ClinVar Miner

List of variants studied for Leber congenital amaurosis 7 by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000554.6(CRX):c.425A>G (p.Tyr142Cys)	rs61748442	0.00032
NM_000554.6(CRX):c.124G>A (p.Glu42Lys)	rs863224863

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