ClinVar Miner

List of variants reported as pathogenic for Cone-rod synaptic disorder, congenital nonprogressive by Genomics England Pilot Project, Genomics England

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_145200.5(CABP4):c.292C>T (p.Arg98Ter)	rs777555935	0.00002
NM_145200.5(CABP4):c.673C>T (p.Arg225Ter)	rs531851447	0.00002
NM_145200.5(CABP4):c.154C>T (p.Arg52Ter)	rs745382789

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