ClinVar Miner

List of variants studied for Retinoblastoma by Genetics Program, Instituto Nacional de Cancer

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000321.3(RB1):c.1215+1G>A rs587776783
NM_000321.3(RB1):c.1498+2T>G rs1948523741
NM_000321.3(RB1):c.1901C>G (p.Ser634Ter) rs1949359603
NM_000321.3(RB1):c.1960+1G>T rs1949360306
NM_000321.3(RB1):c.2035_2038dup (p.Ile680fs) rs1949384403
NM_000321.3(RB1):c.380+1G>A rs1131690902
NM_000321.3(RB1):c.763C>T (p.Arg255Ter) rs587778842

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