ClinVar Miner

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

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 465
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HGVS dbSNP gnomAD frequency
NM_001909.5(CTSD):c.912G>A (p.Pro304=) rs140238987 0.00281
NM_001909.5(CTSD):c.*509C>T rs780680894 0.00255
NM_001909.5(CTSD):c.639C>G (p.Pro213=) rs146073498 0.00197
NM_017882.3(CLN6):c.923G>C (p.Ser308Thr) rs143578698 0.00169
NM_001909.5(CTSD):c.*210C>G rs528911846 0.00156
NM_025219.3(DNAJC5):c.*158A>T rs41278210 0.00148
NM_017882.3(CLN6):c.53C>T (p.Ala18Val) rs547125345 0.00120
NM_001909.5(CTSD):c.*694G>A rs751538234 0.00116
NM_025219.3(DNAJC5):c.*1220G>A rs73136582 0.00115
NM_002087.4(GRN):c.970G>A (p.Ala324Thr) rs63750541 0.00112
NM_003793.4(CTSF):c.683C>G (p.Thr228Arg) rs148611356 0.00105
NM_025219.3(DNAJC5):c.-109A>G rs750302498 0.00102
NM_025219.3(DNAJC5):c.*736G>A rs552739074 0.00078
NM_001909.5(CTSD):c.8C>T (p.Pro3Leu) rs757712173 0.00067
NM_025219.3(DNAJC5):c.*3480G>C rs577249426 0.00060
NM_017882.3(CLN6):c.5A>G (p.Glu2Gly) rs3743088 0.00042
NM_001909.5(CTSD):c.827+13T>C rs369602025 0.00036
NM_002087.4(GRN):c.1180-3C>T rs368307425 0.00036
NM_001909.5(CTSD):c.1071+12A>G rs113936232 0.00034
NM_001909.5(CTSD):c.*736C>G rs577842141 0.00032
NM_001909.5(CTSD):c.1071+7G>A rs374010531 0.00029
NM_002087.4(GRN):c.635G>A (p.Arg212Gln) rs63750787 0.00029
NM_003793.4(CTSF):c.1315G>A (p.Gly439Ser) rs140795906 0.00028
NM_025219.3(DNAJC5):c.*274C>T rs762734761 0.00028
NM_001909.5(CTSD):c.154G>A (p.Val52Ile) rs143517230 0.00026
NM_001909.5(CTSD):c.1009G>A (p.Ala337Thr) rs147800688 0.00025
NM_025219.3(DNAJC5):c.*4387C>G rs550273913 0.00023
NM_001909.5(CTSD):c.*358C>T rs542969755 0.00022
NM_002087.4(GRN):c.1253G>A (p.Arg418Gln) rs63751100 0.00022
NM_001909.5(CTSD):c.240C>T (p.Tyr80=) rs147641822 0.00019
NM_003793.4(CTSF):c.19C>T (p.Leu7Phe) rs544669445 0.00019
NM_002087.4(GRN):c.287A>G (p.His96Arg) rs139272628 0.00018
NM_025219.3(DNAJC5):c.*3839G>A rs145028189 0.00017
NM_025219.3(DNAJC5):c.*1182C>T rs753503517 0.00015
NM_001909.5(CTSD):c.*403C>T rs140852332 0.00014
NM_001909.5(CTSD):c.*494C>T rs551867617 0.00014
NM_025219.3(DNAJC5):c.*3116T>A rs886056949 0.00014
NM_001909.5(CTSD):c.1162G>A (p.Val388Ile) rs202073338 0.00013
NM_025219.3(DNAJC5):c.*3375C>T rs886056951 0.00013
NM_001909.5(CTSD):c.90G>A (p.Thr30=) rs368529527 0.00012
NM_017882.3(CLN6):c.41G>A (p.Gly14Asp) rs994590268 0.00011
NM_025219.3(DNAJC5):c.*3213G>A rs902946721 0.00011
NM_025219.3(DNAJC5):c.*3550C>T rs546308193 0.00011
NM_001909.5(CTSD):c.14G>C (p.Ser5Thr) rs764386803 0.00010
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_025219.3(DNAJC5):c.*2933C>T rs886056946 0.00010
NM_001909.5(CTSD):c.-24C>T rs587780917 0.00009
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_025219.3(DNAJC5):c.*4036G>A rs758582743 0.00009
NM_001909.5(CTSD):c.*130G>A rs1002940636 0.00008
NM_002087.4(GRN):c.229G>A (p.Val77Ile) rs148531161 0.00008
NM_025219.3(DNAJC5):c.*1557T>G rs542172964 0.00008
NM_025219.3(DNAJC5):c.*322G>A rs143646564 0.00008
NM_001909.5(CTSD):c.*398G>A rs776662882 0.00007
NM_025219.3(DNAJC5):c.-186C>T rs886056927 0.00007
NM_025219.3(DNAJC5):c.565C>T (p.His189Tyr) rs377119075 0.00007
NM_001909.5(CTSD):c.1084G>A (p.Gly362Arg) rs746733183 0.00006
NM_001909.5(CTSD):c.926G>A (p.Arg309His) rs374540411 0.00006
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_003793.4(CTSF):c.1100A>G (p.Asn367Ser) rs201500574 0.00006
NM_003793.4(CTSF):c.1243G>A (p.Gly415Arg) rs200426008 0.00006
NM_017882.3(CLN6):c.297+113G>C rs553192210 0.00006
NM_017882.3(CLN6):c.728C>T (p.Ala243Val) rs767164948 0.00006
NM_025219.3(DNAJC5):c.*1927G>A rs187307345 0.00006
NM_025219.3(DNAJC5):c.*276C>T rs764108980 0.00006
NM_025219.3(DNAJC5):c.-95G>C rs886056932 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_003793.4(CTSF):c.1237C>T (p.Arg413Cys) rs779164010 0.00005
NM_025219.3(DNAJC5):c.*1934T>G rs768056284 0.00005
NM_001909.5(CTSD):c.*117C>T rs527778631 0.00004
NM_001909.5(CTSD):c.*390G>A rs1262477522 0.00004
NM_001909.5(CTSD):c.1183A>G (p.Thr395Ala) rs778724059 0.00004
NM_001909.5(CTSD):c.283G>A (p.Val95Ile) rs141482597 0.00004
NM_001909.5(CTSD):c.470C>T (p.Ser157Leu) rs587779409 0.00004
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.698C>A (p.Pro233Gln) rs63750455 0.00004
NM_017882.3(CLN6):c.601A>G (p.Lys201Glu) rs587780316 0.00004
NM_017882.3(CLN6):c.754C>T (p.Arg252Cys) rs145746878 0.00004
NM_017882.3(CLN6):c.755G>A (p.Arg252His) rs374681194 0.00004
NM_025219.3(DNAJC5):c.*1304G>A rs865818369 0.00004
NM_025219.3(DNAJC5):c.*2171G>A rs185288496 0.00004
NM_025219.3(DNAJC5):c.*2993C>T rs886056947 0.00004
NM_001909.5(CTSD):c.*654C>T rs148490566 0.00003
NM_001909.5(CTSD):c.-37G>A rs756112449 0.00003
NM_001909.5(CTSD):c.817C>T (p.His273Tyr) rs145905196 0.00003
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_003793.4(CTSF):c.1253G>A (p.Arg418His) rs141345438 0.00003
NM_003793.4(CTSF):c.613C>T (p.Arg205Trp) rs568250930 0.00003
NM_017882.3(CLN6):c.13C>T (p.Arg5Trp) rs886285802 0.00003
NM_017882.3(CLN6):c.446G>A (p.Arg149His) rs154774638 0.00003
NM_017882.3(CLN6):c.662A>C (p.Tyr221Ser) rs764571295 0.00003
NM_025219.3(DNAJC5):c.*1391G>A rs886056944 0.00003
NM_025219.3(DNAJC5):c.-185G>T rs886056928 0.00003
NM_001909.5(CTSD):c.*356C>G rs886048062 0.00002
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_003793.4(CTSF):c.587G>A (p.Arg196Gln) rs143814748 0.00002
NM_017882.3(CLN6):c.308G>A (p.Arg103Gln) rs154774634 0.00002
NM_017882.3(CLN6):c.482C>T (p.Thr161Met) rs757734645 0.00002
NM_017882.3(CLN6):c.49G>A (p.Gly17Ser) rs763944821 0.00002
NM_025219.3(DNAJC5):c.*1915C>T rs1044082802 0.00002
NM_025219.3(DNAJC5):c.*2633G>A rs533825911 0.00002
NM_025219.3(DNAJC5):c.*286G>A rs886056940 0.00002
NM_025219.3(DNAJC5):c.*3870G>A rs886056953 0.00002
NM_025219.3(DNAJC5):c.*4317G>A rs911426732 0.00002
NM_025219.3(DNAJC5):c.162G>A (p.Ala54=) rs781164296 0.00002
NM_025219.3(DNAJC5):c.437C>T (p.Thr146Met) rs779453928 0.00002
NM_025219.3(DNAJC5):c.444C>T (p.Phe148=) rs772254851 0.00002
NM_001909.5(CTSD):c.*200C>G rs1176741600 0.00001
NM_001909.5(CTSD):c.*330G>T rs955942954 0.00001
NM_001909.5(CTSD):c.-3G>T rs541792699 0.00001
NM_001909.5(CTSD):c.-47A>G rs886048067 0.00001
NM_001909.5(CTSD):c.1222G>A (p.Glu408Lys) rs554062876 0.00001
NM_001909.5(CTSD):c.1232G>A (p.Arg411His) rs200303993 0.00001
NM_001909.5(CTSD):c.716C>T (p.Ala239Val) rs759564989 0.00001
NM_001909.5(CTSD):c.946G>A (p.Gly316Arg) rs764766572 0.00001
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_003793.4(CTSF):c.1028C>T (p.Ser343Leu) rs200646712 0.00001
NM_003793.4(CTSF):c.722-3C>A rs1857927546 0.00001
NM_017882.3(CLN6):c.184C>T (p.Arg62Cys) rs1451777867 0.00001
NM_017882.3(CLN6):c.255C>G (p.Phe85Leu) rs545955828 0.00001
NM_017882.3(CLN6):c.304G>A (p.Glu102Lys) rs796052352 0.00001
NM_017882.3(CLN6):c.317G>A (p.Arg106His) rs781133812 0.00001
NM_017882.3(CLN6):c.407G>A (p.Arg136His) rs769701646 0.00001
NM_017882.3(CLN6):c.509A>G (p.Tyr170Cys) rs750081097 0.00001
NM_017882.3(CLN6):c.679G>A (p.Glu227Lys) rs746753722 0.00001
NM_017882.3(CLN6):c.898T>C (p.Trp300Arg) rs750937323 0.00001
NM_025219.3(DNAJC5):c.*1137A>G rs886056943 0.00001
NM_025219.3(DNAJC5):c.*1873C>T rs1349641328 0.00001
NM_025219.3(DNAJC5):c.*1893C>A rs1315620182 0.00001
NM_025219.3(DNAJC5):c.*2545C>G rs577579444 0.00001
NM_025219.3(DNAJC5):c.*4057C>T rs886056954 0.00001
NM_025219.3(DNAJC5):c.*4375C>T rs1465625052 0.00001
NM_025219.3(DNAJC5):c.*686C>T rs886056942 0.00001
NM_025219.3(DNAJC5):c.*80A>G rs886056936 0.00001
NM_025219.3(DNAJC5):c.*944A>T rs774407862 0.00001
NM_025219.3(DNAJC5):c.-12+11T>A rs1216840252 0.00001
NC_000017.11:g.(?_44027807)_(44352876_?)dup
NM_001909.5(CTSD):c.*133G>A rs1276388326
NM_001909.5(CTSD):c.*342C>T rs1050822
NM_001909.5(CTSD):c.*375A>G rs916854972
NM_001909.5(CTSD):c.*555C>A rs539003212
NM_001909.5(CTSD):c.*574C>T rs886048061
NM_001909.5(CTSD):c.*58C>T rs886048063
NM_001909.5(CTSD):c.*651C>T rs991617803
NM_001909.5(CTSD):c.*98G>A rs376087786
NM_001909.5(CTSD):c.1034A>G (p.Lys345Arg) rs1845759906
NM_001909.5(CTSD):c.1119G>C (p.Met373Ile) rs796052398
NM_001909.5(CTSD):c.111G>C (p.Ser37=) rs535140505
NM_001909.5(CTSD):c.285C>T (p.Val95=) rs1845849997
NM_001909.5(CTSD):c.315C>A (p.Val105=) rs1845849420
NM_001909.5(CTSD):c.49C>T (p.Pro17Ser) rs1845913488
NM_001909.5(CTSD):c.566C>T (p.Thr189Ile) rs1554962634
NM_001909.5(CTSD):c.659A>C (p.Gln220Pro) rs886048066
NM_001909.5(CTSD):c.660G>C (p.Gln220His) rs762797920
NM_001909.5(CTSD):c.928G>A (p.Glu310Lys) rs373699222
NM_001909.5(CTSD):c.940G>A (p.Ala314Thr) rs886048065
NM_001909.5(CTSD):c.973-8C>A rs886048064
NM_001909.5(CTSD):c.999C>A (p.Ser333=) rs755867394
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.691T>C (p.Cys231Arg)
NM_002087.4(GRN):c.694T>C (p.Cys232Arg)
NM_002087.4(GRN):c.701T>G (p.Met234Arg) rs2143335468
NM_002087.4(GRN):c.708+2dup rs2143335568
NM_002087.4(GRN):c.713C>T (p.Thr238Ile)
NM_002087.4(GRN):c.716G>T (p.Cys239Phe)
NM_002087.4(GRN):c.724G>C (p.Asp242His)
NM_002087.4(GRN):c.743C>T (p.Pro248Leu) rs63750344
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
NM_003793.4(CTSF):c.1069T>C (p.Tyr357His)
NM_003793.4(CTSF):c.109C>G (p.Pro37Ala)
NM_003793.4(CTSF):c.1175C>T (p.Ala392Val)
NM_003793.4(CTSF):c.1198A>G (p.Ile400Val)
NM_003793.4(CTSF):c.1267C>T (p.Leu423Phe)
NM_003793.4(CTSF):c.1285A>G (p.Ile429Val)
NM_003793.4(CTSF):c.133T>C (p.Phe45Leu)
NM_003793.4(CTSF):c.1350del (p.Asn451fs) rs1565311637
NM_003793.4(CTSF):c.1399C>T (p.Arg467Cys)
NM_003793.4(CTSF):c.160C>A (p.Arg54=) rs776443007
NM_003793.4(CTSF):c.206T>G (p.Val69Gly)
NM_003793.4(CTSF):c.245_256del (p.Ala82_Glu85del)
NM_003793.4(CTSF):c.280G>A (p.Val94Met)
NM_003793.4(CTSF):c.473A>G (p.Asn158Ser)
NM_003793.4(CTSF):c.614G>A (p.Arg205Gln) rs142782021
NM_003793.4(CTSF):c.64G>T (p.Ala22Ser)
NM_003793.4(CTSF):c.76G>C (p.Ala26Pro)
NM_003793.4(CTSF):c.888G>T (p.Trp296Cys)
NM_003793.4(CTSF):c.955T>G (p.Ser319Ala) rs1857917135
NM_003793.4(CTSF):c.956C>T (p.Ser319Phe)
NM_003793.4(CTSF):c.988G>A (p.Asp330Asn) rs750069810
NM_017882.3(CLN6):c.139C>T (p.Leu47Phe) rs154774635
NM_017882.3(CLN6):c.158T>G (p.Leu53Arg)
NM_017882.3(CLN6):c.349ATC[2] (p.Ile119del) rs886051447
NM_017882.3(CLN6):c.373A>G (p.Ser125Gly) rs772893554
NM_017882.3(CLN6):c.437T>C (p.Leu146Pro) rs1595818249
NM_017882.3(CLN6):c.443T>A (p.Val148Asp) rs1555438678
NM_017882.3(CLN6):c.506T>C (p.Leu169Pro) rs1344658850
NM_017882.3(CLN6):c.587G>T (p.Cys196Phe) rs2093199089
NM_017882.3(CLN6):c.659A>C (p.Tyr220Ser) rs2093198812
NM_017882.3(CLN6):c.662A>G (p.Tyr221Cys) rs764571295
NM_017882.3(CLN6):c.702C>A (p.Phe234Leu) rs1555438267
NM_017882.3(CLN6):c.723G>T (p.Met241Ile) rs149262877
NM_017882.3(CLN6):c.775G>C (p.Gly259Arg) rs150363441
NM_017882.3(CLN6):c.775G>T (p.Gly259Cys) rs150363441
NM_017882.3(CLN6):c.883T>C (p.Tyr295His)
NM_017882.3(CLN6):c.909C>A (p.Tyr303Ter) rs1448520404
NM_017882.3(CLN6):c.919G>A (p.Val307Ile) rs146801142
NM_025219.3(DNAJC5):c.*135C>T rs886056937
NM_025219.3(DNAJC5):c.*1391G>C rs886056944
NM_025219.3(DNAJC5):c.*177T>C rs2053674149
NM_025219.3(DNAJC5):c.*1836C>T rs752208413
NM_025219.3(DNAJC5):c.*1895C>G rs886056945
NM_025219.3(DNAJC5):c.*2191G>C rs550048168
NM_025219.3(DNAJC5):c.*2385G>T rs2053695885
NM_025219.3(DNAJC5):c.*243G>A rs886056938
NM_025219.3(DNAJC5):c.*2482G>C rs1300822328
NM_025219.3(DNAJC5):c.*273C>G rs886056939
NM_025219.3(DNAJC5):c.*2849A>G rs978741488
NM_025219.3(DNAJC5):c.*2913G>A rs539536316
NM_025219.3(DNAJC5):c.*2980C>A rs1600892537
NM_025219.3(DNAJC5):c.*2983C>T rs1251113332
NM_025219.3(DNAJC5):c.*298C>T rs915298444
NM_025219.3(DNAJC5):c.*3009G>A rs886056948
NM_025219.3(DNAJC5):c.*3184G>A rs185738914
NM_025219.3(DNAJC5):c.*3215C>G rs999925805
NM_025219.3(DNAJC5):c.*3224C>T rs2053704300
NM_025219.3(DNAJC5):c.*3239C>T rs886056950
NM_025219.3(DNAJC5):c.*3252G>A rs545688443
NM_025219.3(DNAJC5):c.*3608G>C rs2053707906
NM_025219.3(DNAJC5):c.*4070C>T rs3810500
NM_025219.3(DNAJC5):c.*412C>T rs886056941
NM_025219.3(DNAJC5):c.*4253C>G rs886056955
NM_025219.3(DNAJC5):c.*458G>A rs941396645
NM_025219.3(DNAJC5):c.*486G>A rs2053677825
NM_025219.3(DNAJC5):c.*66C>T rs2053672735
NM_025219.3(DNAJC5):c.*853C>A rs6011230
NM_025219.3(DNAJC5):c.*853C>T rs6011230
NM_025219.3(DNAJC5):c.*948G>A rs867566418
NM_025219.3(DNAJC5):c.-12+15G>T rs2053366716
NM_025219.3(DNAJC5):c.-194C>T rs886056925
NM_025219.3(DNAJC5):c.-89C>G rs886056933
NM_025219.3(DNAJC5):c.107+8G>T rs2053633876
NM_025219.3(DNAJC5):c.153G>T (p.Pro51=) rs151265913
NM_025219.3(DNAJC5):c.438G>A (p.Thr146=) rs746222594
NM_025219.3(DNAJC5):c.482C>G (p.Ser161Cys)
NM_025219.3(DNAJC5):c.493+1dup
NM_025219.3(DNAJC5):c.504C>T (p.Asp168=) rs886056935

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