ClinVar Miner

List of variants studied for retinal cell cancer by Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000321.3(RB1):c.929G>A (p.Gly310Glu) rs200844292 0.00029
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.1961T>A (p.Val654Glu) rs769113950
NM_000321.3(RB1):c.1964A>G (p.Tyr655Cys) rs774196937
NM_000321.3(RB1):c.473T>A (p.Leu158Ter) rs1952481401

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