List of variants reported as pathogenic for Juvenile retinoschisis

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Total variants: 30

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HGVS	dbSNP	gnomAD frequency
NM_000330.4(RS1):c.325G>C (p.Gly109Arg)	rs104894934	0.00002
NM_000330.4(RS1):c.214G>A (p.Glu72Lys)	rs104894928	0.00001
NM_000330.4(RS1):c.221G>T (p.Gly74Val)	rs104894933	0.00001
NM_000330.4(RS1):c.304C>T (p.Arg102Trp)	rs61752067	0.00001
NM_000330.4(RS1):c.305G>A (p.Arg102Gln)	rs61752068	0.00001
NM_000330.4(RS1):c.544C>T (p.Arg182Cys)	rs61753171	0.00001
NM_000330.4(RS1):c.103C>T (p.Gln35Ter)
NM_000330.4(RS1):c.160_163dup (p.Thr55fs)	rs281865342
NM_000330.4(RS1):c.185-1G>C	rs281865344
NM_000330.4(RS1):c.199_206dup (p.Gly70fs)	rs1927824776
NM_000330.4(RS1):c.208G>A (p.Gly70Ser)	rs62645894
NM_000330.4(RS1):c.214G>C (p.Glu72Gln)	rs104894928
NM_000330.4(RS1):c.216G>C (p.Glu72Asp)	rs104894932
NM_000330.4(RS1):c.266A>G (p.Tyr89Cys)	rs61752060
NM_000330.4(RS1):c.286T>C (p.Trp96Arg)	rs61752063
NM_000330.4(RS1):c.287G>A (p.Trp96Ter)	rs2147193970
NM_000330.4(RS1):c.349C>T (p.Gln117Ter)	rs199469696
NM_000330.4(RS1):c.366G>A (p.Trp122Ter)	rs61752147
NM_000330.4(RS1):c.377A>G (p.Asp126Gly)
NM_000330.4(RS1):c.38T>C (p.Leu13Pro)	rs104894935
NM_000330.4(RS1):c.421C>T (p.Arg141Cys)	rs61752158
NM_000330.4(RS1):c.461A>G (p.Gln154Arg)	rs2147191205
NM_000330.4(RS1):c.53-1G>A	rs1928241490
NM_000330.4(RS1):c.574C>T (p.Pro192Ser)	rs61753174
NM_000330.4(RS1):c.579del (p.Ile194fs)	rs199469697
NM_000330.4(RS1):c.579dup (p.Ile194fs)	rs199469697
NM_000330.4(RS1):c.589C>T (p.Arg197Cys)	rs281865354
NM_000330.4(RS1):c.608C>T (p.Pro203Leu)	rs104894930
NM_000330.4(RS1):c.637C>T (p.Arg213Trp)	rs281865365
NM_000330.4(RS1):c.667T>C (p.Cys223Arg)	rs104894929

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