ClinVar Miner

List of variants studied for Cone-rod synaptic disorder, congenital nonprogressive by Genome-Nilou Lab

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_145200.5(CABP4):c.541+7C>G rs1638564 0.53792
NM_145200.5(CABP4):c.800-5C>T rs72934713 0.05627
NM_145200.5(CABP4):c.541+8A>C rs1638565

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