List of variants in gene RS1 studied for Juvenile retinoschisis

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_000330.4(RS1):c.184+35T>C	rs6633109	0.02347
NM_000330.4(RS1):c.76G>A (p.Glu26Lys)	rs140983930	0.00308
NM_000330.4(RS1):c.184+9C>T	rs377631416	0.00010
NM_000330.4(RS1):c.88G>A (p.Glu30Lys)	rs146477940	0.00010
NM_000330.4(RS1):c.7C>G (p.Arg3Gly)	rs571944937	0.00005
NM_000330.4(RS1):c.41T>C (p.Phe14Ser)	rs766906113	0.00001
NM_000330.4(RS1):c.101dup (p.Tyr34Ter)
NM_000330.4(RS1):c.103C>T (p.Gln35Ter)
NM_000330.4(RS1):c.131dup (p.Gly45fs)	rs2147203103
NM_000330.4(RS1):c.150G>A (p.Trp50Ter)	rs200866925
NM_000330.4(RS1):c.160_163dup (p.Thr55fs)	rs281865342
NM_000330.4(RS1):c.184+1G>A
NM_000330.4(RS1):c.184+2T>C
NM_000330.4(RS1):c.38T>C (p.Leu13Pro)	rs104894935
NM_000330.4(RS1):c.52+3A>G	rs2147209764
NM_000330.4(RS1):c.53-1G>A	rs1928241490
NM_000330.4(RS1):c.53-713_78+266del
NM_000330.4(RS1):c.60_64del (p.Leu20fs)

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