ClinVar Miner

List of variants in gene CEP290 reported as uncertain significance by Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_025114.4(CEP290):c.341G>A (p.Arg114His)	rs150296134	0.00073
NM_025114.4(CEP290):c.2615C>T (p.Ser872Leu)	rs373341530	0.00030

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