ClinVar Miner

List of variants studied for CEP290-related ciliopathy by DNA-diagnostics Laboratory, Research Centre For Medical Genetics

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_025114.4(CEP290):c.7015C>T (p.Arg2339Trp) rs200969981 0.00019
NM_025114.4(CEP290):c.3154A>G (p.Ile1052Val)
NM_025114.4(CEP290):c.6596C>T (p.Thr2199Ile)

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