ClinVar Miner

List of variants reported as pathogenic for Juvenile retinoschisis by Counsyl

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000330.4(RS1):c.305G>A (p.Arg102Gln) rs61752068 0.00001
NM_000330.4(RS1):c.208G>A (p.Gly70Ser) rs62645894
NM_000330.4(RS1):c.608C>T (p.Pro203Leu) rs104894930

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