ClinVar Miner

List of variants in gene RB1 reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_000321.3(RB1):c.42C>T (p.Ala14=) rs148980395 0.00162
NM_000321.3(RB1):c.380+10C>G rs187110786 0.00158
NM_000321.3(RB1):c.1961-12T>C rs201697122 0.00104
NM_000321.3(RB1):c.1770T>C (p.Cys590=) rs145310579 0.00062
NM_000321.3(RB1):c.1966C>T (p.Arg656Trp) rs142509759 0.00059
NM_000321.3(RB1):c.1707A>G (p.Leu569=) rs3092895 0.00052
NM_000321.3(RB1):c.2463A>G (p.Thr821=) rs370088029 0.00011
NM_000321.3(RB1):c.124C>T (p.Leu42=) rs1312883856 0.00001
NM_000321.3(RB1):c.2277C>T (p.Val759=) rs1949430859 0.00001
NM_000321.3(RB1):c.539C>T (p.Ser180Leu) rs367654488 0.00001
NM_000321.3(RB1):c.1131T>C (p.Thr377=) rs1414284893
NM_000321.3(RB1):c.1421+27T>A
NM_000321.3(RB1):c.1470T>A (p.Ala490=)
NM_000321.3(RB1):c.15C>A (p.Thr5=) rs1593411934
NM_000321.3(RB1):c.2062C>T (p.Leu688=)
NM_000321.3(RB1):c.207T>C (p.His69=) rs759594127
NM_000321.3(RB1):c.2232C>A (p.Ile744=)
NM_000321.3(RB1):c.2310G>A (p.Gln770=) rs777040395
NM_000321.3(RB1):c.2406G>A (p.Gly802=) rs866638680
NM_000321.3(RB1):c.2455C>T (p.Leu819=) rs375751988
NM_000321.3(RB1):c.265-9576C>T
NM_000321.3(RB1):c.608-4del rs762805947
NM_000321.3(RB1):c.72G>C (p.Pro24=) rs1333596916

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