ClinVar Miner

List of variants in gene RBM20 reported by Stanford Center for Inherited Cardiovascular Disease, Stanford University

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Total variants: 18
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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.1286T>C (p.Leu429Pro) rs61735272 0.00126
NM_001134363.3(RBM20):c.680G>T (p.Gly227Val) rs202238753 0.00066
NM_001134363.3(RBM20):c.448G>A (p.Ala150Thr) rs199868951 0.00055
NM_001134363.3(RBM20):c.850G>A (p.Gly284Arg) rs201148126 0.00025
NM_001134363.3(RBM20):c.925G>A (p.Gly309Arg) rs397516625 0.00019
NM_001134363.3(RBM20):c.2231A>G (p.Asn744Ser) rs755241667 0.00003
NM_001134363.3(RBM20):c.1748G>A (p.Gly583Asp) rs767827357 0.00002
NM_001134363.3(RBM20):c.3046G>A (p.Gly1016Ser) rs794729156 0.00002
NM_001134363.3(RBM20):c.1552C>T (p.Arg518Cys) rs369835514 0.00001
NM_001134363.3(RBM20):c.1901G>A (p.Arg634Gln) rs267607001 0.00001
NM_001134363.3(RBM20):c.1222dup (p.Leu408fs) rs1564844428
NM_001134363.3(RBM20):c.1250G>A (p.Cys417Tyr) rs1060503412
NM_001134363.3(RBM20):c.1309G>T (p.Ala437Ser) rs939425427
NM_001134363.3(RBM20):c.1543G>A (p.Gly515Arg) rs1235212712
NM_001134363.3(RBM20):c.2737G>A (p.Glu913Lys) rs397516607
NM_001134363.3(RBM20):c.3584C>G (p.Ser1195Cys) rs753102653
NM_001134363.3(RBM20):c.533G>C (p.Arg178Pro) rs561085365

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