ClinVar Miner

List of variants in gene RB1 reported by Integrated Genetics/Laboratory Corporation of America

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Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP
NM_000321.2(RB1):c.1390-14A>T rs9535023
NM_000321.2(RB1):c.1390-17del rs753535084
NM_000321.2(RB1):c.1390-2A>G rs1555286568
NM_000321.2(RB1):c.1399C>T (p.Arg467Ter) rs398123331
NM_000321.2(RB1):c.1400_1403dup (p.Ser469fs) rs1555286570
NM_000321.2(RB1):c.1411C>T (p.Gln471Ter) rs1354030520
NM_000321.2(RB1):c.1419del (p.Phe473fs) rs1555286573
NM_000321.2(RB1):c.1421+12_1421+32del rs587781256
NM_000321.2(RB1):c.1421G>T (p.Ser474Ile) rs1555286575
NM_000321.2(RB1):c.1499-10del rs148580581
NM_000321.2(RB1):c.2521-11G>A rs4151624
NM_000321.2(RB1):c.2664-10T>A rs3092904
NM_000321.2(RB1):c.380+12T>C rs3092881

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