List of variants studied for Juvenile retinoschisis by Counsyl

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Total variants: 11

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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.590G>A (p.Arg197His)	rs281865355	0.00001
NM_000330.4(RS1):c.208G>A (p.Gly70Ser)	rs62645894
NM_000330.4(RS1):c.266A>G (p.Tyr89Cys)	rs61752060
NM_000330.4(RS1):c.422G>A (p.Arg141His)	rs61752159
NM_000330.4(RS1):c.498C>A (p.Tyr166Ter)	rs1057516744
NM_000330.4(RS1):c.522+1G>A	rs281865348
NM_000330.4(RS1):c.574C>T (p.Pro192Ser)	rs61753174
NM_000330.4(RS1):c.608C>T (p.Pro203Leu)	rs104894930
NM_000330.4(RS1):c.625C>T (p.Arg209Cys)	rs281865361
NM_000330.4(RS1):c.673T>C (p.Ter225Arg)	rs1057517433

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