ClinVar Miner

List of variants reported as likely pathogenic for Cone-rod synaptic disorder, congenital nonprogressive

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_001348484.3(RIMS2):c.2995+2T>C
NM_145200.5(CABP4):c.145C>T (p.Arg49Ter)
NM_145200.5(CABP4):c.256del (p.Ala86fs)
NM_145200.5(CABP4):c.625C>T (p.Arg209Ter)	rs779788706

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