ClinVar Miner

List of variants in gene RBM20 reported as benign by Ambry Genetics

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Gene type:
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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_001134363.3(RBM20):c.3667G>C (p.Glu1223Gln) rs942077 0.74386
NM_001134363.3(RBM20):c.90G>A (p.Arg30=) rs35141404 0.20903
NM_001134363.3(RBM20):c.517C>A (p.Pro173Thr) rs7908490 0.02441
NM_001134363.3(RBM20):c.695G>A (p.Gly232Asp) rs61735268 0.02395
NM_001134363.3(RBM20):c.1914G>A (p.Pro638=) rs74339620 0.01800
NM_001134363.3(RBM20):c.3144C>T (p.Ser1048=) rs75858380 0.01586
NM_001134363.3(RBM20):c.1881-3C>T rs138436392 0.00575
NM_001134363.3(RBM20):c.1364C>T (p.Ser455Leu) rs189569984 0.00554
NM_001134363.3(RBM20):c.2662G>A (p.Asp888Asn) rs201370621 0.00344
NM_001134363.3(RBM20):c.3373G>A (p.Glu1125Lys) rs116908219 0.00333
NM_001134363.3(RBM20):c.2318A>G (p.Lys773Arg) rs181769913 0.00324
NM_001134363.3(RBM20):c.1986G>A (p.Pro662=) rs537723089 0.00233
NM_001134363.3(RBM20):c.530C>T (p.Thr177Ile) rs183130427 0.00108
NM_001134363.3(RBM20):c.3170G>A (p.Arg1057Gln) rs188054898 0.00107
NM_001134363.3(RBM20):c.153G>T (p.Pro51=) rs760605118 0.00083
NM_001134363.3(RBM20):c.448G>A (p.Ala150Thr) rs199868951 0.00055
NM_001134363.3(RBM20):c.2018G>A (p.Arg673Gln) rs138926584 0.00006
NM_001134363.3(RBM20):c.3545G>A (p.Arg1182His) rs563762318 0.00006
NM_001134363.3(RBM20):c.3523A>G (p.Thr1175Ala) rs768548680 0.00005
NM_001134363.3(RBM20):c.441C>T (p.His147=) rs397516619 0.00004
NM_001134363.3(RBM20):c.2089G>A (p.Gly697Arg) rs376463335 0.00001
NM_001134363.3(RBM20):c.125AGC[3] (p.Gln43dup) rs397516593
NM_001134363.3(RBM20):c.2303= (p.Ser768=) rs1417635
NM_001134363.3(RBM20):c.2303C>T (p.Ser768Leu) rs1417635
NM_001134363.3(RBM20):c.785C>G (p.Thr262Ser) rs758718732

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