ClinVar Miner

List of variants reported as uncertain significance for Neuronal ceroid lipofuscinosis 4B

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ClinVar version:
Total variants: 83
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HGVS dbSNP
NM_025219.3(DNAJC5):c.*1137A>G rs886056943
NM_025219.3(DNAJC5):c.*1182C>T rs753503517
NM_025219.3(DNAJC5):c.*1220G>A rs73136582
NM_025219.3(DNAJC5):c.*1304G>A rs865818369
NM_025219.3(DNAJC5):c.*135C>T rs886056937
NM_025219.3(DNAJC5):c.*1391G>A rs886056944
NM_025219.3(DNAJC5):c.*1391G>C rs886056944
NM_025219.3(DNAJC5):c.*1557T>G rs542172964
NM_025219.3(DNAJC5):c.*158A>T
NM_025219.3(DNAJC5):c.*177T>C
NM_025219.3(DNAJC5):c.*1836C>T
NM_025219.3(DNAJC5):c.*1873C>T
NM_025219.3(DNAJC5):c.*1893C>A
NM_025219.3(DNAJC5):c.*1895C>G rs886056945
NM_025219.3(DNAJC5):c.*1915C>T
NM_025219.3(DNAJC5):c.*1927G>A
NM_025219.3(DNAJC5):c.*1934T>G
NM_025219.3(DNAJC5):c.*2171G>A
NM_025219.3(DNAJC5):c.*2191G>C rs550048168
NM_025219.3(DNAJC5):c.*2385G>T
NM_025219.3(DNAJC5):c.*243G>A rs886056938
NM_025219.3(DNAJC5):c.*2482G>C
NM_025219.3(DNAJC5):c.*2545C>G rs577579444
NM_025219.3(DNAJC5):c.*2633G>A
NM_025219.3(DNAJC5):c.*273C>G rs886056939
NM_025219.3(DNAJC5):c.*274C>T
NM_025219.3(DNAJC5):c.*276C>T rs764108980
NM_025219.3(DNAJC5):c.*2849A>G
NM_025219.3(DNAJC5):c.*286G>A rs886056940
NM_025219.3(DNAJC5):c.*2913G>A rs539536316
NM_025219.3(DNAJC5):c.*2933C>T rs886056946
NM_025219.3(DNAJC5):c.*2980C>A
NM_025219.3(DNAJC5):c.*2983C>T
NM_025219.3(DNAJC5):c.*298C>T
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.*3184G>A
NM_025219.3(DNAJC5):c.*3213G>A
NM_025219.3(DNAJC5):c.*3215C>G
NM_025219.3(DNAJC5):c.*3224C>T
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.*3375C>T rs886056951
NM_025219.3(DNAJC5):c.*3480G>C rs577249426
NM_025219.3(DNAJC5):c.*3550C>T
NM_025219.3(DNAJC5):c.*3608G>C
NM_025219.3(DNAJC5):c.*3839G>A
NM_025219.3(DNAJC5):c.*3870G>A rs886056953
NM_025219.3(DNAJC5):c.*4036G>A
NM_025219.3(DNAJC5):c.*4057C>T rs886056954
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.*4317G>A
NM_025219.3(DNAJC5):c.*4375C>T
NM_025219.3(DNAJC5):c.*4387C>G rs550273913
NM_025219.3(DNAJC5):c.*458G>A
NM_025219.3(DNAJC5):c.*486G>A
NM_025219.3(DNAJC5):c.*66C>T
NM_025219.3(DNAJC5):c.*686C>T rs886056942
NM_025219.3(DNAJC5):c.*736G>A
NM_025219.3(DNAJC5):c.*80A>G rs886056936
NM_025219.3(DNAJC5):c.*853C>A
NM_025219.3(DNAJC5):c.*853C>T rs6011230
NM_025219.3(DNAJC5):c.*944A>T
NM_025219.3(DNAJC5):c.*948G>A
NM_025219.3(DNAJC5):c.-109A>G rs750302498
NM_025219.3(DNAJC5):c.-12+11T>A
NM_025219.3(DNAJC5):c.-12+15G>T
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.-89C>G rs886056933
NM_025219.3(DNAJC5):c.-95G>C rs886056932
NM_025219.3(DNAJC5):c.107+8G>T
NM_025219.3(DNAJC5):c.153G>T (p.Pro51=) rs151265913
NM_025219.3(DNAJC5):c.162G>A (p.Ala54=)
NM_025219.3(DNAJC5):c.437C>T (p.Thr146Met)
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.504C>T (p.Asp168=) rs886056935

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