ClinVar Miner

List of variants in gene GRN reported as uncertain significance for adult neuronal ceroid lipofuscinosis

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 235
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002087.4(GRN):c.970G>A (p.Ala324Thr) rs63750541 0.00112
NM_002087.4(GRN):c.1180-3C>T rs368307425 0.00036
NM_002087.4(GRN):c.635G>A (p.Arg212Gln) rs63750787 0.00029
NM_002087.4(GRN):c.1253G>A (p.Arg418Gln) rs63751100 0.00022
NM_002087.4(GRN):c.287A>G (p.His96Arg) rs139272628 0.00018
NM_002087.4(GRN):c.1555G>A (p.Val519Met) rs141111290 0.00010
NM_002087.4(GRN):c.415T>C (p.Cys139Arg) rs763841075 0.00010
NM_002087.4(GRN):c.329G>A (p.Arg110Gln) rs375439809 0.00009
NM_002087.4(GRN):c.497C>T (p.Pro166Leu) rs368705304 0.00009
NM_002087.4(GRN):c.53C>T (p.Thr18Met) rs199572314 0.00009
NM_002087.4(GRN):c.229G>A (p.Val77Ile) rs148531161 0.00008
NM_002087.4(GRN):c.1562G>A (p.Cys521Tyr) rs553119528 0.00006
NM_002087.4(GRN):c.268G>A (p.Val90Met) rs200019356 0.00006
NM_002087.4(GRN):c.361G>A (p.Val121Met) rs780731069 0.00006
NM_002087.4(GRN):c.442G>A (p.Gly148Arg) rs375343686 0.00006
NM_002087.4(GRN):c.56G>A (p.Arg19Gln) rs764665710 0.00006
NM_002087.4(GRN):c.881A>G (p.Tyr294Cys) rs752345618 0.00006
NM_002087.4(GRN):c.128G>A (p.Arg43His) rs766068311 0.00005
NM_002087.4(GRN):c.1540G>A (p.Val514Met) rs142926942 0.00005
NM_002087.4(GRN):c.634C>T (p.Arg212Trp) rs139375860 0.00005
NM_002087.4(GRN):c.803C>T (p.Thr268Met) rs202006119 0.00005
NM_002087.4(GRN):c.1145C>T (p.Thr382Met) rs768333369 0.00004
NM_002087.4(GRN):c.1193C>T (p.Ser398Leu) rs148213321 0.00004
NM_002087.4(GRN):c.1226C>T (p.Thr409Met) rs373885474 0.00004
NM_002087.4(GRN):c.1514C>G (p.Ala505Gly) rs780159686 0.00004
NM_002087.4(GRN):c.1648G>A (p.Val550Ile) rs63750754 0.00004
NM_002087.4(GRN):c.1712A>G (p.Lys571Arg) rs145344570 0.00004
NM_002087.4(GRN):c.1721G>A (p.Arg574His) rs756117423 0.00004
NM_002087.4(GRN):c.1112G>C (p.Ser371Thr) rs149023078 0.00003
NM_002087.4(GRN):c.1294C>T (p.Arg432Cys) rs63750130 0.00003
NM_002087.4(GRN):c.302G>A (p.Arg101Gln) rs201686997 0.00003
NM_002087.4(GRN):c.662G>C (p.Cys221Ser) rs758322775 0.00003
NM_002087.4(GRN):c.827C>T (p.Ala276Val) rs202178902 0.00003
NM_002087.4(GRN):c.861G>C (p.Glu287Asp) rs63750565 0.00003
NM_002087.4(GRN):c.103G>A (p.Gly35Arg) rs533451404 0.00002
NM_002087.4(GRN):c.1373C>T (p.Pro458Leu) rs63750537 0.00002
NM_002087.4(GRN):c.139-3T>C rs371119011 0.00002
NM_002087.4(GRN):c.1433G>A (p.Arg478His) rs140747584 0.00002
NM_002087.4(GRN):c.157C>G (p.Leu53Val) rs906652114 0.00002
NM_002087.4(GRN):c.1663C>T (p.Arg555Trp) rs768297331 0.00002
NM_002087.4(GRN):c.208G>A (p.Gly70Ser) rs772381732 0.00002
NM_002087.4(GRN):c.238A>T (p.Thr80Ser) rs1022228740 0.00002
NM_002087.4(GRN):c.325G>A (p.Gly109Arg) rs766292113 0.00002
NM_002087.4(GRN):c.421G>A (p.Val141Ile) rs63749853 0.00002
NM_002087.4(GRN):c.502G>A (p.Gly168Ser) rs753070659 0.00002
NM_002087.4(GRN):c.530G>A (p.Arg177His) rs753441122 0.00002
NM_002087.4(GRN):c.836-3C>T rs771907059 0.00002
NM_002087.4(GRN):c.989C>T (p.Thr330Met) rs376059429 0.00002
NM_002087.4(GRN):c.100C>T (p.Pro34Ser) rs748147151 0.00001
NM_002087.4(GRN):c.1019A>T (p.His340Leu) rs775196555 0.00001
NM_002087.4(GRN):c.1080G>C (p.Leu360Phe) rs1480952239 0.00001
NM_002087.4(GRN):c.1138C>G (p.Gln380Glu) rs748829798 0.00001
NM_002087.4(GRN):c.1197C>A (p.Asp399Glu) rs956013468 0.00001
NM_002087.4(GRN):c.1241G>T (p.Gly414Val) rs63750920 0.00001
NM_002087.4(GRN):c.1243C>G (p.Gln415Glu) rs775888774 0.00001
NM_002087.4(GRN):c.1244A>T (p.Gln415Leu) rs749595402 0.00001
NM_002087.4(GRN):c.1288C>G (p.Pro430Ala) rs200645022 0.00001
NM_002087.4(GRN):c.1352C>T (p.Pro451Leu) rs752428000 0.00001
NM_002087.4(GRN):c.1357G>A (p.Gly453Arg) rs751072702 0.00001
NM_002087.4(GRN):c.1409C>T (p.Pro470Leu) rs63750007 0.00001
NM_002087.4(GRN):c.1432C>T (p.Arg478Cys) rs781387612 0.00001
NM_002087.4(GRN):c.1448C>T (p.Pro483Leu) rs774128685 0.00001
NM_002087.4(GRN):c.1460C>T (p.Thr487Ile) rs772784579 0.00001
NM_002087.4(GRN):c.1486G>A (p.Glu496Lys) rs764615963 0.00001
NM_002087.4(GRN):c.1604G>A (p.Arg535Gln) rs753857985 0.00001
NM_002087.4(GRN):c.1735C>T (p.Arg579Cys) rs748764855 0.00001
NM_002087.4(GRN):c.1736G>A (p.Arg579His) rs373138049 0.00001
NM_002087.4(GRN):c.22G>A (p.Val8Met) rs774367010 0.00001
NM_002087.4(GRN):c.250T>C (p.Cys84Arg) rs1598362876 0.00001
NM_002087.4(GRN):c.254C>T (p.Pro85Leu) rs1275075189 0.00001
NM_002087.4(GRN):c.280G>A (p.Asp94Asn) rs375678079 0.00001
NM_002087.4(GRN):c.394G>A (p.Glu132Lys) rs770662203 0.00001
NM_002087.4(GRN):c.529C>T (p.Arg177Cys) rs751651838 0.00001
NM_002087.4(GRN):c.568A>C (p.Lys190Gln) rs768727709 0.00001
NM_002087.4(GRN):c.58T>C (p.Cys20Arg) rs542613543 0.00001
NM_002087.4(GRN):c.620T>C (p.Met207Thr) rs776198499 0.00001
NM_002087.4(GRN):c.627G>A (p.Pro209=) rs374385285 0.00001
NM_002087.4(GRN):c.62C>T (p.Pro21Leu) rs745947095 0.00001
NM_002087.4(GRN):c.892C>T (p.Arg298Cys) rs768033215 0.00001
NM_002087.4(GRN):c.902C>T (p.Ser301Leu) rs1026683055 0.00001
NM_002087.4(GRN):c.-8+5G>A
NM_002087.4(GRN):c.1001C>T (p.Thr334Ile)
NM_002087.4(GRN):c.1004G>A (p.Cys335Tyr)
NM_002087.4(GRN):c.1006G>C (p.Glu336Gln)
NM_002087.4(GRN):c.1011G>C (p.Gln337His)
NM_002087.4(GRN):c.1019A>G (p.His340Arg) rs775196555
NM_002087.4(GRN):c.101C>A (p.Pro34His)
NM_002087.4(GRN):c.1036_1038del (p.Glu346del) rs751373342
NM_002087.4(GRN):c.1059C>G (p.Ser353Arg)
NM_002087.4(GRN):c.1076C>T (p.Ala359Val)
NM_002087.4(GRN):c.1102_1104del (p.Asn368del)
NM_002087.4(GRN):c.110C>T (p.Ala37Val) rs1248005591
NM_002087.4(GRN):c.1117C>A (p.Pro373Thr)
NM_002087.4(GRN):c.1120TCC[1] (p.Ser375del) rs754862784
NM_002087.4(GRN):c.1152G>T (p.Gly384=) rs2143342232
NM_002087.4(GRN):c.1179+4_1179+8del rs752440929
NM_002087.4(GRN):c.1179G>C (p.Glu393Asp)
NM_002087.4(GRN):c.1204C>G (p.His402Asp)
NM_002087.4(GRN):c.1213C>T (p.Pro405Ser)
NM_002087.4(GRN):c.1240G>A (p.Gly414Arg)
NM_002087.4(GRN):c.1253G>C (p.Arg418Pro)
NM_002087.4(GRN):c.1259G>A (p.Ser420Asn)
NM_002087.4(GRN):c.1260C>G (p.Ser420Arg)
NM_002087.4(GRN):c.1261G>A (p.Glu421Lys) rs199934385
NM_002087.4(GRN):c.1267G>A (p.Val423Met)
NM_002087.4(GRN):c.1295G>A (p.Arg432His)
NM_002087.4(GRN):c.1316C>G (p.Pro439Arg)
NM_002087.4(GRN):c.1326C>G (p.Ile442Met)
NM_002087.4(GRN):c.1327G>C (p.Gly443Arg)
NM_002087.4(GRN):c.1337A>T (p.Gln446Leu)
NM_002087.4(GRN):c.1343C>T (p.Thr448Ile)
NM_002087.4(GRN):c.1347C>G (p.Ser449Arg)
NM_002087.4(GRN):c.1353G>A (p.Pro451=)
NM_002087.4(GRN):c.1354_1374del (p.Val452_Pro458del)
NM_002087.4(GRN):c.1355T>A (p.Val452Glu) rs759134554
NM_002087.4(GRN):c.1355T>C (p.Val452Ala)
NM_002087.4(GRN):c.1373C>G (p.Pro458Arg) rs63750537
NM_002087.4(GRN):c.139G>A (p.Asp47Asn) rs1239690384
NM_002087.4(GRN):c.1413T>C (p.His471=)
NM_002087.4(GRN):c.1423T>C (p.Cys475Arg)
NM_002087.4(GRN):c.1426G>A (p.Glu476Lys)
NM_002087.4(GRN):c.1438C>T (p.His480Tyr) rs770058074
NM_002087.4(GRN):c.1464C>T (p.Cys488=) rs1253276640
NM_002087.4(GRN):c.1468G>A (p.Val490Met) rs886053006
NM_002087.4(GRN):c.147G>C (p.Trp49Cys)
NM_002087.4(GRN):c.1483T>C (p.Cys495Arg)
NM_002087.4(GRN):c.1499T>C (p.Val500Ala) rs1256051695
NM_002087.4(GRN):c.149C>T (p.Pro50Leu)
NM_002087.4(GRN):c.1510C>G (p.Pro504Ala) rs1313083314
NM_002087.4(GRN):c.1511C>T (p.Pro504Leu)
NM_002087.4(GRN):c.1528C>T (p.Arg510Cys)
NM_002087.4(GRN):c.1529G>A (p.Arg510His)
NM_002087.4(GRN):c.1561T>G (p.Cys521Gly)
NM_002087.4(GRN):c.1570G>C (p.Gly524Arg)
NM_002087.4(GRN):c.1571G>T (p.Gly524Val)
NM_002087.4(GRN):c.1595C>A (p.Thr532Asn)
NM_002087.4(GRN):c.1600T>A (p.Cys534Ser)
NM_002087.4(GRN):c.1603C>T (p.Arg535Ter)
NM_002087.4(GRN):c.1606G>A (p.Asp536Asn)
NM_002087.4(GRN):c.160A>G (p.Ser54Gly) rs2143326730
NM_002087.4(GRN):c.1613G>A (p.Arg538Gln)
NM_002087.4(GRN):c.1630T>C (p.Cys544Arg)
NM_002087.4(GRN):c.1639C>T (p.Arg547Cys)
NM_002087.4(GRN):c.1642C>T (p.Gln548Ter)
NM_002087.4(GRN):c.1664G>A (p.Arg555Gln)
NM_002087.4(GRN):c.1669C>T (p.His557Tyr) rs1415695846
NM_002087.4(GRN):c.1690C>T (p.Arg564Cys)
NM_002087.4(GRN):c.1691G>A (p.Arg564His) rs971443926
NM_002087.4(GRN):c.1696G>A (p.Ala566Thr)
NM_002087.4(GRN):c.1706G>A (p.Gly569Asp)
NM_002087.4(GRN):c.1708A>G (p.Thr570Ala)
NM_002087.4(GRN):c.170T>G (p.Leu57Arg) rs545762769
NM_002087.4(GRN):c.1720C>T (p.Arg574Cys)
NM_002087.4(GRN):c.1725_1726delinsAA (p.Glu576Lys)
NM_002087.4(GRN):c.1730C>T (p.Ala577Val)
NM_002087.4(GRN):c.1733C>T (p.Pro578Leu)
NM_002087.4(GRN):c.1734G>A (p.Pro578=)
NM_002087.4(GRN):c.1744G>A (p.Ala582Thr)
NM_002087.4(GRN):c.1759C>T (p.Pro587Ser)
NM_002087.4(GRN):c.176G>C (p.Gly59Ala)
NM_002087.4(GRN):c.1775T>C (p.Leu592Pro)
NM_002087.4(GRN):c.182G>A (p.Cys61Tyr)
NM_002087.4(GRN):c.18C>G (p.Ser6Arg)
NM_002087.4(GRN):c.190G>A (p.Asp64Asn)
NM_002087.4(GRN):c.19T>G (p.Trp7Gly)
NM_002087.4(GRN):c.206C>A (p.Ala69Asp)
NM_002087.4(GRN):c.212A>G (p.His71Arg)
NM_002087.4(GRN):c.215C>T (p.Ser72Phe)
NM_002087.4(GRN):c.258C>G (p.Phe86Leu)
NM_002087.4(GRN):c.263A>C (p.Glu88Ala)
NM_002087.4(GRN):c.264+3G>T
NM_002087.4(GRN):c.264+6C>T
NM_002087.4(GRN):c.26C>T (p.Ala9Val)
NM_002087.4(GRN):c.277G>A (p.Gly93Arg)
NM_002087.4(GRN):c.278G>A (p.Gly93Glu)
NM_002087.4(GRN):c.301C>T (p.Arg101Trp) rs543578531
NM_002087.4(GRN):c.305G>A (p.Gly102Asp)
NM_002087.4(GRN):c.30A>C (p.Leu10Phe)
NM_002087.4(GRN):c.332C>T (p.Ser111Phe) rs1354832051
NM_002087.4(GRN):c.348A>C (p.Ser116=)
NM_002087.4(GRN):c.349+15T>A
NM_002087.4(GRN):c.350G>A (p.Gly117Asp) rs758131649
NM_002087.4(GRN):c.352AAC[1] (p.Asn119del) rs758168578
NM_002087.4(GRN):c.379C>G (p.Pro127Ala)
NM_002087.4(GRN):c.393C>A (p.Phe131Leu)
NM_002087.4(GRN):c.401C>T (p.Pro134Leu)
NM_002087.4(GRN):c.406T>G (p.Phe136Val)
NM_002087.4(GRN):c.413C>T (p.Thr138Met)
NM_002087.4(GRN):c.427G>T (p.Val143Phe) rs1194653265
NM_002087.4(GRN):c.456_457delinsAT (p.Met152_Pro153delinsIleSer) rs2143332050
NM_002087.4(GRN):c.463-5C>G rs1475553309
NM_002087.4(GRN):c.47C>T (p.Ala16Val)
NM_002087.4(GRN):c.487C>T (p.His163Tyr)
NM_002087.4(GRN):c.493T>C (p.Cys165Arg) rs2143333047
NM_002087.4(GRN):c.50G>C (p.Gly17Ala)
NM_002087.4(GRN):c.520G>A (p.Val174Ile)
NM_002087.4(GRN):c.545C>G (p.Thr182Arg)
NM_002087.4(GRN):c.549C>T (p.Gly183=) rs2143333571
NM_002087.4(GRN):c.554A>G (p.His185Arg)
NM_002087.4(GRN):c.562G>A (p.Ala188Thr)
NM_002087.4(GRN):c.591C>G (p.Asn197Lys)
NM_002087.4(GRN):c.614C>T (p.Ser205Leu)
NM_002087.4(GRN):c.632C>T (p.Ala211Val)
NM_002087.4(GRN):c.640C>T (p.Arg214Trp)
NM_002087.4(GRN):c.641G>A (p.Arg214Gln) rs1211576020
NM_002087.4(GRN):c.650A>T (p.Asp217Val)
NM_002087.4(GRN):c.658A>G (p.Thr220Ala) rs63750683
NM_002087.4(GRN):c.665G>A (p.Cys222Tyr)
NM_002087.4(GRN):c.673C>T (p.Pro225Ser)
NM_002087.4(GRN):c.680G>A (p.Gly227Glu)
NM_002087.4(GRN):c.685T>C (p.Tyr229His)
NM_002087.4(GRN):c.752C>G (p.Thr251Ser)
NM_002087.4(GRN):c.773G>A (p.Ser258Asn) rs63751000
NM_002087.4(GRN):c.781C>T (p.Leu261Phe)
NM_002087.4(GRN):c.784T>C (p.Ser262Pro)
NM_002087.4(GRN):c.796G>A (p.Ala266Thr) rs747362041
NM_002087.4(GRN):c.796G>C (p.Ala266Pro) rs747362041
NM_002087.4(GRN):c.797C>T (p.Ala266Val)
NM_002087.4(GRN):c.7A>G (p.Thr3Ala) rs2048347394
NM_002087.4(GRN):c.808C>T (p.Leu270Phe) rs1567887059
NM_002087.4(GRN):c.817A>G (p.Lys273Glu)
NM_002087.4(GRN):c.824C>T (p.Pro275Leu)
NM_002087.4(GRN):c.857T>C (p.Met286Thr)
NM_002087.4(GRN):c.86C>T (p.Ala29Val)
NM_002087.4(GRN):c.879C>G (p.Gly293=) rs764968816
NM_002087.4(GRN):c.893G>A (p.Arg298His)
NM_002087.4(GRN):c.8C>G (p.Thr3Ser) rs375939802
NM_002087.4(GRN):c.8C>T (p.Thr3Ile)
NM_002087.4(GRN):c.932A>T (p.Gln311Leu)
NM_002087.4(GRN):c.933+5C>G
NM_002087.4(GRN):c.933+5C>T
NM_002087.4(GRN):c.935C>T (p.Ala312Val)
NM_002087.4(GRN):c.980C>T (p.Thr327Met)
NM_002087.4(GRN):c.998G>T (p.Gly333Val)
NM_002087.4(GRN):c.99C>A (p.Asp33Glu) rs63750742

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.