ClinVar Miner

List of variants in gene RBM20 reported as benign by GeneDx

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Gene type:
ClinVar version:
Total variants: 79
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HGVS dbSNP gnomAD frequency
NM_001134363.3(RBM20):c.2551-167C>T rs11195343 0.99964
NM_001134363.3(RBM20):c.3573+194A>G rs7895891 0.97073
NM_001134363.3(RBM20):c.3452-9= rs7070640 0.96872
NM_001134363.3(RBM20):c.1337+32G>A rs6585012 0.75089
NM_001134363.3(RBM20):c.3667G>C (p.Glu1223Gln) rs942077 0.74386
NM_001134363.3(RBM20):c.2550+225G>A rs1417634 0.55176
NM_001134363.3(RBM20):c.1338-36A>C rs7898438 0.54481
NM_001134363.3(RBM20):c.2656-153C>T rs10787283 0.53083
NM_001134363.3(RBM20):c.3451+234A>G rs4918595 0.49122
NM_001134363.3(RBM20):c.2550+168T>C rs1832745 0.44671
NM_001134363.3(RBM20):c.3452-237G>A rs4918601 0.43193
NM_001134363.3(RBM20):c.1276-259A>G rs12254016 0.42322
NM_001134363.3(RBM20):c.1800+336C>A rs7090878 0.42174
NM_001134363.3(RBM20):c.1668+264A>G rs12359298 0.39857
NM_001134363.3(RBM20):c.1669-256C>T rs7086491 0.38805
NM_001134363.3(RBM20):c.1880+23T>C rs11195338 0.31080
NM_001134363.3(RBM20):c.1429+154C>T rs7073950 0.21599
NM_001134363.3(RBM20):c.1527+8C>T rs7077757 0.21586
NM_001134363.3(RBM20):c.1275+34T>C rs61862866 0.21567
NM_001134363.3(RBM20):c.1275+36G>A rs61862867 0.21544
NM_001134363.3(RBM20):c.90G>A (p.Arg30=) rs35141404 0.20903
NM_001134363.3(RBM20):c.1669-131G>A rs7086886 0.18979
NM_001134363.3(RBM20):c.1668+108C>T rs6585014 0.15973
NM_001134363.3(RBM20):c.1337+160G>A rs1570426 0.10850
NC_000010.11:g.110644335C>T rs12783859 0.05599
NM_001134363.3(RBM20):c.1881-214del rs140844165 0.04279
NM_001134363.3(RBM20):c.3316+243C>G rs61862920 0.03948
NM_001134363.3(RBM20):c.1528-205A>G rs74788397 0.03433
NM_001134363.3(RBM20):c.3452-41G>C rs74407586 0.03343
NM_001134363.3(RBM20):c.1338-237A>G rs55873340 0.03185
NM_001134363.3(RBM20):c.1338-234G>A rs7898501 0.02470
NM_001134363.3(RBM20):c.517C>A (p.Pro173Thr) rs7908490 0.02441
NM_001134363.3(RBM20):c.1801-11G>C rs12572941 0.02426
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.192-31G>A rs114622030 0.01739
NM_001134363.3(RBM20):c.3144C>T (p.Ser1048=) rs75858380 0.01586
NM_001134363.3(RBM20):c.191+106C>T rs114033006 0.01522
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.2655+15A>G rs187915202 0.00436
NM_001134363.3(RBM20):c.1275+13A>G rs373230569 0.00392
NM_001134363.3(RBM20):c.3452-10C>T rs60618533 0.00369
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.3265C>G (p.Pro1089Ala) rs147356378 0.00252
NM_001134363.3(RBM20):c.150A>T (p.Pro50=) rs376936285 0.00244
NM_001134363.3(RBM20):c.1986G>A (p.Pro662=) rs537723089 0.00233
NM_001134363.3(RBM20):c.1992C>T (p.Pro664=) rs41292592 0.00112
NM_001134363.3(RBM20):c.3170G>A (p.Arg1057Gln) rs188054898 0.00107
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.680G>T (p.Gly227Val) rs202238753 0.00066
NM_001134363.3(RBM20):c.448G>A (p.Ala150Thr) rs199868951 0.00055
NM_001134363.3(RBM20):c.1378T>C (p.Leu460=) rs374014662 0.00028
NM_001134363.3(RBM20):c.3513G>A (p.Thr1171=) rs184312864 0.00015
NM_001134363.3(RBM20):c.2862C>T (p.Asp954=) rs751775695 0.00009
NM_001134363.3(RBM20):c.3504G>A (p.Leu1168=) rs377742289 0.00009
NM_001134363.3(RBM20):c.2244T>G (p.Ser748=) rs727503388 0.00007
NM_001134363.3(RBM20):c.1338-11G>A rs372064165 0.00004
NM_001134363.3(RBM20):c.2232C>T (p.Asn744=) rs975320203 0.00003
NM_001134363.3(RBM20):c.1617G>T (p.Gly539=) rs761674598 0.00002
NM_001134363.3(RBM20):c.2904C>T (p.Ala968=) rs587781138 0.00001
NM_001134363.3(RBM20):c.1527+36_1527+41del rs200035751
NM_001134363.3(RBM20):c.1528-211AT[8] rs368264922
NM_001134363.3(RBM20):c.192-164del rs34363441
NM_001134363.3(RBM20):c.192-165_192-164del rs34363441
NM_001134363.3(RBM20):c.2303= (p.Ser768=) rs1417635
NM_001134363.3(RBM20):c.2303C>T (p.Ser768Leu) rs1417635
NM_001134363.3(RBM20):c.255A>C (p.Ser85=) rs587781136
NM_001134363.3(RBM20):c.2763C>T (p.Ile921=) rs587781137
NM_001134363.3(RBM20):c.3317-20C>T rs202039414
NM_001134363.3(RBM20):c.3317-28_3317-22del rs201149204
NM_001134363.3(RBM20):c.3317-30_3317-22del rs201149204
NM_001134363.3(RBM20):c.3317-34_3317-22del rs201149204
NM_001134363.3(RBM20):c.3317-35_3317-22del rs201149204
NM_001134363.3(RBM20):c.3451+277del rs72199900
NM_001134363.3(RBM20):c.3451+293dup rs1338701346

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