List of variants reported as pathogenic for Retinoblastoma by Genetics and Molecular Pathology, SA Pathology

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000321.3(RB1):c.1981C>T (p.Arg661Trp)	rs137853294	0.00002
NM_000321.3(RB1):c.1215+1G>A	rs587776783
NM_000321.3(RB1):c.1399C>T (p.Arg467Ter)	rs398123331
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.2242G>T (p.Glu748Ter)	rs121913297
NM_000321.3(RB1):c.2663+1G>A	rs2138359672
NM_000321.3(RB1):c.409G>T (p.Glu137Ter)	rs121913296
NM_000321.3(RB1):c.619C>T (p.Gln207Ter)	rs2138107604
NM_000321.3(RB1):c.751C>T (p.Arg251Ter)	rs1131690863
NM_000321.3(RB1):c.763C>T (p.Arg255Ter)	rs587778842
NM_000321.3(RB1):c.958C>T (p.Arg320Ter)	rs121913300

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