ClinVar Miner

List of variants reported as uncertain significance for adult neuronal ceroid lipofuscinosis by Illumina Laboratory Services, Illumina

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 139
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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_001909.5(CTSD):c.*210C>G rs528911846 0.00156
NM_025219.3(DNAJC5):c.*158A>T rs41278210 0.00148
NM_001909.5(CTSD):c.*694G>A rs751538234 0.00116
NM_025219.3(DNAJC5):c.*1220G>A rs73136582 0.00115
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_001909.5(CTSD):c.827+13T>C rs369602025 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_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_001909.5(CTSD):c.240C>T (p.Tyr80=) rs147641822 0.00019
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_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_025219.3(DNAJC5):c.*2933C>T rs886056946 0.00010
NM_001909.5(CTSD):c.-24C>T rs587780917 0.00009
NM_025219.3(DNAJC5):c.*4036G>A rs758582743 0.00009
NM_001909.5(CTSD):c.*130G>A rs1002940636 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_001909.5(CTSD):c.1084G>A (p.Gly362Arg) rs746733183 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_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.283G>A (p.Val95Ile) rs141482597 0.00004
NM_001909.5(CTSD):c.470C>T (p.Ser157Leu) rs587779409 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_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_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.946G>A (p.Gly316Arg) rs764766572 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_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_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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