ClinVar Miner

List of variants in gene combination CEP290, LOC129390514 reported as pathogenic for Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_025114.4(CEP290):c.6277del (p.Val2093fs) rs771454167 0.00002
NM_025114.4(CEP290):c.6271-8T>G rs1039146791

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