ClinVar Miner

List of variants reported as pathogenic for Retinal macular dystrophy type 2

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_006017.3(PROM1):c.1142-1G>A	rs752619497	0.00001
NM_006017.3(PROM1):c.1117C>T (p.Arg373Cys)	rs137853006
NM_006017.3(PROM1):c.2215del (p.Thr739fs)	rs2149078995

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