ClinVar Miner

List of variants in gene DNAJC5 reported as uncertain significance for Neuronal Ceroid-Lipofuscinosis, Recessive

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Gene type:
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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_025219.3(DNAJC5):c.*195G>A rs180676568 0.00135
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.*4065G>A rs373099874 0.00076
NM_025219.3(DNAJC5):c.*3480G>C rs577249426 0.00060
NM_025219.3(DNAJC5):c.*4387C>G rs550273913 0.00023
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_025219.3(DNAJC5):c.*2933C>T rs886056946 0.00010
NM_025219.3(DNAJC5):c.*1557T>G rs542172964 0.00008
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.*1304G>A rs865818369 0.00004
NM_025219.3(DNAJC5):c.*2993C>T rs886056947 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.*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_025219.3(DNAJC5):c.*1137A>G rs886056943 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_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.*243G>A rs886056938
NM_025219.3(DNAJC5):c.*273C>G rs886056939
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.*3502_*3505del rs886056952
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.*853C>T rs6011230
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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