ClinVar Miner

List of variants studied for Neuronal Ceroid-Lipofuscinosis, Recessive

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ClinVar version:
Total variants: 143
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HGVS dbSNP gnomAD frequency
NM_000310.4(PPT1):c.*526_*529dup rs397730033 0.65899
NM_017882.2(CLN6):c.*1157A>G rs8028241 0.58511
NM_025219.3(DNAJC5):c.*2912C>T rs749723 0.17505
NM_025219.3(DNAJC5):c.*1442A>G rs61744085 0.08435
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.322-10C>T rs78457562 0.07717
NM_025219.3(DNAJC5):c.*1303C>T rs41278214 0.06711
NM_025219.3(DNAJC5):c.*2725G>A rs11554628 0.06691
NM_025219.3(DNAJC5):c.*2208C>T rs11554631 0.06117
NM_025219.3(DNAJC5):c.*2601C>T rs112103063 0.06085
NM_000391.4(TPP1):c.381-10dup rs146315473 0.02726
NM_025219.3(DNAJC5):c.*4007G>C rs77777268 0.02556
NM_025219.3(DNAJC5):c.*4385A>T rs77335831 0.01815
NM_025219.3(DNAJC5):c.*4300C>T rs41278224 0.01781
NM_025219.3(DNAJC5):c.144C>T (p.Pro48=) rs113987077 0.01342
NM_025219.3(DNAJC5):c.*3670A>G rs77107548 0.01329
NM_025219.3(DNAJC5):c.*4117C>T rs11554630 0.01268
NM_025219.3(DNAJC5):c.*895C>G rs1064345 0.01026
NM_025219.3(DNAJC5):c.*3629A>G rs73136585 0.00578
NM_025219.3(DNAJC5):c.*2878T>C rs749724 0.00565
NM_025219.3(DNAJC5):c.*817C>T rs114525694 0.00491
NM_025219.3(DNAJC5):c.*1364C>T rs61735744 0.00449
NM_025219.3(DNAJC5):c.*909G>T rs114038171 0.00395
NM_025219.3(DNAJC5):c.*1235C>T rs149675982 0.00347
NM_025219.3(DNAJC5):c.*1342G>A rs41278218 0.00334
NM_025219.3(DNAJC5):c.132C>T (p.Pro44=) rs140948457 0.00314
NM_025219.3(DNAJC5):c.*3204C>T rs140377993 0.00248
NM_025219.3(DNAJC5):c.*1820C>A rs182604967 0.00237
NM_025219.3(DNAJC5):c.*1183G>T rs562364964 0.00208
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.*1433G>A rs41278220 0.00125
NM_025219.3(DNAJC5):c.*1220G>A rs73136582 0.00115
NM_025219.3(DNAJC5):c.*1556A>G rs58526294 0.00108
NM_025219.3(DNAJC5):c.*3269C>G rs528394634 0.00107
NM_025219.3(DNAJC5):c.*2218A>G rs142121195 0.00106
NM_025219.3(DNAJC5):c.-109A>G rs750302498 0.00102
NM_025219.3(DNAJC5):c.*2790C>T rs55665472 0.00101
NM_025219.3(DNAJC5):c.107+10C>T rs181906972 0.00101
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_025219.3(DNAJC5):c.*3413A>G rs150408300 0.00071
NM_025219.3(DNAJC5):c.45A>G (p.Ser15=) rs144141585 0.00066
NM_025219.3(DNAJC5):c.*3480G>C rs577249426 0.00060
NM_000391.3(TPP1):c.-40T>C rs200184958 0.00053
NM_025219.3(DNAJC5):c.*1630C>T rs527390994 0.00050
NM_000391.4(TPP1):c.*314del rs202155605 0.00041
NM_000310.4(PPT1):c.451C>T (p.Arg151Ter) rs137852700 0.00038
NM_025219.3(DNAJC5):c.*4129G>C rs191412647 0.00034
NM_025219.3(DNAJC5):c.*4131C>T rs146360147 0.00032
NM_025219.3(DNAJC5):c.*4387C>G rs550273913 0.00023
NM_025219.3(DNAJC5):c.-160G>C rs886056930 0.00021
NM_001371596.2(MFSD8):c.*2386del rs143272176 0.00020
NM_025219.3(DNAJC5):c.*3432G>A rs1051821 0.00016
NM_000310.4(PPT1):c.*998G>C rs909689539 0.00015
NM_025219.3(DNAJC5):c.*1182C>T rs753503517 0.00015
NM_025219.3(DNAJC5):c.*3116T>A rs886056949 0.00014
NM_025219.3(DNAJC5):c.*3375C>T rs886056951 0.00013
NM_025219.2(DNAJC5):c.*4455C>T rs74554553 0.00011
NM_025219.3(DNAJC5):c.*2933C>T rs886056946 0.00010
NM_025219.3(DNAJC5):c.*1557T>G rs542172964 0.00008
NM_025219.3(DNAJC5):c.*322G>A rs143646564 0.00008
NM_025219.3(DNAJC5):c.*728G>A rs150670642 0.00008
NM_025219.3(DNAJC5):c.-186C>T rs886056927 0.00007
NM_000391.4(TPP1):c.*1412T>G rs886048535 0.00006
NM_025219.3(DNAJC5):c.*1079T>C rs370539010 0.00006
NM_025219.3(DNAJC5):c.*276C>T rs764108980 0.00006
NM_025219.3(DNAJC5):c.-95G>C rs886056932 0.00006
NM_000310.4(PPT1):c.*812C>T rs761216672 0.00005
NM_025219.3(DNAJC5):c.*1643T>C rs142546412 0.00005
NM_025219.3(DNAJC5):c.*1304G>A rs865818369 0.00004
NM_025219.3(DNAJC5):c.*2993C>T rs886056947 0.00004
NM_025219.3(DNAJC5):c.108-3C>T rs541118679 0.00004
NM_025219.3(DNAJC5):c.*1391G>A rs886056944 0.00003
NM_025219.3(DNAJC5):c.*3257C>T rs754263293 0.00003
NM_025219.3(DNAJC5):c.-185G>T rs886056928 0.00003
NM_017882.3(CLN6):c.*140_*143del rs754855292 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.444C>T (p.Phe148=) rs772254851 0.00002
NM_000310.4(PPT1):c.*474T>C rs1057515555 0.00001
NM_000391.4(TPP1):c.*1715T>C rs886048533 0.00001
NM_000391.4(TPP1):c.*668C>A rs886048539 0.00001
NM_017882.3(CLN6):c.*132C>T rs886051445 0.00001
NM_025219.3(DNAJC5):c.*1137A>G rs886056943 0.00001
NM_025219.3(DNAJC5):c.*1604C>T rs554749952 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.*686C>T rs886056942 0.00001
NM_025219.3(DNAJC5):c.*80A>G rs886056936 0.00001
NM_025219.3(DNAJC5):c.-33G>A rs886056934 0.00001
NM_025219.3(DNAJC5):c.122A>G (p.Lys41Arg) rs528096976 0.00001
NM_000310.4(PPT1):c.*1286AAG[1] rs111872097
NM_000310.4(PPT1):c.*1300dup rs1057515553
NM_000391.3(TPP1):c.-33C>G rs757508432
NM_000391.4(TPP1):c.*1216dup rs575737269
NM_000391.4(TPP1):c.887-5del rs886048540
NM_000391.4(TPP1):c.887-6_887-5del rs886048541
NM_000391.4(TPP1):c.887-6del rs35039601
NM_000391.4(TPP1):c.887-7_887-6del rs35039601
NM_001371596.2(MFSD8):c.*469dup rs746048384
NM_001371596.2(MFSD8):c.1516C>G (p.Leu506Val) rs570757797
NM_017882.2(CLN6):c.-178_-169delTCCGCTCCGC rs55672378
NM_017882.3(CLN6):c.*141GT[11] rs3837692
NM_017882.3(CLN6):c.*141GT[12] rs3837692
NM_017882.3(CLN6):c.*141GT[13] rs3837692
NM_017882.3(CLN6):c.*141GT[8] rs3837692
NM_017882.3(CLN6):c.349ATC[2] (p.Ile119del) rs886051447
NM_025219.2(DNAJC5):c.*4454G>A rs886056956
NM_025219.3(DNAJC5):c.*135C>T rs886056937
NM_025219.3(DNAJC5):c.*1391G>C rs886056944
NM_025219.3(DNAJC5):c.*1895C>G rs886056945
NM_025219.3(DNAJC5):c.*2191G>C rs550048168
NM_025219.3(DNAJC5):c.*243G>A rs886056938
NM_025219.3(DNAJC5):c.*2723A>G rs76769576
NM_025219.3(DNAJC5):c.*273C>G rs886056939
NM_025219.3(DNAJC5):c.*2765_*2770del rs375427318
NM_025219.3(DNAJC5):c.*2913G>A rs539536316
NM_025219.3(DNAJC5):c.*3009G>A rs886056948
NM_025219.3(DNAJC5):c.*3239C>T rs886056950
NM_025219.3(DNAJC5):c.*3252G>A rs545688443
NM_025219.3(DNAJC5):c.*3502_*3505del rs886056952
NM_025219.3(DNAJC5):c.*4070C>G rs3810500
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.*727C>A rs75130625
NM_025219.3(DNAJC5):c.*727C>G rs75130625
NM_025219.3(DNAJC5):c.*853C>G rs6011230
NM_025219.3(DNAJC5):c.*853C>T rs6011230
NM_025219.3(DNAJC5):c.-140GCC[8] rs531246320
NM_025219.3(DNAJC5):c.-140GCC[9] rs531246320
NM_025219.3(DNAJC5):c.-160_-155dup rs886056929
NM_025219.3(DNAJC5):c.-184CTGCCG[5] rs563818595
NM_025219.3(DNAJC5):c.-194C>T rs886056925
NM_025219.3(DNAJC5):c.-89C>G rs886056933
NM_025219.3(DNAJC5):c.438G>A (p.Thr146=) rs746222594
NM_025219.3(DNAJC5):c.504C>T (p.Asp168=) rs886056935

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