ClinVar Miner

List of variants in gene RBM20 studied for Primary dilated cardiomyopathy

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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_001134363.3(RBM20):c.3667G>C (p.Glu1223Gln) rs942077 0.74536
NM_001134363.3(RBM20):c.1527+8C>T rs7077757 0.21586
NM_001134363.3(RBM20):c.90G>A (p.Arg30=) rs35141404 0.20903
NM_001134363.3(RBM20):c.1364C>T (p.Ser455Leu) rs189569984 0.00554
NM_001134363.3(RBM20):c.2662G>A (p.Asp888Asn) rs201370621 0.00326
NM_001134363.3(RBM20):c.150A>T (p.Pro50=) rs376936285 0.00244
NM_001134363.3(RBM20):c.680G>T (p.Gly227Val) rs202238753 0.00066
NM_001134363.3(RBM20):c.3115C>T (p.Pro1039Ser) rs727503392 0.00028
NM_001134363.3(RBM20):c.2393C>T (p.Pro798Leu) rs730880184 0.00014
NM_001134363.3(RBM20):c.1027C>T (p.His343Tyr) rs112226602 0.00012
NM_001134363.3(RBM20):c.2147G>A (p.Arg716Gln) rs375798246 0.00008
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.2893G>A (p.Gly965Arg) rs2135121307 0.00002
NM_001134363.3(RBM20):c.3578A>G (p.Tyr1193Cys) rs535839168 0.00002
NM_001134363.3(RBM20):c.1013T>C (p.Met338Thr) rs876657970 0.00001
NM_001134363.3(RBM20):c.1281G>A (p.Trp427Ter) rs869025504 0.00001
NM_001134363.3(RBM20):c.1898C>T (p.Pro633Leu) rs747880281 0.00001
NM_001134363.3(RBM20):c.1907G>A (p.Arg636His) rs267607004 0.00001
NM_001134363.3(RBM20):c.2176C>T (p.Arg726Ter) rs1393804220 0.00001
NM_001134363.3(RBM20):c.2382A>C (p.Arg794Ser) rs999008497 0.00001
NM_001134363.3(RBM20):c.3076G>A (p.Glu1026Lys) rs866975469 0.00001
NM_001134363.3(RBM20):c.686A>G (p.Tyr229Cys) rs1478721868 0.00001
NM_001134363.3(RBM20):c.122T>A (p.Met41Lys) rs1861839889
NM_001134363.3(RBM20):c.150_153del (p.Pro52fs) rs1861841498
NM_001134363.3(RBM20):c.154C>A (p.Pro52Thr) rs2134793204
NM_001134363.3(RBM20):c.1793A>C (p.Gln598Pro) rs2135078982
NM_001134363.3(RBM20):c.1901G>T (p.Arg634Leu) rs267607001
NM_001134363.3(RBM20):c.1906C>A (p.Arg636Ser) rs267607002
NM_001134363.3(RBM20):c.1913C>T (p.Pro638Leu) rs267607003
NM_001134363.3(RBM20):c.2004C>A (p.Asp668Glu) rs749563704
NM_001134363.3(RBM20):c.2205G>A (p.Glu735=) rs1844785808
NM_001134363.3(RBM20):c.2737G>A (p.Glu913Lys) rs397516607
NM_001134363.3(RBM20):c.2746G>A (p.Glu916Lys) rs727504859
NM_001134363.3(RBM20):c.298C>T (p.Leu100Phe) rs1590673852
NM_001134363.3(RBM20):c.3047G>C (p.Gly1016Ala) rs540014314
NM_001134363.3(RBM20):c.3261_3262delinsG (p.Ser1087fs) rs727504763
NM_001134363.3(RBM20):c.3496T>C (p.Cys1166Arg) rs869025506
NM_001134363.3(RBM20):c.3517G>A (p.Glu1173Lys) rs542297252
NM_001134363.3(RBM20):c.580A>G (p.Met194Val) rs2135042187
NM_001134363.3(RBM20):c.611C>T (p.Pro204Leu) rs869025503

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