ClinVar Miner

List of variants reported as uncertain significance for cerebral lipidosis with dementia by Illumina Laboratory Services, Illumina

Included ClinVar conditions (32):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 465
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HGVS dbSNP gnomAD frequency
NM_017882.3(CLN6):c.*42T>G rs754655363 0.14249
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu) rs41272687 0.01478
NM_000520.5(HEXA):c.-167G>A rs77707876 0.01456
NM_000520.6(HEXA):c.*575G>A rs76075374 0.01411
NM_017882.3(CLN6):c.486+8C>T rs149692285 0.01339
NM_017882.3(CLN6):c.34G>A (p.Ala12Thr) rs112239768 0.01081
NM_000784.3(CYP27A1):c.-370T>C rs182545847 0.00800
NM_000784.4(CYP27A1):c.-6C>T rs199891090 0.00673
NM_000520.5(HEXA):c.-59G>A rs147174351 0.00489
NM_000520.6(HEXA):c.673-13T>C rs75211071 0.00438
NM_000391.4(TPP1):c.*1540T>C rs374146578 0.00387
NM_000784.3(CYP27A1):c.-205C>A rs187723732 0.00357
NM_001042432.2(CLN3):c.-129G>C rs141305257 0.00315
NM_001909.5(CTSD):c.912G>A (p.Pro304=) rs140238987 0.00281
NM_000520.6(HEXA):c.*76G>A rs558918292 0.00277
NM_000391.4(TPP1):c.840G>C (p.Leu280=) rs140349036 0.00257
NM_001909.5(CTSD):c.*509C>T rs780680894 0.00255
NM_022089.4(ATP13A2):c.3342C>T (p.Thr1114=) rs115985012 0.00228
NM_000391.4(TPP1):c.*1250T>A rs193029892 0.00215
NM_000391.4(TPP1):c.293C>T (p.Thr98Met) rs140726254 0.00209
NM_001909.5(CTSD):c.639C>G (p.Pro213=) rs146073498 0.00197
NM_000391.4(TPP1):c.*1570C>T rs369352772 0.00175
NM_000520.6(HEXA):c.346+13C>T rs200871198 0.00173
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.339G>A (p.Thr113=) rs146135801 0.00141
NM_000391.4(TPP1):c.14C>A (p.Ala5Asp) rs138976576 0.00133
NM_000784.3(CYP27A1):c.-335C>T rs528284503 0.00128
NM_022089.4(ATP13A2):c.2859G>A (p.Thr953=) rs144557304 0.00127
NM_001909.5(CTSD):c.*694G>A rs751538234 0.00116
NM_025219.3(DNAJC5):c.*1220G>A rs73136582 0.00115
NM_001042432.2(CLN3):c.768C>T (p.Thr256=) rs145967477 0.00103
NM_025219.3(DNAJC5):c.-109A>G rs750302498 0.00102
NM_017882.3(CLN6):c.*1103G>A rs147362516 0.00101
NM_000520.6(HEXA):c.1107C>T (p.Gly369=) rs140337137 0.00100
NM_001042432.1(CLN3):c.-264C>G rs187163584 0.00096
NM_022089.4(ATP13A2):c.2836A>T (p.Ile946Phe) rs55708915 0.00091
NM_022089.4(ATP13A2):c.951C>T (p.Cys317=) rs148391179 0.00091
NM_000520.6(HEXA):c.1527-6T>C rs199914308 0.00087
NM_000784.4(CYP27A1):c.703G>A (p.Glu235Lys) rs149897566 0.00083
NM_022089.4(ATP13A2):c.1309C>G (p.Leu437Val) rs149372969 0.00081
NM_000521.4(HEXB):c.1082+13C>T rs201428805 0.00080
NM_025219.3(DNAJC5):c.*736G>A rs552739074 0.00078
NM_022089.4(ATP13A2):c.106-8G>A rs200587951 0.00075
NM_001909.5(CTSD):c.8C>T (p.Pro3Leu) rs757712173 0.00067
NM_001042432.2(CLN3):c.*55C>A rs199979207 0.00065
NM_000391.4(TPP1):c.*829C>T rs533616443 0.00062
NM_000521.4(HEXB):c.1417+11C>T rs146572414 0.00062
NM_017882.3(CLN6):c.*312C>T rs747144655 0.00060
NM_025219.3(DNAJC5):c.*3480G>C rs577249426 0.00060
NM_000520.5(HEXA):c.-136G>A rs561320483 0.00054
NM_000784.4(CYP27A1):c.276C>T (p.Tyr92=) rs141519183 0.00053
NM_000391.4(TPP1):c.1241A>T (p.Asn414Ile) rs146798796 0.00051
NM_000521.4(HEXB):c.715G>A (p.Val239Ile) rs145056714 0.00051
NM_022089.4(ATP13A2):c.3405+9C>T rs374766933 0.00051
NM_000520.6(HEXA):c.-4G>A rs766510036 0.00050
NM_022089.4(ATP13A2):c.2331C>T (p.His777=) rs144708504 0.00050
NM_017882.3(CLN6):c.487-15C>T rs200775021 0.00049
NM_001042432.2(CLN3):c.831G>A (p.Val277=) rs1142183 0.00045
NM_022089.4(ATP13A2):c.746C>T (p.Ala249Val) rs145515028 0.00044
NM_000391.4(TPP1):c.*1282C>A rs1032115129 0.00042
NM_000520.6(HEXA):c.*436C>T rs112626309 0.00042
NM_000391.4(TPP1):c.*312T>C rs201122774 0.00041
NM_000391.4(TPP1):c.101G>A (p.Gly34Asp) rs138448968 0.00041
NM_017882.3(CLN6):c.*131G>T rs556392570 0.00041
NM_017882.3(CLN6):c.822G>A (p.Ala274=) rs151186473 0.00041
NM_001042432.2(CLN3):c.1230G>A (p.Ala410=) rs201206239 0.00040
NM_017882.3(CLN6):c.*882C>T rs766413849 0.00039
NM_001909.5(CTSD):c.827+13T>C rs369602025 0.00036
NM_017882.3(CLN6):c.-38C>T rs756496671 0.00036
NM_000521.4(HEXB):c.1248G>A (p.Ala416=) rs137915238 0.00035
NM_022089.4(ATP13A2):c.1203C>T (p.Cys401=) rs148026506 0.00035
NM_001909.5(CTSD):c.1071+12A>G rs113936232 0.00034
NM_022089.4(ATP13A2):c.1926G>A (p.Ala642=) rs200916673 0.00034
NM_022089.4(ATP13A2):c.2263C>G (p.Gln755Glu) rs200924194 0.00034
NM_022089.4(ATP13A2):c.3314C>T (p.Pro1105Leu) rs201756175 0.00034
NM_001909.5(CTSD):c.*736C>G rs577842141 0.00032
NM_000521.4(HEXB):c.918G>C (p.Leu306=) rs140607282 0.00031
NM_022089.4(ATP13A2):c.1128C>T (p.Cys376=) rs148970081 0.00031
NM_022089.4(ATP13A2):c.2619G>C (p.Val873=) rs199994961 0.00030
NM_000520.6(HEXA):c.*355C>G rs188399769 0.00029
NM_001042432.2(CLN3):c.242C>T (p.Pro81Leu) rs137906617 0.00029
NM_001909.5(CTSD):c.1071+7G>A rs374010531 0.00029
NM_022089.4(ATP13A2):c.1244G>A (p.Arg415Gln) rs190746040 0.00029
NM_022089.4(ATP13A2):c.*243A>C rs777596557 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_017882.3(CLN6):c.*284C>T rs536039114 0.00026
NM_001909.5(CTSD):c.1009G>A (p.Ala337Thr) rs147800688 0.00025
NM_022089.4(ATP13A2):c.3258G>A (p.Ala1086=) rs377253172 0.00024
NM_022089.4(ATP13A2):c.3429C>T (p.Pro1143=) rs377703085 0.00024
NM_025219.3(DNAJC5):c.*4387C>G rs550273913 0.00023
NM_000784.4(CYP27A1):c.*195G>C rs886055632 0.00022
NM_001909.5(CTSD):c.*358C>T rs542969755 0.00022
NM_017882.3(CLN6):c.100G>A (p.Ala34Thr) rs146198681 0.00022
NM_000391.4(TPP1):c.*223T>C rs538963672 0.00021
NM_017882.3(CLN6):c.282C>A (p.Pro94=) rs139261571 0.00021
NM_022089.4(ATP13A2):c.36G>A (p.Thr12=) rs61741838 0.00021
NM_000520.6(HEXA):c.1216C>T (p.Leu406=) rs140482769 0.00019
NM_000520.6(HEXA):c.1421+14G>C rs201497629 0.00019
NM_000784.4(CYP27A1):c.789C>T (p.Pro263=) rs143600636 0.00019
NM_001909.5(CTSD):c.240C>T (p.Tyr80=) rs147641822 0.00019
NM_000391.4(TPP1):c.796C>T (p.Arg266Trp) rs200138397 0.00018
NM_001042432.2(CLN3):c.392G>A (p.Ser131Asn) rs144770450 0.00017
NM_025219.3(DNAJC5):c.*3839G>A rs145028189 0.00017
NM_000521.4(HEXB):c.1612G>A (p.Glu538Lys) rs143635580 0.00016
NM_000521.4(HEXB):c.1667T>C (p.Met556Thr) rs140627230 0.00016
NM_000784.4(CYP27A1):c.1017+5G>A rs370304209 0.00016
NM_000784.4(CYP27A1):c.1184+9G>T rs200457116 0.00016
NM_000784.4(CYP27A1):c.504A>T (p.Pro168=) rs142623022 0.00016
NM_000391.4(TPP1):c.*1774G>A rs886048532 0.00015
NM_001042432.2(CLN3):c.677+8G>A rs368568189 0.00015
NM_022089.4(ATP13A2):c.*58A>G rs369126613 0.00015
NM_022089.4(ATP13A2):c.1108C>T (p.Arg370Trp) rs142616130 0.00015
NM_025219.3(DNAJC5):c.*1182C>T rs753503517 0.00015
NM_001042432.2(CLN3):c.*200A>G rs561135374 0.00014
NM_001909.5(CTSD):c.*403C>T rs140852332 0.00014
NM_001909.5(CTSD):c.*494C>T rs551867617 0.00014
NM_022089.4(ATP13A2):c.1449C>T (p.Tyr483=) rs750600448 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_017882.3(CLN6):c.*246G>A rs886051441 0.00013
NM_017882.3(CLN6):c.*69G>T rs761969677 0.00013
NM_025219.3(DNAJC5):c.*3375C>T rs886056951 0.00013
NM_000784.4(CYP27A1):c.578G>A (p.Arg193Gln) rs181649030 0.00012
NM_001909.5(CTSD):c.90G>A (p.Thr30=) rs368529527 0.00012
NM_017882.3(CLN6):c.*1023G>A rs760989550 0.00012
NM_022089.4(ATP13A2):c.1711G>A (p.Asp571Asn) rs369863178 0.00012
NM_000391.4(TPP1):c.1653C>G (p.Pro551=) rs372564255 0.00011
NM_017882.3(CLN6):c.*991C>A rs537819492 0.00011
NM_017882.3(CLN6):c.41G>A (p.Gly14Asp) rs994590268 0.00011
NM_017882.3(CLN6):c.585C>T (p.Gly195=) rs144507672 0.00011
NM_022089.4(ATP13A2):c.114C>T (p.Ser38=) rs368279466 0.00011
NM_022089.4(ATP13A2):c.1767G>A (p.Pro589=) rs752208167 0.00011
NM_025219.3(DNAJC5):c.*3213G>A rs902946721 0.00011
NM_025219.3(DNAJC5):c.*3550C>T rs546308193 0.00011
NM_000391.4(TPP1):c.*346A>G rs149218047 0.00010
NM_000784.4(CYP27A1):c.792G>A (p.Val264=) rs144018609 0.00010
NM_001042432.2(CLN3):c.-41C>A rs370217726 0.00010
NM_001909.5(CTSD):c.14G>C (p.Ser5Thr) rs764386803 0.00010
NM_025219.3(DNAJC5):c.*2933C>T rs886056946 0.00010
NM_000391.4(TPP1):c.*1478T>A rs775934269 0.00009
NM_000391.4(TPP1):c.*704C>T rs1033619913 0.00009
NM_000520.5(HEXA):c.-141G>A rs886051462 0.00009
NM_000520.6(HEXA):c.1397A>G (p.Asn466Ser) rs200936836 0.00009
NM_000521.3(HEXB):c.-52C>A rs886060748 0.00009
NM_001042432.2(CLN3):c.*78G>A rs751235567 0.00009
NM_001042432.2(CLN3):c.649C>A (p.Leu217Met) rs150913606 0.00009
NM_001042432.2(CLN3):c.754C>T (p.Pro252Ser) rs769104531 0.00009
NM_001042432.2(CLN3):c.759C>A (p.Leu253=) rs772274552 0.00009
NM_001909.5(CTSD):c.-24C>T rs587780917 0.00009
NM_017882.3(CLN6):c.*1109G>A rs560713030 0.00009
NM_017882.3(CLN6):c.298-15C>T rs368661456 0.00009
NM_022089.4(ATP13A2):c.35C>T (p.Thr12Met) rs151117874 0.00009
NM_022089.4(ATP13A2):c.396G>A (p.Ala132=) rs140631323 0.00009
NM_025219.3(DNAJC5):c.*4036G>A rs758582743 0.00009
NM_001042432.2(CLN3):c.1209G>A (p.Glu403=) rs377369610 0.00008
NM_001909.5(CTSD):c.*130G>A rs1002940636 0.00008
NM_017882.3(CLN6):c.*470C>T rs565006193 0.00008
NM_017882.3(CLN6):c.*481T>G rs746416658 0.00008
NM_022089.4(ATP13A2):c.1079G>A (p.Gly360Glu) rs566918264 0.00008
NM_025219.3(DNAJC5):c.*1557T>G rs542172964 0.00008
NM_025219.3(DNAJC5):c.*322G>A rs143646564 0.00008
NM_000391.4(TPP1):c.947C>A (p.Ala316Asp) rs149463616 0.00007
NM_000784.4(CYP27A1):c.1114G>A (p.Gly372Arg) rs369969903 0.00007
NM_000784.4(CYP27A1):c.702C>T (p.Pro234=) rs371636461 0.00007
NM_001909.5(CTSD):c.*398G>A rs776662882 0.00007
NM_017882.3(CLN6):c.*175C>T rs886051444 0.00007
NM_022089.4(ATP13A2):c.3193G>A (p.Val1065Met) rs377431904 0.00007
NM_022089.4(ATP13A2):c.3297C>T (p.Pro1099=) rs756650754 0.00007
NM_022089.4(ATP13A2):c.3539G>A (p.Arg1180Lys) rs771312962 0.00007
NM_025219.3(DNAJC5):c.-186C>T rs886056927 0.00007
NM_000391.4(TPP1):c.*1428T>C rs188544089 0.00006
NM_000391.4(TPP1):c.437C>T (p.Thr146Met) rs748686068 0.00006
NM_000521.4(HEXB):c.1269A>G (p.Val423=) rs746407358 0.00006
NM_000784.4(CYP27A1):c.536A>G (p.Asn179Ser) rs145080072 0.00006
NM_000784.4(CYP27A1):c.712G>A (p.Val238Met) rs199691576 0.00006
NM_001042432.2(CLN3):c.126-8C>T rs770136863 0.00006
NM_001042432.2(CLN3):c.222T>C (p.His74=) rs201225986 0.00006
NM_001909.5(CTSD):c.1084G>A (p.Gly362Arg) rs746733183 0.00006
NM_017882.3(CLN6):c.*179G>C rs886051443 0.00006
NM_017882.3(CLN6):c.316C>T (p.Arg106Cys) rs202226970 0.00006
NM_017882.3(CLN6):c.597C>G (p.Ala199=) rs368546281 0.00006
NM_022089.4(ATP13A2):c.2406C>T (p.Gly802=) rs886045580 0.00006
NM_022089.4(ATP13A2):c.3257C>T (p.Ala1086Val) rs370677966 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_000521.4(HEXB):c.1035A>C (p.Pro345=) rs202227927 0.00005
NM_001042432.2(CLN3):c.418G>A (p.Val140Ile) rs373034150 0.00005
NM_022089.4(ATP13A2):c.3378C>T (p.Leu1126=) rs773914880 0.00005
NM_022089.4(ATP13A2):c.601C>T (p.Arg201Cys) rs760715676 0.00005
NM_025219.3(DNAJC5):c.*1934T>G rs768056284 0.00005
NM_000391.4(TPP1):c.*785T>G rs764323122 0.00004
NM_000391.4(TPP1):c.138G>T (p.Glu46Asp) rs778900807 0.00004
NM_000784.4(CYP27A1):c.545T>C (p.Ile182Thr) rs556745324 0.00004
NM_001042432.2(CLN3):c.*29A>G rs778438984 0.00004
NM_001042432.2(CLN3):c.1119C>T (p.Leu373=) rs376478363 0.00004
NM_001042432.2(CLN3):c.239C>T (p.Thr80Met) rs775999656 0.00004
NM_001042432.2(CLN3):c.516C>T (p.Leu172=) rs148846795 0.00004
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.283G>A (p.Val95Ile) rs141482597 0.00004
NM_001909.5(CTSD):c.470C>T (p.Ser157Leu) rs587779409 0.00004
NM_017882.3(CLN6):c.-101A>G rs555985698 0.00004
NM_017882.3(CLN6):c.259A>G (p.Met87Val) rs532180601 0.00004
NM_022089.4(ATP13A2):c.*155C>T rs762111359 0.00004
NM_022089.4(ATP13A2):c.-151C>T rs886045583 0.00004
NM_022089.4(ATP13A2):c.2407G>A (p.Val803Ile) rs747785443 0.00004
NM_022089.4(ATP13A2):c.2558G>A (p.Arg853His) rs745954026 0.00004
NM_022089.4(ATP13A2):c.2952G>A (p.Ala984=) rs138212767 0.00004
NM_022089.4(ATP13A2):c.3112G>A (p.Ala1038Thr) rs757076945 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_000391.4(TPP1):c.*44T>A rs370517226 0.00003
NM_000520.5(HEXA):c.-181T>C rs886051463 0.00003
NM_000521.3(HEXB):c.-62G>A rs1045177384 0.00003
NM_000521.4(HEXB):c.-14G>A rs886060749 0.00003
NM_000784.4(CYP27A1):c.241C>A (p.Leu81Met) rs370498798 0.00003
NM_000784.4(CYP27A1):c.808C>G (p.Arg270Gly) rs72551318 0.00003
NM_000784.4(CYP27A1):c.859G>A (p.Asp287Asn) rs775027289 0.00003
NM_000784.4(CYP27A1):c.871G>A (p.Glu291Lys) rs190012697 0.00003
NM_001042432.2(CLN3):c.1086C>G (p.Asp362Glu) rs376907245 0.00003
NM_001042432.2(CLN3):c.47-3C>T rs377583228 0.00003
NM_001909.5(CTSD):c.*654C>T rs148490566 0.00003
NM_001909.5(CTSD):c.-37G>A rs756112449 0.00003
NM_017882.3(CLN6):c.-92C>T rs942971560 0.00003
NM_017882.3(CLN6):c.831C>T (p.Val277=) rs753344266 0.00003
NM_022089.4(ATP13A2):c.2190G>T (p.Pro730=) rs148275181 0.00003
NM_022089.4(ATP13A2):c.2439C>T (p.Thr813=) rs368244226 0.00003
NM_022089.4(ATP13A2):c.42C>T (p.Thr14=) rs371850140 0.00003
NM_025219.3(DNAJC5):c.*1391G>A rs886056944 0.00003
NM_025219.3(DNAJC5):c.-185G>T rs886056928 0.00003
NM_000391.4(TPP1):c.*1560C>T rs541932361 0.00002
NM_000391.4(TPP1):c.*984T>A rs1000719227 0.00002
NM_000391.4(TPP1):c.1281G>A (p.Thr427=) rs577520250 0.00002
NM_000391.4(TPP1):c.1552-9C>T rs369699167 0.00002
NM_000391.4(TPP1):c.890G>A (p.Arg297Gln) rs796053441 0.00002
NM_000520.6(HEXA):c.64G>A (p.Ala22Thr) rs756218457 0.00002
NM_000521.4(HEXB):c.1083-14A>C rs776536464 0.00002
NM_000784.4(CYP27A1):c.322C>T (p.Leu108=) rs192344487 0.00002
NM_000784.4(CYP27A1):c.368A>C (p.Lys123Thr) rs778424069 0.00002
NM_000784.4(CYP27A1):c.507G>A (p.Ala169=) rs776260288 0.00002
NM_000784.4(CYP27A1):c.525G>A (p.Thr175=) rs200506778 0.00002
NM_000784.4(CYP27A1):c.666C>T (p.Phe222=) rs751692931 0.00002
NM_000784.4(CYP27A1):c.747G>A (p.Gln249=) rs764766872 0.00002
NM_001042432.2(CLN3):c.*187G>A rs867117606 0.00002
NM_001042432.2(CLN3):c.748C>T (p.Arg250Trp) rs764881080 0.00002
NM_001909.5(CTSD):c.*356C>G rs886048062 0.00002
NM_017882.3(CLN6):c.49G>A (p.Gly17Ser) rs763944821 0.00002
NM_017882.3(CLN6):c.666-3C>T rs761161043 0.00002
NM_022089.4(ATP13A2):c.1112G>A (p.Arg371Gln) rs779347442 0.00002
NM_022089.4(ATP13A2):c.1307-14C>T rs370771306 0.00002
NM_022089.4(ATP13A2):c.1442C>T (p.Thr481Met) rs752000462 0.00002
NM_022089.4(ATP13A2):c.2285G>A (p.Arg762Gln) rs766899425 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_000391.4(TPP1):c.*1634T>C rs886048534 0.00001
NM_000391.4(TPP1):c.*171T>C rs953806091 0.00001
NM_000391.4(TPP1):c.*716C>A rs957511928 0.00001
NM_000391.4(TPP1):c.*937C>T rs1339024138 0.00001
NM_000391.4(TPP1):c.-21G>A rs760667554 0.00001
NM_000391.4(TPP1):c.1192C>T (p.Leu398Phe) rs149319579 0.00001
NM_000391.4(TPP1):c.1552-14A>C rs1006965532 0.00001
NM_000391.4(TPP1):c.473A>C (p.Gln158Pro) rs757507462 0.00001
NM_000391.4(TPP1):c.734G>A (p.Arg245His) rs754161261 0.00001
NM_000391.4(TPP1):c.993C>T (p.Ser331=) rs1855585414 0.00001
NM_000520.5(HEXA):c.-207A>G rs886051464 0.00001
NM_000520.6(HEXA):c.*12C>T rs532797279 0.00001
NM_000520.6(HEXA):c.1033G>A (p.Gly345Ser) rs775322979 0.00001
NM_000520.6(HEXA):c.271G>A (p.Glu91Lys) rs756740656 0.00001
NM_000521.4(HEXB):c.*105T>C rs777009900 0.00001
NM_000521.4(HEXB):c.156G>A (p.Pro52=) rs758965664 0.00001
NM_000521.4(HEXB):c.842G>A (p.Arg281Gln) rs751678693 0.00001
NM_000784.3(CYP27A1):c.-162C>T rs886055629 0.00001
NM_000784.4(CYP27A1):c.1369A>G (p.Thr457Ala) rs373870129 0.00001
NM_000784.4(CYP27A1):c.2T>C (p.Met1Thr) rs759003992 0.00001
NM_001042432.1(CLN3):c.-364C>T rs1422231105 0.00001
NM_001042432.2(CLN3):c.*205G>A rs757923800 0.00001
NM_001042432.2(CLN3):c.*58A>C rs142958639 0.00001
NM_001042432.2(CLN3):c.1033A>T (p.Thr345Ser) rs150986176 0.00001
NM_001042432.2(CLN3):c.308C>T (p.Ala103Val) rs760039703 0.00001
NM_001042432.2(CLN3):c.327C>T (p.Leu109=) rs748293490 0.00001
NM_001042432.2(CLN3):c.436C>T (p.His146Tyr) rs371590088 0.00001
NM_001042432.2(CLN3):c.47-1G>A rs1555469477 0.00001
NM_001042432.2(CLN3):c.761T>C (p.Ile254Thr) rs745948575 0.00001
NM_001042432.2(CLN3):c.837+5G>A rs756848924 0.00001
NM_001042432.2(CLN3):c.941G>A (p.Ser314Asn) rs769358990 0.00001
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.946G>A (p.Gly316Arg) rs764766572 0.00001
NM_017882.3(CLN6):c.*300C>T rs886051439 0.00001
NM_017882.3(CLN6):c.*446C>T rs1249079296 0.00001
NM_017882.3(CLN6):c.*532T>A rs886051437 0.00001
NM_017882.3(CLN6):c.*749T>C rs1189755650 0.00001
NM_017882.3(CLN6):c.-22C>A rs886051448 0.00001
NM_017882.3(CLN6):c.255C>G (p.Phe85Leu) rs545955828 0.00001
NM_022089.4(ATP13A2):c.*182C>T rs970274162 0.00001
NM_022089.4(ATP13A2):c.-99G>C rs569658051 0.00001
NM_022089.4(ATP13A2):c.1065G>A (p.Thr355=) rs750819290 0.00001
NM_022089.4(ATP13A2):c.1314C>A (p.Leu438=) rs764435162 0.00001
NM_022089.4(ATP13A2):c.1420C>G (p.Pro474Ala) rs530658980 0.00001
NM_022089.4(ATP13A2):c.1744G>A (p.Gly582Ser) rs886045581 0.00001
NM_022089.4(ATP13A2):c.1774G>A (p.Asp592Asn) rs750921184 0.00001
NM_022089.4(ATP13A2):c.1870G>A (p.Val624Ile) rs368423685 0.00001
NM_022089.4(ATP13A2):c.2252-11A>G rs775547036 0.00001
NM_022089.4(ATP13A2):c.2381T>C (p.Met794Thr) rs151222153 0.00001
NM_022089.4(ATP13A2):c.2440G>A (p.Val814Met) rs748454159 0.00001
NM_022089.4(ATP13A2):c.2609+10C>T rs759204814 0.00001
NM_022089.4(ATP13A2):c.2770C>T (p.Arg924Cys) rs567866687 0.00001
NM_022089.4(ATP13A2):c.3235+15G>A rs761031832 0.00001
NM_022089.4(ATP13A2):c.515G>A (p.Arg172His) rs776601823 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
NM_000391.4(TPP1):c.*1000T>C rs886048538
NM_000391.4(TPP1):c.*1108T>C rs1855527274
NM_000391.4(TPP1):c.*124C>T rs985151429
NM_000391.4(TPP1):c.*1302A>T rs886048537
NM_000391.4(TPP1):c.*1311C>T rs886048536
NM_000391.4(TPP1):c.*1508G>A rs561558362
NM_000391.4(TPP1):c.*1741G>T rs1299016829
NM_000391.4(TPP1):c.1116C>T (p.His372=) rs751321300
NM_000391.4(TPP1):c.65G>A (p.Ser22Asn) rs202025584
NM_000391.4(TPP1):c.886+7C>T rs886048543
NM_000520.6(HEXA):c.*200T>C rs886051461
NM_000520.6(HEXA):c.1421+15G>C rs185764548
NM_000521.3(HEXB):c.-63G>A rs1748827834
NM_000521.4(HEXB):c.1613+14del rs754704434
NM_000521.4(HEXB):c.669G>A (p.Leu223=) rs773385077
NM_000521.4(HEXB):c.670-14_670-13del rs886060751
NM_000521.4(HEXB):c.78G>A (p.Met26Ile) rs886060750
NM_000784.3(CYP27A1):c.-182C>T rs886055628
NM_000784.4(CYP27A1):c.*153G>C rs886055631
NM_000784.4(CYP27A1):c.*209G>A rs540140393
NM_000784.4(CYP27A1):c.1435C>T (p.Arg479Cys) rs72551322
NM_000784.4(CYP27A1):c.1514C>T (p.Thr505Met) rs76822427
NM_000784.4(CYP27A1):c.1559A>C (p.Lys520Thr) rs1943774432
NM_000784.4(CYP27A1):c.309G>A (p.Gln103=) rs1306558952
NM_000784.4(CYP27A1):c.344A>G (p.Glu115Gly) rs1943690611
NM_000784.4(CYP27A1):c.447-3C>T rs770217459
NM_000784.4(CYP27A1):c.491G>A (p.Arg164Gln) rs148417330
NM_000784.4(CYP27A1):c.586_587del (p.Ser196fs) rs758739930
NM_000784.4(CYP27A1):c.885C>T (p.Ala295=) rs1943740072
NM_001042432.1(CLN3):c.-210G>T rs2046326373
NM_001042432.1(CLN3):c.-218G>A rs886051874
NM_001042432.1(CLN3):c.-279G>C rs1232959828
NM_001042432.2(CLN3):c.*111G>T rs2046010035
NM_001042432.2(CLN3):c.-112C>T rs572212180
NM_001042432.2(CLN3):c.-77+14G>T rs886051873
NM_001042432.2(CLN3):c.1057-14C>A rs773692029
NM_001042432.2(CLN3):c.1084G>A (p.Asp362Asn) rs2046022965
NM_001042432.2(CLN3):c.206C>G (p.Ser69Trp) rs769840061
NM_001042432.2(CLN3):c.270T>G (p.Phe90Leu) rs145520962
NM_001042432.2(CLN3):c.461-3C>T rs181995380
NM_001042432.2(CLN3):c.565G>T (p.Gly189Trp) rs386833731
NM_001042432.2(CLN3):c.868G>A (p.Val290Ile) rs369008702
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.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_017882.3(CLN6):c.*224T>C rs886051442
NM_017882.3(CLN6):c.*264T>C rs886051440
NM_017882.3(CLN6):c.*345C>T rs2093191394
NM_017882.3(CLN6):c.*526A>G rs886051438
NM_017882.3(CLN6):c.*887G>T rs886051436
NM_017882.3(CLN6):c.*88G>A rs886051446
NM_017882.3(CLN6):c.-108G>C rs865972073
NM_017882.3(CLN6):c.124C>T (p.Pro42Ser) rs1003606439
NM_017882.3(CLN6):c.213C>G (p.Leu71=) rs146980624
NM_017882.3(CLN6):c.469C>A (p.Leu157Ile) rs2093205792
NM_017882.3(CLN6):c.487-12T>A rs571940397
NM_017882.3(CLN6):c.487-3C>G rs1468531022
NM_017882.3(CLN6):c.66C>T (p.Ala22=) rs796052349
NM_017882.3(CLN6):c.719C>T (p.Ala240Val) rs2093194119
NM_017882.3(CLN6):c.83+11G>A rs2093262385
NM_022089.4(ATP13A2):c.*9C>A rs773484997
NM_022089.4(ATP13A2):c.-171G>C rs1350517492
NM_022089.4(ATP13A2):c.1040-6C>T rs886045582
NM_022089.4(ATP13A2):c.1163G>A (p.Gly388Glu) rs769588580
NM_022089.4(ATP13A2):c.1208C>A (p.Ala403Glu) rs373349384
NM_022089.4(ATP13A2):c.1387G>C (p.Asp463His) rs776550207
NM_022089.4(ATP13A2):c.1777_1778del (p.Ala594fs) rs1557683241
NM_022089.4(ATP13A2):c.1947C>G (p.Pro649=) rs369722835
NM_022089.4(ATP13A2):c.2517G>C (p.Lys839Asn) rs2076866081
NM_022089.4(ATP13A2):c.2563G>A (p.Ala855Thr) rs886045579
NM_022089.4(ATP13A2):c.2808C>T (p.Tyr936=) rs886045578
NM_022089.4(ATP13A2):c.2927T>G (p.Val976Gly) rs776148733
NM_022089.4(ATP13A2):c.2983del (p.Ala995fs) rs1414662479
NM_022089.4(ATP13A2):c.3111C>T (p.Ala1037=) rs538236343
NM_022089.4(ATP13A2):c.3258G>C (p.Ala1086=) rs377253172
NM_022089.4(ATP13A2):c.3301C>T (p.Leu1101Phe) rs886045577
NM_022089.4(ATP13A2):c.840G>T (p.Lys280Asn) rs1326739914
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.504C>T (p.Asp168=) rs886056935

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