ClinVar Miner

List of variants in gene C12orf29, CEP290 studied for Joubert syndrome 1

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP
NM_001009894.3(C12orf29):c.*618_*621TATT[1] rs886049876
NM_001009894.3(C12orf29):c.*743_*746del rs142288119
NM_001009894.3(C12orf29):c.*786A>T rs794727762
NM_001009894.3(C12orf29):c.*827G>A rs754398792
NM_001009894.3(C12orf29):c.*837T>C rs765709669
NM_001009894.3(C12orf29):c.*870_*874CTTCT[3]
NM_001009894.3(C12orf29):c.*891C>A rs534440681
NM_001009894.3(C12orf29):c.*926C>T rs200178519
NM_025114.3(CEP290):c.4438-318_7243del

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