ClinVar Miner

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

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Gene type:
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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000321.3(RB1):c.2664-10T>A rs3092904 0.19833
NM_000321.3(RB1):c.1390-14A>T rs9535023 0.04866
NM_000321.3(RB1):c.380+12T>C rs3092881 0.01087
NM_000321.3(RB1):c.2521-11G>A rs4151624 0.00570
NM_000321.3(RB1):c.2212-6C>T rs776162179 0.00164
NM_000321.3(RB1):c.920C>T (p.Thr307Ile) rs183898408 0.00079
NM_000321.3(RB1):c.1770T>C (p.Cys590=) rs145310579 0.00062
NM_000321.3(RB1):c.1390-17del rs753535084
NM_000321.3(RB1):c.1390-17dup rs753535084
NM_000321.3(RB1):c.1499-10del rs148580581
NM_000321.3(RB1):c.45_53del (p.Ala16_Ala18del) rs572454921
NM_000321.3(RB1):c.608-4del rs762805947

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