ClinVar Miner

List of variants in gene RBM20 reported as likely benign by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 57
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HGVS dbSNP gnomAD frequency
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.150A>T (p.Pro50=) rs376936285 0.00244
NM_001134363.3(RBM20):c.1286T>C (p.Leu429Pro) rs61735272 0.00126
NM_001134363.3(RBM20):c.530C>T (p.Thr177Ile) rs183130427 0.00108
NM_001134363.3(RBM20):c.1602C>T (p.Asp534=) rs76048624 0.00102
NM_001134363.3(RBM20):c.280C>T (p.Leu94=) rs182768779 0.00102
NM_001134363.3(RBM20):c.1179C>T (p.Pro393=) rs200588338 0.00078
NM_001134363.3(RBM20):c.448G>A (p.Ala150Thr) rs199868951 0.00055
NM_001134363.3(RBM20):c.3115C>T (p.Pro1039Ser) rs727503392 0.00028
NM_001134363.3(RBM20):c.2201G>A (p.Arg734Gln) rs372923744 0.00026
NM_001134363.3(RBM20):c.773C>T (p.Ser258Leu) rs749285793 0.00020
NM_001134363.3(RBM20):c.1497C>T (p.Pro499=) rs727505095 0.00014
NM_001134363.3(RBM20):c.1633G>A (p.Val545Ile) rs397516596 0.00014
NM_001134363.3(RBM20):c.1027C>T (p.His343Tyr) rs112226602 0.00012
NM_001134363.3(RBM20):c.3177A>G (p.Pro1059=) rs562290651 0.00012
NM_001134363.3(RBM20):c.1275+8G>T rs727505318 0.00011
NM_001134363.3(RBM20):c.3279C>T (p.Asp1093=) rs1003478669 0.00008
NM_001134363.3(RBM20):c.849C>T (p.Tyr283=) rs187423999 0.00008
NM_001134363.3(RBM20):c.2116C>A (p.Pro706Thr) rs373797219 0.00007
NM_001134363.3(RBM20):c.2244T>G (p.Ser748=) rs727503388 0.00007
NM_001134363.3(RBM20):c.348C>T (p.Ala116=) rs569709951 0.00006
NM_001134363.3(RBM20):c.774G>A (p.Ser258=) rs569846404 0.00006
NM_001134363.3(RBM20):c.1093G>A (p.Gly365Arg) rs201047984 0.00005
NM_001134363.3(RBM20):c.1458C>T (p.Tyr486=) rs397516594 0.00004
NM_001134363.3(RBM20):c.363C>T (p.Asn121=) rs727504930 0.00004
NM_001134363.3(RBM20):c.441C>T (p.His147=) rs397516619 0.00004
NM_001134363.3(RBM20):c.-6C>T rs397516589 0.00003
NM_001134363.3(RBM20):c.1056C>G (p.Pro352=) rs397516590 0.00003
NM_001134363.3(RBM20):c.2664T>C (p.Asp888=) rs397516605 0.00003
NM_001134363.3(RBM20):c.1209C>T (p.His403=) rs397516592 0.00002
NM_001134363.3(RBM20):c.3185T>C (p.Phe1062Ser) rs1479765434 0.00002
NM_001134363.3(RBM20):c.3603C>G (p.Gly1201=) rs397516617 0.00002
NM_001134363.3(RBM20):c.409C>T (p.Leu137=) rs876657570 0.00002
NM_001134363.3(RBM20):c.954A>G (p.Gln318=) rs766779254 0.00002
NM_001134363.3(RBM20):c.1080A>T (p.Thr360=) rs397516591 0.00001
NM_001134363.3(RBM20):c.131C>A (p.Pro44Gln) rs563500712 0.00001
NM_001134363.3(RBM20):c.1761C>T (p.Leu587=) rs727504820 0.00001
NM_001134363.3(RBM20):c.1812G>A (p.Lys604=) rs751318089 0.00001
NM_001134363.3(RBM20):c.2070G>A (p.Pro690=) rs890520365 0.00001
NM_001134363.3(RBM20):c.313C>T (p.Leu105=) rs397516611 0.00001
NM_001134363.3(RBM20):c.3183A>G (p.Pro1061=) rs397516612 0.00001
NM_001134363.3(RBM20):c.3366G>A (p.Glu1122=) rs397516613 0.00001
NM_001134363.3(RBM20):c.3372T>C (p.Thr1124=) rs397516614 0.00001
NM_001134363.3(RBM20):c.600T>G (p.Thr200=) rs876657571 0.00001
NM_001134363.3(RBM20):c.1266T>C (p.Phe422=) rs727504737
NM_001134363.3(RBM20):c.1612C>T (p.Leu538=) rs876657569
NM_001134363.3(RBM20):c.1880+4_1880+6dup rs397516597
NM_001134363.3(RBM20):c.2001T>C (p.Ala667=) rs1844780588
NM_001134363.3(RBM20):c.2213C>T (p.Pro738Leu) rs397516601
NM_001134363.3(RBM20):c.2517T>C (p.Asp839=) rs727504467
NM_001134363.3(RBM20):c.2784G>A (p.Glu928=) rs397516609
NM_001134363.3(RBM20):c.2844T>C (p.Cys948=) rs727503389
NM_001134363.3(RBM20):c.3265C>A (p.Pro1089Thr) rs147356378
NM_001134363.3(RBM20):c.3451+10AC[2] rs397516615
NM_001134363.3(RBM20):c.465T>C (p.His155=) rs397516620
NM_001134363.3(RBM20):c.831C>G (p.Ala277=) rs397516624

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