ClinVar Miner

List of variants in gene RBM20 reported as likely pathogenic for not provided

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_001134363.3(RBM20):c.1867C>T (p.Arg623Trp) rs794729148 0.00003
NM_001134363.3(RBM20):c.1338-1G>T rs1265727354 0.00002
NM_001134363.3(RBM20):c.2176C>T (p.Arg726Ter) rs1393804220 0.00001
NM_001134363.3(RBM20):c.1607T>C (p.Ile536Thr) rs794729145
NM_001134363.3(RBM20):c.1900C>T (p.Arg634Trp) rs796734066
NM_001134363.3(RBM20):c.1913C>A (p.Pro638Gln) rs267607003
NM_001134363.3(RBM20):c.2501dup (p.Asp834fs) rs794729159
NM_001134363.3(RBM20):c.2737G>A (p.Glu913Lys) rs397516607
NM_001134363.3(RBM20):c.2802del (p.Ile935fs) rs2135121046
NM_001134363.3(RBM20):c.3261_3262delinsG (p.Ser1087fs) rs727504763
NM_001134363.3(RBM20):c.3267dup (p.Ile1090fs) rs760334885
NM_001134363.3(RBM20):c.460C>T (p.Gln154Ter) rs2135041646

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