ClinVar Miner

List of variants in gene RB1 reported as not provided by ITMI

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Gene type:
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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_000321.3(RB1):c.1574C>G (p.Ala525Gly) rs4151539 0.00623
NM_000321.3(RB1):c.920C>T (p.Thr307Ile) rs183898408 0.00079
NM_000321.3(RB1):c.59C>T (p.Pro20Leu) rs587778637 0.00011
NM_000321.3(RB1):c.1862G>A (p.Arg621His) rs373601944 0.00009
NM_000321.3(RB1):c.1573G>A (p.Ala525Thr) rs587778640 0.00004
NM_000321.3(RB1):c.173C>T (p.Thr58Ile) rs138574644 0.00004
NM_000321.3(RB1):c.1898C>T (p.Thr633Ile) rs587778641 0.00002
NM_000321.3(RB1):c.2318C>T (p.Ser773Phe) rs267603841 0.00001
NM_000321.3(RB1):c.1677A>T (p.Glu559Asp) rs587778639
NM_000321.3(RB1):c.1861C>A (p.Arg621Ser) rs367578442
NM_000321.3(RB1):c.2260G>C (p.Val754Leu) rs587778642
NM_000321.3(RB1):c.43G>C (p.Ala15Pro) rs587778638
NM_000321.3(RB1):c.45_53del (p.Ala16_Ala18del) rs572454921

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