ClinVar Miner

List of variants reported as benign for cerebral lipidosis with dementia

Included ClinVar conditions (32):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 342
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HGVS dbSNP gnomAD frequency
NM_000391.4(TPP1):c.1075+28T>C rs7943955 0.98952
NM_000521.4(HEXB):c.185T>C (p.Leu62Ser) rs820878 0.97243
NM_000157.4(GBA1):c.1225-34C>A rs3115534 0.94932
NM_000521.4(HEXB):c.558+45G>A rs1665894 0.89050
NM_000520.6(HEXA):c.1306A>G (p.Ile436Val) rs1800431 0.87890
NM_000520.6(HEXA):c.1518A>G (p.Glu506=) rs4777502 0.87885
NM_022089.4(ATP13A2):c.1195+66A>G rs9435736 0.80687
NM_000391.4(TPP1):c.*1628G>A rs7488 0.76311
NM_000520.6(HEXA):c.*589T>G rs11629508 0.73205
NM_000520.6(HEXA):c.*515G>A rs3087652 0.73188
NM_003793.4(CTSF):c.1401T>C (p.Arg467=) rs572846 0.62182
NM_003793.4(CTSF):c.762G>A (p.Arg254=) rs545009 0.62158
NM_003793.4(CTSF):c.219T>C (p.Gly73=) rs1127894 0.62142
NM_017882.3(CLN6):c.198+104T>C rs8025947 0.57324
NM_022089.4(ATP13A2):c.705+228A>G rs2871776 0.56136
NM_000521.4(HEXB):c.-126C>T rs71627068 0.55186
NM_000521.4(HEXB):c.-122del rs70976124 0.55177
NM_022089.4(ATP13A2):c.1815C>T (p.Pro605=) rs2076603 0.55111
NM_017882.3(CLN6):c.*817C>T rs8142 0.51081
NM_000391.4(TPP1):c.508+26T>A rs1800738 0.47213
NM_000391.4(TPP1):c.*1588C>T rs7487 0.44955
NM_022089.4(ATP13A2):c.2970G>A (p.Val990=) rs761421 0.41522
NM_022089.4(ATP13A2):c.3236-30C>T rs2076605 0.41484
NM_002087.4(GRN):c.*78C>T rs5848 0.41298
NM_000157.4(GBA1):c.454+47G>A rs2075569 0.41024
NM_022089.4(ATP13A2):c.3192C>T (p.Ala1064=) rs9435659 0.40884
NM_022089.4(ATP13A2):c.3516G>A (p.Pro1172=) rs3170740 0.40860
NM_022089.4(ATP13A2):c.2637C>T (p.Gly879=) rs9435662 0.40757
NM_000391.4(TPP1):c.*1118G>C rs1045450 0.27054
NM_022089.4(ATP13A2):c.3084-3C>T rs7531163 0.23688
NM_000521.4(HEXB):c.300-32C>T rs35711978 0.23197
NM_003793.4(CTSF):c.126C>T (p.Pro42=) rs1044522 0.22868
NM_001909.5(CTSD):c.*67A>G rs12214 0.21384
NM_000521.4(HEXB):c.362A>G (p.Lys121Arg) rs11556045 0.20835
NM_022089.4(ATP13A2):c.2790G>A (p.Ser930=) rs3738815 0.20463
NM_002087.4(GRN):c.264+21G>A rs9897526 0.19972
NM_002087.4(GRN):c.-8+46G>T rs564341543 0.19681
NM_006493.4(CLN5):c.956A>G (p.Lys319Arg) rs1800209 0.19521
NM_000391.4(TPP1):c.1542A>T (p.Gly514=) rs1128396 0.19057
NM_000391.4(TPP1):c.1075+42C>T rs2072651 0.18683
NM_025219.3(DNAJC5):c.*2912C>T rs749723 0.17505
NM_000391.4(TPP1):c.1426-78T>C rs1800723 0.15684
NM_001909.5(CTSD):c.*597A>C rs8839 0.14604
NM_006493.4(CLN5):c.-144C>T rs77416795 0.12832
NM_000520.6(HEXA):c.1074-94C>A rs2303449 0.12787
NM_000520.6(HEXA):c.1074-127A>T rs2303450 0.12778
NM_000521.4(HEXB):c.619A>G (p.Ile207Val) rs10805890 0.12644
NM_001042432.2(CLN3):c.1211A>G (p.His404Arg) rs77595156 0.11421
NM_000391.4(TPP1):c.687+32T>C rs1800710 0.08743
NM_025219.3(DNAJC5):c.*1442A>G rs61744085 0.08435
NM_001909.5(CTSD):c.465T>C (p.Thr155=) rs11555039 0.08387
NM_025219.3(DNAJC5):c.*1648C>T rs41278222 0.08304
NM_025219.3(DNAJC5):c.*2711G>A rs76291580 0.08294
NM_025219.3(DNAJC5):c.*1106T>G rs11554629 0.08271
NM_025219.3(DNAJC5):c.*2701C>T rs3206771 0.08172
NM_025219.3(DNAJC5):c.321+20C>T rs2295436 0.07912
NM_006493.4(CLN5):c.-76A>G rs7987664 0.07840
NM_018941.4(CLN8):c.544-227A>G rs3935479 0.07779
NM_025219.3(DNAJC5):c.322-10C>T rs78457562 0.07717
NM_017882.3(CLN6):c.*1015T>C rs6494720 0.07280
NM_017882.3(CLN6):c.*690A>G rs8033190 0.07262
NM_018941.4(CLN8):c.544-124T>C rs12546965 0.07202
NM_003793.4(CTSF):c.722-5C>T rs78871927 0.06870
NM_000521.4(HEXB):c.772-4A>G rs17561000 0.06806
NM_001909.5(CTSD):c.353-17C>T rs7126177 0.06731
NM_025219.3(DNAJC5):c.*1303C>T rs41278214 0.06711
NM_025219.3(DNAJC5):c.*2725G>A rs11554628 0.06691
NM_000784.4(CYP27A1):c.438G>A (p.Pro146=) rs692003 0.06494
NM_001909.5(CTSD):c.173C>T (p.Ala58Val) rs17571 0.06134
NM_001909.5(CTSD):c.231C>T (p.Ala77=) rs2230067 0.06127
NM_025219.3(DNAJC5):c.*2208C>T rs11554631 0.06117
NM_025219.3(DNAJC5):c.*2601C>T rs112103063 0.06085
NM_000520.6(HEXA):c.806-48G>T rs73440586 0.06050
NM_000520.6(HEXA):c.1074-43C>G rs16956759 0.06040
NM_006493.4(CLN5):c.173+18C>T rs112141862 0.05807
NM_001909.5(CTSD):c.828-17G>A rs78735768 0.05315
NM_000520.6(HEXA):c.570+57G>A rs12440768 0.04919
NM_002087.4(GRN):c.835+7G>A rs72824736 0.04753
NM_000520.6(HEXA):c.1331-46G>A rs2303448 0.04341
NM_000391.4(TPP1):c.441A>G (p.Glu147=) rs2555170 0.04313
NM_022089.4(ATP13A2):c.*124C>T rs15786 0.04122
NM_022089.4(ATP13A2):c.1005C>T (p.Ala335=) rs56290406 0.04044
NM_000521.4(HEXB):c.-175G>A rs73117116 0.03911
NM_022089.4(ATP13A2):c.3144C>G (p.Thr1048=) rs56126202 0.03793
NM_006493.4(CLN5):c.173+8C>T rs9565308 0.03653
NM_000520.6(HEXA):c.1195A>G (p.Asn399Asp) rs1800430 0.03370
NM_006493.4(CLN5):c.1041T>C (p.Pro347=) rs36038805 0.03060
NM_000520.6(HEXA):c.9C>T (p.Ser3=) rs1800428 0.03048
NM_000521.3(HEXB):c.185C>T (p.Ser62Leu) rs820878 0.02757
NM_000391.4(TPP1):c.381-10dup rs146315473 0.02726
NM_002087.4(GRN):c.384T>C (p.Asp128=) rs25646 0.02616
NM_025219.3(DNAJC5):c.*4007G>C rs77777268 0.02556
NM_006493.4(CLN5):c.87C>G (p.Ala29=) rs138037471 0.02484
NM_022089.4(ATP13A2):c.3235+17G>A rs56146840 0.02453
NM_000391.4(TPP1):c.1266+5G>A rs1800753 0.01932
NM_025219.3(DNAJC5):c.*4385A>T rs77335831 0.01815
NM_025219.3(DNAJC5):c.*4300C>T rs41278224 0.01781
NM_000784.4(CYP27A1):c.888A>G (p.Gln296=) rs61733619 0.01643
NM_000520.6(HEXA):c.672+30T>G rs117160567 0.01494
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu) rs41272687 0.01478
NM_001909.5(CTSD):c.*300G>A rs113940256 0.01455
NM_003793.4(CTSF):c.418G>A (p.Ala140Thr) rs79274952 0.01384
NM_006493.4(CLN5):c.381T>G (p.Thr127=) rs34481987 0.01377
NM_025219.3(DNAJC5):c.144C>T (p.Pro48=) rs113987077 0.01342
NM_017882.3(CLN6):c.486+8C>T rs149692285 0.01339
NM_025219.3(DNAJC5):c.*3670A>G rs77107548 0.01329
NM_002087.4(GRN):c.55C>T (p.Arg19Trp) rs63750723 0.01303
NM_001909.5(CTSD):c.1215C>A (p.Gly405=) rs138733377 0.01277
NM_025219.3(DNAJC5):c.*4117C>T rs11554630 0.01268
NM_022089.4(ATP13A2):c.1617G>T (p.Leu539=) rs61739752 0.01259
NM_000391.4(TPP1):c.*71G>A rs140680586 0.01221
NM_001909.5(CTSD):c.189C>T (p.Thr63=) rs114051835 0.01221
NM_022089.4(ATP13A2):c.881G>A (p.Arg294Gln) rs56367069 0.01203
NM_018941.4(CLN8):c.274C>T (p.His92Tyr) rs34030778 0.01138
NM_017882.3(CLN6):c.34G>A (p.Ala12Thr) rs112239768 0.01081
NM_022089.4(ATP13A2):c.2763-16G>A rs114407349 0.01044
NM_025219.3(DNAJC5):c.*895C>G rs1064345 0.01026
NM_000391.4(TPP1):c.1044C>T (p.Ala348=) rs35706972 0.00982
NM_000521.4(HEXB):c.449C>A (p.Thr150Asn) rs148268937 0.00967
NM_000521.4(HEXB):c.1258A>G (p.Ile420Val) rs77499935 0.00923
NM_006493.4(CLN5):c.579C>A (p.Asn193Lys) rs138611001 0.00910
NM_000391.4(TPP1):c.1494C>T (p.Pro498=) rs117942457 0.00902
NM_018941.4(CLN8):c.685C>G (p.Pro229Ala) rs150047904 0.00893
NM_000391.4(TPP1):c.299A>G (p.Gln100Arg) rs1800746 0.00889
NM_001042432.2(CLN3):c.*99C>T rs113845299 0.00853
NM_000391.4(TPP1):c.1117C>G (p.Gln373Glu) rs112812685 0.00817
NM_002087.4(GRN):c.1544G>C (p.Gly515Ala) rs25647 0.00781
NM_003793.4(CTSF):c.1322-19G>A rs73505406 0.00770
NM_003793.4(CTSF):c.1368C>T (p.Asp456=) rs148155987 0.00759
NM_000521.4(HEXB):c.214C>T (p.Leu72Phe) rs147155126 0.00758
NM_003793.4(CTSF):c.939G>A (p.Gly313=) rs114727660 0.00758
NM_003793.4(CTSF):c.1261C>T (p.Arg421Trp) rs28464796 0.00735
NM_022089.4(ATP13A2):c.145G>A (p.Gly49Ser) rs56379718 0.00681
NM_000784.4(CYP27A1):c.-6C>T rs199891090 0.00673
NM_001909.5(CTSD):c.844G>A (p.Gly282Arg) rs147278302 0.00650
NM_022089.4(ATP13A2):c.3430G>A (p.Ala1144Thr) rs151181674 0.00646
NM_002087.3(GRN):c.-72G>T rs76783532 0.00635
NM_000521.4(HEXB):c.1051T>C (p.Leu351=) rs114661695 0.00596
NM_017882.3(CLN6):c.*667G>A rs111879561 0.00596
NM_022089.4(ATP13A2):c.1195+10G>A rs55689004 0.00585
NM_000521.4(HEXB):c.276C>T (p.Thr92=) rs140509633 0.00569
NM_001909.5(CTSD):c.846G>A (p.Gly282=) rs112021026 0.00567
NM_025219.3(DNAJC5):c.*2878T>C rs749724 0.00565
NM_001909.5(CTSD):c.1072-7G>A rs149019571 0.00560
NM_000784.4(CYP27A1):c.921G>A (p.Val307=) rs147975335 0.00559
NM_000391.4(TPP1):c.185C>T (p.Ser62Leu) rs2734715 0.00549
NM_017882.3(CLN6):c.298-6C>T rs117038427 0.00549
NM_002087.4(GRN):c.264+7G>A rs60100877 0.00548
NM_002087.4(GRN):c.42G>A (p.Leu14=) rs111435385 0.00533
NM_002087.4(GRN):c.1297C>T (p.Arg433Trp) rs63750412 0.00523
NM_022089.4(ATP13A2):c.*140C>G rs557545457 0.00509
NM_022089.4(ATP13A2):c.453C>T (p.Ser151=) rs55979991 0.00505
NM_000784.4(CYP27A1):c.524C>T (p.Thr175Met) rs2229381 0.00498
NM_001909.5(CTSD):c.828-19A>C rs200047861 0.00494
NM_001909.5(CTSD):c.*19G>A rs201434721 0.00493
NM_025219.3(DNAJC5):c.*817C>T rs114525694 0.00491
NM_022089.4(ATP13A2):c.2093T>C (p.Val698Ala) rs61734958 0.00485
NM_017882.3(CLN6):c.769A>G (p.Ser257Gly) rs151295143 0.00475
NM_022089.4(ATP13A2):c.132A>G (p.Pro44=) rs200816691 0.00471
NM_001909.5(CTSD):c.353-12C>T rs141523461 0.00468
NM_000391.4(TPP1):c.1253G>A (p.Arg418Gln) rs138744051 0.00456
NM_025219.3(DNAJC5):c.*1364C>T rs61735744 0.00449
NM_003793.4(CTSF):c.1158C>T (p.Asn386=) rs116329758 0.00447
NM_000520.6(HEXA):c.673-13T>C rs75211071 0.00438
NM_022089.4(ATP13A2):c.*120A>T rs41273151 0.00422
NM_000520.6(HEXA):c.759G>A (p.Val253=) rs117513345 0.00412
NM_022089.4(ATP13A2):c.*231G>A rs76298930 0.00409
NM_000784.4(CYP27A1):c.673C>T (p.Arg225Cys) rs114768494 0.00403
NM_001042432.2(CLN3):c.771G>A (p.Glu257=) rs73533466 0.00402
NM_025219.3(DNAJC5):c.*909G>T rs114038171 0.00395
NM_002087.4(GRN):c.545C>T (p.Thr182Met) rs63750479 0.00356
NM_025219.3(DNAJC5):c.*1235C>T rs149675982 0.00347
NM_022089.4(ATP13A2):c.2724G>A (p.Ser908=) rs79724242 0.00341
NM_002087.4(GRN):c.546G>A (p.Thr182=) rs138473783 0.00335
NM_018941.4(CLN8):c.777T>C (p.Asn259=) rs34814682 0.00334
NM_025219.3(DNAJC5):c.*1342G>A rs41278218 0.00334
NM_002087.4(GRN):c.1227G>A (p.Thr409=) rs140298583 0.00326
NM_000391.4(TPP1):c.553C>T (p.Arg185Cys) rs34758634 0.00324
NM_022089.4(ATP13A2):c.1614C>T (p.Pro538=) rs56351817 0.00324
NM_025219.3(DNAJC5):c.132C>T (p.Pro44=) rs140948457 0.00314
NM_000391.4(TPP1):c.381-23G>T rs181191327 0.00312
NM_001042432.2(CLN3):c.313A>G (p.Ile105Val) rs11552531 0.00312
NM_003793.4(CTSF):c.458A>G (p.Gln153Arg) rs11550508 0.00311
NM_006493.4(CLN5):c.-87C>T rs200353554 0.00309
NM_003793.4(CTSF):c.1231-13T>C rs199830949 0.00298
NM_001909.5(CTSD):c.912G>A (p.Pro304=) rs140238987 0.00281
NM_025219.3(DNAJC5):c.*3204C>T rs140377993 0.00248
NM_025219.3(DNAJC5):c.*1820C>A rs182604967 0.00237
NM_022089.4(ATP13A2):c.3342C>T (p.Thr1114=) rs115985012 0.00228
NM_022089.4(ATP13A2):c.1195+9C>T rs117758987 0.00227
NM_000784.4(CYP27A1):c.243G>A (p.Leu81=) rs75897848 0.00225
NM_003793.4(CTSF):c.130C>T (p.Arg44Cys) rs573483617 0.00221
NM_001909.5(CTSD):c.951C>T (p.Ala317=) rs78306946 0.00211
NM_006493.4(CLN5):c.-99G>C rs202118652 0.00208
NM_025219.3(DNAJC5):c.*1183G>T rs562364964 0.00208
NM_017882.3(CLN6):c.840G>A (p.Leu280=) rs148949069 0.00198
NM_001909.5(CTSD):c.639C>G (p.Pro213=) rs146073498 0.00197
NM_022089.4(ATP13A2):c.2367C>T (p.Leu789=) rs140048110 0.00195
NM_003793.4(CTSF):c.1321C>T (p.Arg441Cys) rs150922871 0.00177
NM_000520.6(HEXA):c.346+13C>T rs200871198 0.00173
NM_017882.3(CLN6):c.923G>C (p.Ser308Thr) rs143578698 0.00169
NM_000520.6(HEXA):c.1146+8G>A rs201453018 0.00167
NM_000520.6(HEXA):c.254-33G>A rs186468379 0.00164
NM_006493.4(CLN5):c.705G>A (p.Val235=) rs116531784 0.00163
NM_022089.4(ATP13A2):c.3406-14C>T rs139088170 0.00163
NM_017882.3(CLN6):c.339G>A (p.Thr113=) rs146135801 0.00141
NM_017882.3(CLN6):c.214G>C (p.Glu72Gln) rs104894483 0.00140
NM_025219.3(DNAJC5):c.*750G>T rs140106848 0.00140
NM_025219.3(DNAJC5):c.*195G>A rs180676568 0.00135
NM_025219.3(DNAJC5):c.456C>T (p.Pro152=) rs140326040 0.00130
NM_022089.4(ATP13A2):c.706-14C>T rs371532404 0.00128
NM_022089.4(ATP13A2):c.2859G>A (p.Thr953=) rs144557304 0.00127
NM_025219.3(DNAJC5):c.*1433G>A rs41278220 0.00125
NM_017882.3(CLN6):c.53C>T (p.Ala18Val) rs547125345 0.00120
NM_006493.4(CLN5):c.76T>C (p.Trp26Arg) rs199727787 0.00116
NM_001042432.2(CLN3):c.318C>T (p.Leu106=) rs148248159 0.00115
NM_025219.3(DNAJC5):c.*1556A>G rs58526294 0.00108
NM_000520.6(HEXA):c.69C>G (p.Leu23=) rs143554538 0.00107
NM_025219.3(DNAJC5):c.*3269C>G rs528394634 0.00107
NM_025219.3(DNAJC5):c.*2218A>G rs142121195 0.00106
NM_017882.3(CLN6):c.270C>T (p.Asn90=) rs145247814 0.00104
NM_001042432.2(CLN3):c.768C>T (p.Thr256=) rs145967477 0.00103
NM_025219.3(DNAJC5):c.*2790C>T rs55665472 0.00101
NM_025219.3(DNAJC5):c.107+10C>T rs181906972 0.00101
NM_000784.4(CYP27A1):c.1104G>A (p.Val368=) rs151064520 0.00093
NM_022089.4(ATP13A2):c.951C>T (p.Cys317=) rs148391179 0.00091
NM_000520.6(HEXA):c.1527-6T>C rs199914308 0.00087
NM_002087.4(GRN):c.228C>T (p.Thr76=) rs144736470 0.00086
NM_025219.3(DNAJC5):c.*4006C>T rs138866062 0.00079
NM_025219.3(DNAJC5):c.*4065G>A rs373099874 0.00076
NM_025219.3(DNAJC5):c.107+12A>G rs372843187 0.00074
NM_025219.3(DNAJC5):c.*2039C>T rs79245733 0.00073
NM_022089.4(ATP13A2):c.3529G>A (p.Gly1177Ser) rs547860186 0.00072
NM_025219.3(DNAJC5):c.*3413A>G rs150408300 0.00071
NM_002087.4(GRN):c.708+8A>T rs370878457 0.00066
NM_025219.3(DNAJC5):c.45A>G (p.Ser15=) rs144141585 0.00066
NM_022089.4(ATP13A2):c.106-14C>T rs199706883 0.00054
NM_022089.4(ATP13A2):c.3405+9C>T rs374766933 0.00051
NM_000520.6(HEXA):c.-4G>A rs766510036 0.00050
NM_006493.4(CLN5):c.5C>T (p.Ala2Val) rs146993892 0.00050
NM_025219.3(DNAJC5):c.*1630C>T rs527390994 0.00050
NM_017882.3(CLN6):c.5A>G (p.Glu2Gly) rs3743088 0.00042
NM_003793.4(CTSF):c.1407C>T (p.Ser469=) rs144556402 0.00039
NM_022089.4(ATP13A2):c.3087C>T (p.Phe1029=) rs184878897 0.00039
NM_000520.6(HEXA):c.1435G>A (p.Ala479Thr) rs145012038 0.00038
NM_000784.4(CYP27A1):c.1419C>T (p.Val473=) rs138596741 0.00037
NM_001909.5(CTSD):c.827+13T>C rs369602025 0.00036
NM_022089.4(ATP13A2):c.3314C>T (p.Pro1105Leu) rs201756175 0.00034
NM_025219.3(DNAJC5):c.*4129G>C rs191412647 0.00034
NM_025219.3(DNAJC5):c.*4131C>T rs146360147 0.00032
NM_022089.4(ATP13A2):c.1128C>T (p.Cys376=) rs148970081 0.00031
NM_025219.3(DNAJC5):c.228C>T (p.Tyr76=) rs201495666 0.00031
NM_000391.4(TPP1):c.*241T>C rs74843914 0.00029
NM_001042432.2(CLN3):c.790+16C>A rs200731769 0.00023
NM_001042432.2(CLN3):c.45G>A (p.Glu15=) rs201824641 0.00022
NM_017882.3(CLN6):c.84-18C>T rs201554701 0.00022
NM_003793.4(CTSF):c.45G>T (p.Pro15=) rs117792851 0.00020
NM_017882.3(CLN6):c.487-8T>C rs202046680 0.00019
NM_018941.4(CLN8):c.318C>T (p.His106=) rs184988046 0.00018
NM_000784.4(CYP27A1):c.1184+9G>T rs200457116 0.00016
NM_000784.4(CYP27A1):c.504A>T (p.Pro168=) rs142623022 0.00016
NM_018941.4(CLN8):c.806A>T (p.Glu269Val) rs139003032 0.00016
NM_025219.3(DNAJC5):c.*3432G>A rs1051821 0.00016
NM_022089.4(ATP13A2):c.106-5C>T rs117838709 0.00014
NM_000521.4(HEXB):c.1627G>A (p.Ala543Thr) rs121907984 0.00012
NM_006493.4(CLN5):c.1026A>G (p.Thr342=) rs200637649 0.00011
NM_022089.4(ATP13A2):c.114C>T (p.Ser38=) rs368279466 0.00011
NM_022089.4(ATP13A2):c.1536C>T (p.Phe512=) rs536306337 0.00011
NM_000784.4(CYP27A1):c.256G>A (p.Val86Met) rs200604732 0.00010
NM_000784.4(CYP27A1):c.792G>A (p.Val264=) rs144018609 0.00010
NM_025219.3(DNAJC5):c.75C>T (p.Asn25=) rs189308547 0.00010
NM_006493.4(CLN5):c.-4C>T rs587780896 0.00009
NM_022089.4(ATP13A2):c.635+15G>A rs563778719 0.00009
NM_025219.3(DNAJC5):c.*728G>A rs150670642 0.00008
NM_000391.4(TPP1):c.1033A>C (p.Met345Leu) rs141482368 0.00007
NM_001909.5(CTSD):c.926G>A (p.Arg309His) rs374540411 0.00006
NM_022089.4(ATP13A2):c.2529+9G>A rs200809857 0.00006
NM_025219.3(DNAJC5):c.*1079T>C rs370539010 0.00006
NM_025219.3(DNAJC5):c.*2563A>C rs188604040 0.00006
NM_025219.3(DNAJC5):c.*1643T>C rs142546412 0.00005
NM_000521.4(HEXB):c.1243-6T>C rs759404927 0.00004
NM_025219.3(DNAJC5):c.108-3C>T rs541118679 0.00004
NM_000784.4(CYP27A1):c.315C>T (p.His105=) rs753981913 0.00002
NM_001042432.2(CLN3):c.240G>A (p.Thr80=) rs373911322 0.00002
NM_017882.3(CLN6):c.*725C>T rs369225795 0.00002
NM_017882.3(CLN6):c.49G>A (p.Gly17Ser) rs763944821 0.00002
NM_001909.5(CTSD):c.1116C>T (p.Gly372=) rs557342549 0.00001
NM_002087.4(GRN):c.267C>T (p.Ala89=) rs201699327 0.00001
NM_025219.3(DNAJC5):c.*1604C>T rs554749952 0.00001
NM_025219.3(DNAJC5):c.*1936T>C rs574966040 0.00001
NM_000391.4(TPP1):c.887-6del rs35039601
NM_000391.4(TPP1):c.887-7_887-6del rs35039601
NM_000391.4(TPP1):c.887-8_887-6del rs35039601
NM_000520.6(HEXA):c.1421+13dup rs780193130
NM_000520.6(HEXA):c.1421+15G>C rs185764548
NM_000520.6(HEXA):c.1421+19del
NM_000521.4(HEXB):c.*82_*83del rs56312827
NM_000521.4(HEXB):c.1170-11del
NM_000521.4(HEXB):c.1170-11dup
NM_000521.4(HEXB):c.446-16dup
NM_000521.4(HEXB):c.512-112T>G rs1696979
NM_000784.3(CYP27A1):c.-357dup rs397795841
NM_000784.4(CYP27A1):c.1017+14del rs372792485
NM_000784.4(CYP27A1):c.1263+10del rs765426068
NM_000784.4(CYP27A1):c.1471G>T (p.Ala491Ser) rs72551323
NM_000784.4(CYP27A1):c.1477-3del rs2105981409
NM_000784.4(CYP27A1):c.1477-3dup
NM_000784.4(CYP27A1):c.366= (p.Gly122=) rs1051087
NM_000784.4(CYP27A1):c.506C>T (p.Ala169Val) rs59443548
NM_000784.4(CYP27A1):c.852G>A (p.Lys284=) rs587778814
NM_001042432.2(CLN3):c.1210C>A (p.His404Asn) rs146610181
NM_001042432.2(CLN3):c.270T>C (p.Phe90=) rs145520962
NM_001042432.2(CLN3):c.375-5del
NM_001042432.2(CLN3):c.375-5dup
NM_001042432.2(CLN3):c.461-3del rs766754807
NM_001042432.2(CLN3):c.461-3dup
NM_001042432.2(CLN3):c.790+3A>C rs386833738
NM_001909.5(CTSD):c.69-17del
NM_001909.5(CTSD):c.827+111del rs55725229
NM_002087.4(GRN):c.1180-3del
NM_002087.4(GRN):c.414G>C (p.Thr138=) rs543344476
NM_002087.4(GRN):c.463-6dup rs780699082
NM_002087.4(GRN):c.933+11del
NM_002087.4(GRN):c.99C>T (p.Asp33=) rs63750742
NM_006493.4(CLN5):c.566-8dup rs760343764
NM_017882.3(CLN6):c.297+19del rs61224699
NM_017882.3(CLN6):c.298-3del rs1567095944
NM_017882.3(CLN6):c.487-12T>A rs571940397
NM_017882.3(CLN6):c.64G>T (p.Ala22Ser) rs527373013
NM_017882.3(CLN6):c.83+14dup rs756808642
NM_018941.4(CLN8):c.639G>T (p.Trp213Cys) rs113304303
NM_018941.4(CLN8):c.648C>T (p.Phe216=) rs564074916
NM_022089.4(ATP13A2):c.1845+15del
NM_022089.4(ATP13A2):c.1947C>G (p.Pro649=) rs369722835
NM_022089.4(ATP13A2):c.2151C>T (p.Ser717=) rs544545629
NM_022089.4(ATP13A2):c.2251+20C>T
NM_025219.3(DNAJC5):c.*2723A>G rs76769576
NM_025219.3(DNAJC5):c.*4070C>G rs3810500
NM_025219.3(DNAJC5):c.*727C>A rs75130625
NM_025219.3(DNAJC5):c.*727C>G rs75130625
NM_025219.3(DNAJC5):c.*853C>G rs6011230
NM_025219.3(DNAJC5):c.322-3dup rs1173184036

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