List of variants reported as pathogenic for retinal disorder by Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000321.3(RB1):c.1215+1G>A	rs587776783
NM_000321.3(RB1):c.1215+2T>C	rs1060503074
NM_000321.3(RB1):c.1633G>T (p.Glu545Ter)	rs1948534542
NM_000321.3(RB1):c.1735C>T (p.Arg579Ter)	rs121913305
NM_000321.3(RB1):c.1770del (p.Pro591fs)	rs1949338513
NM_000321.3(RB1):c.473T>A (p.Leu158Ter)	rs1952481401

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