):c.1645-20G>T
NM_002087.4(GRN):c.1665G>T (p.Arg555=)
NM_002087.4(GRN):c.1674C>T (p.Cys558=)
NM_002087.4(GRN):c.1683T>C (p.Ala561=)
NM_002087.4(GRN):c.1686C>T (p.Gly562=)
NM_002087.4(GRN):c.168T>C (p.His56=)
NM_002087.4(GRN):c.1698A>C (p.Ala566=)
NM_002087.4(GRN):c.1707T>C (p.Gly569=)
NM_002087.4(GRN):c.1719G>A (p.Leu573=) rs781110932
NM_002087.4(GRN):c.1731C>T (p.Ala577=)
NM_002087.4(GRN):c.1743C>T (p.Asp581=) rs1442769378
NM_002087.4(GRN):c.1752G>A (p.Leu584=)
NM_002087.4(GRN):c.1764C>T (p.Ala588=)
NM_002087.4(GRN):c.1770A>G (p.Arg590=)
NM_002087.4(GRN):c.186G>A (p.Gln62=)
NM_002087.4(GRN):c.18C>T (p.Ser6=)
NM_002087.4(GRN):c.198C>T (p.His66=)
NM_002087.4(GRN):c.207C>T (p.Ala69=)
NM_002087.4(GRN):c.237G>A (p.Gly79=)
NM_002087.4(GRN):c.240T>C (p.Thr80=) rs748557876
NM_002087.4(GRN):c.243C>T (p.Ser81=)
NM_002087.4(GRN):c.24G>A (p.Val8=)
NM_002087.4(GRN):c.258C>T (p.Phe86=)
NM_002087.4(GRN):c.264+13T>C
NM_002087.4(GRN):c.264+7G>C
NM_002087.4(GRN):c.265-13C>G
NM_002087.4(GRN):c.265-7T>C
NM_002087.4(GRN):c.285C>T (p.Gly95=)
NM_002087.4(GRN):c.291C>T (p.His97=)
NM_002087.4(GRN):c.301C>A (p.Arg101=)
NM_002087.4(GRN):c.321A>C (p.Ala107=) rs1459426505
NM_002087.4(GRN):c.324C>T (p.Asp108=)
NM_002087.4(GRN):c.339C>T (p.Phe113=)
NM_002087.4(GRN):c.349+11G>A
NM_002087.4(GRN):c.349+12G>C
NM_002087.4(GRN):c.349+16G>C rs901525268
NM_002087.4(GRN):c.349+18del
NM_002087.4(GRN):c.349+19T>C
NM_002087.4(GRN):c.350-13A>G
NM_002087.4(GRN):c.350-9T>C
NM_002087.4(GRN):c.351T>G (p.Gly117=) rs2143331256
NM_002087.4(GRN):c.378C>T (p.Cys126=)
NM_002087.4(GRN):c.393C>T (p.Phe131=) rs149180605
NM_002087.4(GRN):c.414G>A (p.Thr138=) rs543344476
NM_002087.4(GRN):c.423T>G (p.Val141=)
NM_002087.4(GRN):c.462+13G>A
NM_002087.4(GRN):c.462+16A>G
NM_002087.4(GRN):c.462+20G>A
NM_002087.4(GRN):c.463-11T>C
NM_002087.4(GRN):c.463-17G>C
NM_002087.4(GRN):c.463-5C>G rs1475553309
NM_002087.4(GRN):c.474T>C (p.Cys158=)
NM_002087.4(GRN):c.480C>T (p.Asp160=)
NM_002087.4(GRN):c.519G>C (p.Leu173=)
NM_002087.4(GRN):c.540A>T (p.Thr180=)
NM_002087.4(GRN):c.549C>T (p.Gly183=) rs2143333571
NM_002087.4(GRN):c.558C>T (p.Pro186=)
NM_002087.4(GRN):c.573C>T (p.Leu191=)
NM_002087.4(GRN):c.582G>A (p.Gln194=)
NM_002087.4(GRN):c.599-10C>T
NM_002087.4(GRN):c.599-11T>A
NM_002087.4(GRN):c.599-18C>T
NM_002087.4(GRN):c.599-8T>C
NM_002087.4(GRN):c.636G>A (p.Arg212=)
NM_002087.4(GRN):c.657T>A (p.Ser219=)
NM_002087.4(GRN):c.657T>C (p.Ser219=)
NM_002087.4(GRN):c.660C>G (p.Thr220=) rs1416699369
NM_002087.4(GRN):c.708+15G>A rs765540363
NM_002087.4(GRN):c.708+20C>T
NM_002087.4(GRN):c.709-5C>T
NM_002087.4(GRN):c.741C>T (p.Cys247=)
NM_002087.4(GRN):c.744C>G (p.Pro248=)
NM_002087.4(GRN):c.744C>T (p.Pro248=)
NM_002087.4(GRN):c.753T>C (p.Thr251=)
NM_002087.4(GRN):c.78C>T (p.Cys26=)
NM_002087.4(GRN):c.795C>T (p.Asn265=)
NM_002087.4(GRN):c.816T>C (p.Thr272=)
NM_002087.4(GRN):c.828G>A (p.Ala276=)
NM_002087.4(GRN):c.836-14T>G
NM_002087.4(GRN):c.836-19CT[2]
NM_002087.4(GRN):c.836-5C>G
NM_002087.4(GRN):c.836-7C>T rs1598364646
NM_002087.4(GRN):c.873A>G (p.Pro291=)
NM_002087.4(GRN):c.873A>T (p.Pro291=) rs2143339424
NM_002087.4(GRN):c.879C>G (p.Gly293=) rs764968816
NM_002087.4(GRN):c.87C>A (p.Ala29=)
NM_002087.4(GRN):c.882T>C (p.Tyr294=) rs794729670
NM_002087.4(GRN):c.895C>T (p.Leu299=)
NM_002087.4(GRN):c.933+10G>A
NM_002087.4(GRN):c.933+16G>A
NM_002087.4(GRN):c.933+7A>T rs1598364800
NM_002087.4(GRN):c.934-12dup
NM_002087.4(GRN):c.934-8del rs1567887447
NM_002087.4(GRN):c.934-9C>T
NM_002087.4(GRN):c.954C>T (p.His318=)
NM_002087.4(GRN):c.96G>C (p.Leu32=)
NM_003793.4(CTSF):c.1140C>G (p.Ser380=) rs143674429
NM_003793.4(CTSF):c.1166-7A>G
NM_003793.4(CTSF):c.1231-13_1231-11del
NM_003793.4(CTSF):c.1296G>A (p.Ala432=)
NM_003793.4(CTSF):c.1314C>T (p.Tyr438=)
NM_003793.4(CTSF):c.1321+9C>T
NM_003793.4(CTSF):c.1322-14G>A
NM_003793.4(CTSF):c.1380+13G>A
NM_003793.4(CTSF):c.1380+19del
NM_003793.4(CTSF):c.15G>T (p.Leu5=)
NM_003793.4(CTSF):c.160C>A (p.Arg54=) rs776443007
NM_003793.4(CTSF):c.171G>C (p.Gly57=)
NM_003793.4(CTSF):c.186G>A (p.Leu62=)
NM_003793.4(CTSF):c.200_205dup (p.Gly67_Arg68dup) rs772656687
NM_003793.4(CTSF):c.258G>A (p.Glu86=)
NM_003793.4(CTSF):c.261A>G (p.Pro87=)
NM_003793.4(CTSF):c.342C>G (p.Leu114=)
NM_003793.4(CTSF):c.42C>G (p.Leu14=)
NM_003793.4(CTSF):c.450T>C (p.Ser150=)
NM_003793.4(CTSF):c.531+15G>C
NM_003793.4(CTSF):c.614G>T (p.Arg205Leu) rs142782021
NM_003793.4(CTSF):c.722-4G>A
NM_003793.4(CTSF):c.867+8C>T
NM_003793.4(CTSF):c.933C>T (p.Asn311=)
NM_003793.4(CTSF):c.972G>A (p.Leu324=)

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