ClinVar Miner

List of variants in gene RB1 reported as likely pathogenic by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Gene type:
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000321.3(RB1):c.1390-2A>G rs1555286568
NM_000321.3(RB1):c.1400_1403dup (p.Ser469fs) rs1555286570
NM_000321.3(RB1):c.1411C>T (p.Gln471Ter) rs1354030520
NM_000321.3(RB1):c.1419del (p.Phe473fs) rs1555286573
NM_000321.3(RB1):c.1421+12_1421+32del rs587781256
NM_000321.3(RB1):c.1421G>T (p.Ser474Ile) rs1555286575
NM_000321.3(RB1):c.539+1G>A rs1566187856

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