ClinVar Miner

List of variants reported as pathogenic for Enhanced S-cone syndrome by Hadassah Hebrew University Medical Center

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_014249.4(NR2E3):c.119-2A>C	rs2723341	0.00038
NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln)	rs28937873	0.00032

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