ClinVar Miner

List of variants in gene CEP290 reported as likely pathogenic for Meckel syndrome, type 1

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_025114.3(CEP290):c.1523-1G>T rs1192112844
NM_025114.3(CEP290):c.180+1G>A rs758593134
NM_025114.3(CEP290):c.4437+1G>A rs760915898
NM_025114.3(CEP290):c.4438-3delC rs747323414
NM_025114.3(CEP290):c.4813-2A>G rs369523378
NM_025114.3(CEP290):c.6358-1G>A rs766670248

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