ClinVar Miner

List of variants reported as pathogenic for Retinal macular dystrophy type 2 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_006017.3(PROM1):c.1142-1G>A	rs752619497	0.00001
NM_006017.3(PROM1):c.2215del (p.Thr739fs)	rs2149078995

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