ClinVar Miner

List of variants reported as likely pathogenic for Cone-rod dystrophy 3; Age related macular degeneration 2; Severe early-childhood-onset retinal dystrophy; Retinitis pigmentosa 19 by Juno Genomics, Hangzhou Juno Genomics, Inc

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000350.3(ABCA4):c.203C>T (p.Pro68Leu)	rs62654397	0.00001
NM_000350.3(ABCA4):c.1835A>C (p.Gln612Pro)
NM_000350.3(ABCA4):c.5461-6T>G
NM_000350.3(ABCA4):c.983A>T (p.Glu328Val)	rs61751419

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