ClinVar Miner

List of variants in gene combination CEP290, LOC129390514 reported as likely benign by Genetic Services Laboratory, University of Chicago

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Gene type:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_025114.4(CEP290):c.6357+20A>T rs7971699 0.05185
NM_025114.4(CEP290):c.6336G>T (p.Arg2112=) rs1475220538

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