ClinVar Miner

List of variants in gene CEP41 studied for Joubert syndrome 1

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_018718.2(CEP41):c.-144G>A rs10230435 0.08654
NM_018718.2(CEP41):c.-243G>A rs542293061 0.00425
NM_018718.3(CEP41):c.*3741A>T rs532169706 0.00076
NM_018718.3(CEP41):c.786G>A (p.Pro262=) rs782460743 0.00005
NM_018718.3(CEP41):c.678C>T (p.Asp226=) rs545406161 0.00001
NM_018718.2(CEP41):c.-178C>A rs10230670
NM_018718.2(CEP41):c.-178C>T rs10230670
NM_018718.2(CEP41):c.-244A>T rs886062003
NM_018718.3(CEP41):c.*1357del rs886061999
NM_018718.3(CEP41):c.*1384del rs55776575
NM_018718.3(CEP41):c.*1384dup rs55776575
NM_018718.3(CEP41):c.*1386dup rs886061997
NM_018718.3(CEP41):c.*3526dup rs3839655

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