ClinVar Miner

List of variants in gene RBM20 reported by Agnes Ginges Centre for Molecular Cardiology, Centenary Institute

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001134363.3(RBM20):c.2662G>A (p.Asp888Asn) rs201370621 0.00344
NM_001134363.3(RBM20):c.2333C>T (p.Ala778Val) rs397516602 0.00002
NM_001134363.3(RBM20):c.536G>A (p.Gly179Asp) rs727504943 0.00001
NM_001134363.3(RBM20):c.1904C>A (p.Ser635Tyr) rs1114167331
NM_001134363.3(RBM20):c.523A>C (p.Ser175Arg) rs553309602

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