ClinVar Miner

List of variants in gene DNAJC5 studied for Neuronal Ceroid-Lipofuscinosis, Recessive

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Gene type:
ClinVar version:
Total variants: 112
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HGVS dbSNP
NM_025219.2(DNAJC5):c.*4454G>A rs886056956
NM_025219.2(DNAJC5):c.*4455C>T rs74554553
NM_025219.3(DNAJC5):c.*1079T>C rs370539010
NM_025219.3(DNAJC5):c.*1106T>G rs11554629
NM_025219.3(DNAJC5):c.*1137A>G rs886056943
NM_025219.3(DNAJC5):c.*1182C>T rs753503517
NM_025219.3(DNAJC5):c.*1183G>T rs562364964
NM_025219.3(DNAJC5):c.*1220G>A rs73136582
NM_025219.3(DNAJC5):c.*1235C>T rs149675982
NM_025219.3(DNAJC5):c.*1303C>T rs41278214
NM_025219.3(DNAJC5):c.*1304G>A rs865818369
NM_025219.3(DNAJC5):c.*1342G>A rs41278218
NM_025219.3(DNAJC5):c.*135C>T rs886056937
NM_025219.3(DNAJC5):c.*1364C>T rs61735744
NM_025219.3(DNAJC5):c.*1391G>A rs886056944
NM_025219.3(DNAJC5):c.*1391G>C rs886056944
NM_025219.3(DNAJC5):c.*1433G>A rs41278220
NM_025219.3(DNAJC5):c.*1442A>G rs61744085
NM_025219.3(DNAJC5):c.*1556A>G rs58526294
NM_025219.3(DNAJC5):c.*1557T>G rs542172964
NM_025219.3(DNAJC5):c.*1604C>T rs554749952
NM_025219.3(DNAJC5):c.*1630C>T rs527390994
NM_025219.3(DNAJC5):c.*1643T>C rs142546412
NM_025219.3(DNAJC5):c.*1648C>T rs41278222
NM_025219.3(DNAJC5):c.*1820C>A rs182604967
NM_025219.3(DNAJC5):c.*1895C>G rs886056945
NM_025219.3(DNAJC5):c.*195G>A rs180676568
NM_025219.3(DNAJC5):c.*2039C>T rs79245733
NM_025219.3(DNAJC5):c.*2191G>C rs550048168
NM_025219.3(DNAJC5):c.*2208C>T rs11554631
NM_025219.3(DNAJC5):c.*2218A>G rs142121195
NM_025219.3(DNAJC5):c.*243G>A rs886056938
NM_025219.3(DNAJC5):c.*2545C>G rs577579444
NM_025219.3(DNAJC5):c.*2601C>T rs112103063
NM_025219.3(DNAJC5):c.*2701C>T rs3206771
NM_025219.3(DNAJC5):c.*2711G>A rs76291580
NM_025219.3(DNAJC5):c.*2723A>G rs76769576
NM_025219.3(DNAJC5):c.*2725G>A rs11554628
NM_025219.3(DNAJC5):c.*273C>G rs886056939
NM_025219.3(DNAJC5):c.*2765_*2770del rs375427318
NM_025219.3(DNAJC5):c.*276C>T rs764108980
NM_025219.3(DNAJC5):c.*2790C>T rs55665472
NM_025219.3(DNAJC5):c.*286G>A rs886056940
NM_025219.3(DNAJC5):c.*2878T>C rs749724
NM_025219.3(DNAJC5):c.*2912C>T rs749723
NM_025219.3(DNAJC5):c.*2913G>A rs539536316
NM_025219.3(DNAJC5):c.*2933C>T rs886056946
NM_025219.3(DNAJC5):c.*2993C>T rs886056947
NM_025219.3(DNAJC5):c.*3009G>A rs886056948
NM_025219.3(DNAJC5):c.*3116T>A rs886056949
NM_025219.3(DNAJC5):c.*3204C>T rs140377993
NM_025219.3(DNAJC5):c.*322G>A rs143646564
NM_025219.3(DNAJC5):c.*3239C>T rs886056950
NM_025219.3(DNAJC5):c.*3252G>A rs545688443
NM_025219.3(DNAJC5):c.*3257C>T rs754263293
NM_025219.3(DNAJC5):c.*3269C>G rs528394634
NM_025219.3(DNAJC5):c.*3375C>T rs886056951
NM_025219.3(DNAJC5):c.*3413A>G rs150408300
NM_025219.3(DNAJC5):c.*3432G>A rs1051821
NM_025219.3(DNAJC5):c.*3480G>C rs577249426
NM_025219.3(DNAJC5):c.*3502_*3505del rs886056952
NM_025219.3(DNAJC5):c.*3629A>G rs73136585
NM_025219.3(DNAJC5):c.*3670A>G rs77107548
NM_025219.3(DNAJC5):c.*3870G>A rs886056953
NM_025219.3(DNAJC5):c.*4006C>T rs138866062
NM_025219.3(DNAJC5):c.*4007G>C rs77777268
NM_025219.3(DNAJC5):c.*4057C>T rs886056954
NM_025219.3(DNAJC5):c.*4065G>A rs373099874
NM_025219.3(DNAJC5):c.*4070C>G rs3810500
NM_025219.3(DNAJC5):c.*4070C>T rs3810500
NM_025219.3(DNAJC5):c.*4117C>T rs11554630
NM_025219.3(DNAJC5):c.*4129G>C rs191412647
NM_025219.3(DNAJC5):c.*412C>T rs886056941
NM_025219.3(DNAJC5):c.*4131C>T rs146360147
NM_025219.3(DNAJC5):c.*4253C>G rs886056955
NM_025219.3(DNAJC5):c.*4300C>T rs41278224
NM_025219.3(DNAJC5):c.*4385A>T rs77335831
NM_025219.3(DNAJC5):c.*4387C>G rs550273913
NM_025219.3(DNAJC5):c.*686C>T rs886056942
NM_025219.3(DNAJC5):c.*727C>A rs75130625
NM_025219.3(DNAJC5):c.*727C>G rs75130625
NM_025219.3(DNAJC5):c.*728G>A rs150670642
NM_025219.3(DNAJC5):c.*750G>T rs140106848
NM_025219.3(DNAJC5):c.*80A>G rs886056936
NM_025219.3(DNAJC5):c.*817C>T rs114525694
NM_025219.3(DNAJC5):c.*853C>G rs6011230
NM_025219.3(DNAJC5):c.*853C>T rs6011230
NM_025219.3(DNAJC5):c.*895C>G rs1064345
NM_025219.3(DNAJC5):c.*909G>T rs114038171
NM_025219.3(DNAJC5):c.-109A>G rs750302498
NM_025219.3(DNAJC5):c.-140_-138GCC[8] rs531246320
NM_025219.3(DNAJC5):c.-140_-138GCC[9] rs531246320
NM_025219.3(DNAJC5):c.-160G>C rs886056930
NM_025219.3(DNAJC5):c.-160_-155dup rs886056929
NM_025219.3(DNAJC5):c.-184_-179CTGCCG[5] rs563818595
NM_025219.3(DNAJC5):c.-185G>T rs886056928
NM_025219.3(DNAJC5):c.-186C>T rs886056927
NM_025219.3(DNAJC5):c.-194C>T rs886056925
NM_025219.3(DNAJC5):c.-33G>A rs886056934
NM_025219.3(DNAJC5):c.-89C>G rs886056933
NM_025219.3(DNAJC5):c.-95G>C rs886056932
NM_025219.3(DNAJC5):c.107+10C>T rs181906972
NM_025219.3(DNAJC5):c.107+12A>G rs372843187
NM_025219.3(DNAJC5):c.108-3C>T rs541118679
NM_025219.3(DNAJC5):c.122A>G (p.Lys41Arg) rs528096976
NM_025219.3(DNAJC5):c.132C>T (p.Pro44=) rs140948457
NM_025219.3(DNAJC5):c.144C>T (p.Pro48=) rs113987077
NM_025219.3(DNAJC5):c.322-10C>T rs78457562
NM_025219.3(DNAJC5):c.438G>A (p.Thr146=) rs746222594
NM_025219.3(DNAJC5):c.444C>T (p.Phe148=) rs772254851
NM_025219.3(DNAJC5):c.45A>G (p.Ser15=) rs144141585
NM_025219.3(DNAJC5):c.504C>T (p.Asp168=) rs886056935

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