ClinVar Miner

List of variants in gene CBL reported by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 191
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HGVS dbSNP gnomAD frequency
NM_005188.4(CBL):c.2592C>T (p.Leu864=) rs1893177 0.03391
NM_005188.4(CBL):c.869+4A>G rs77284821 0.02038
NM_005188.4(CBL):c.513T>C (p.Ser171=) rs2227987 0.00741
NM_005188.4(CBL):c.1485G>A (p.Pro495=) rs2229072 0.00547
NM_005188.4(CBL):c.2710G>A (p.Val904Ile) rs17122769 0.00454
NM_005188.4(CBL):c.2345C>T (p.Pro782Leu) rs2229073 0.00281
NM_005188.4(CBL):c.1359A>C (p.Pro453=) rs34732429 0.00188
NM_005188.4(CBL):c.2484G>A (p.Pro828=) rs149533467 0.00166
NM_005188.4(CBL):c.2190G>C (p.Thr730=) rs143840974 0.00137
NM_005188.4(CBL):c.1858C>T (p.Leu620Phe) rs2227988 0.00121
NM_005188.4(CBL):c.1641T>C (p.Pro547=) rs61755280 0.00074
NM_005188.4(CBL):c.1942A>C (p.Ser648Arg) rs143264567 0.00035
NM_005188.4(CBL):c.1287C>T (p.Ile429=) rs148368481 0.00031
NM_005188.4(CBL):c.2588A>G (p.Asn863Ser) rs146250423 0.00019
NM_005188.4(CBL):c.1871T>C (p.Leu624Ser) rs150550899 0.00014
NM_005188.4(CBL):c.2513G>T (p.Gly838Val) rs144191570 0.00014
NM_005188.4(CBL):c.2359C>T (p.Arg787Cys) rs143132980 0.00011
NM_005188.4(CBL):c.2312A>T (p.Asp771Val) rs199788586 0.00010
NM_005188.4(CBL):c.1566T>C (p.Ala522=) rs371065029 0.00009
NM_005188.4(CBL):c.2223G>A (p.Ala741=) rs202229538 0.00009
NM_005188.4(CBL):c.2268C>T (p.Ala756=) rs142564074 0.00009
NM_005188.4(CBL):c.873T>C (p.Tyr291=) rs756526812 0.00009
NM_005188.4(CBL):c.1356C>T (p.Ser452=) rs150443504 0.00008
NM_005188.4(CBL):c.2349C>T (p.Ala783=) rs552509693 0.00008
NM_005188.4(CBL):c.1443G>T (p.Pro481=) rs768111719 0.00007
NM_005188.4(CBL):c.2126G>A (p.Arg709Gln) rs770667508 0.00007
NM_005188.4(CBL):c.2262T>G (p.Asn754Lys) rs148139669 0.00006
NM_005188.4(CBL):c.2721G>A (p.Ter907=) rs937827423 0.00006
NM_005188.4(CBL):c.1647C>A (p.Asp549Glu) rs369030902 0.00005
NM_005188.4(CBL):c.1140A>G (p.Leu380=) rs370331997 0.00004
NM_005188.4(CBL):c.1477C>T (p.Leu493Phe) rs730880434 0.00004
NM_005188.4(CBL):c.1911C>T (p.Leu637=) rs552760421 0.00004
NM_005188.4(CBL):c.195+3G>A rs762062705 0.00004
NM_005188.4(CBL):c.2083G>A (p.Glu695Lys) rs143975631 0.00004
NM_005188.4(CBL):c.2614C>A (p.Gln872Lys) rs746795014 0.00004
NM_005188.4(CBL):c.711G>A (p.Ser237=) rs146662327 0.00004
NM_005188.4(CBL):c.819G>A (p.Thr273=) rs750907780 0.00004
NM_005188.4(CBL):c.837T>C (p.Ala279=) rs140250592 0.00004
NM_005188.4(CBL):c.1495C>A (p.Arg499=) rs778927765 0.00003
NM_005188.4(CBL):c.1512G>A (p.Pro504=) rs758285751 0.00003
NM_005188.4(CBL):c.1703C>T (p.Thr568Ile) rs762016318 0.00003
NM_005188.4(CBL):c.1776C>T (p.Pro592=) rs886047769 0.00003
NM_005188.4(CBL):c.1920G>A (p.Thr640=) rs202158626 0.00003
NM_005188.4(CBL):c.2666A>G (p.Lys889Arg) rs1369884955 0.00003
NM_005188.4(CBL):c.2691C>T (p.Ser897=) rs762560254 0.00003
NM_005188.4(CBL):c.516A>G (p.Gly172=) rs765968487 0.00003
NM_005188.4(CBL):c.1031A>G (p.Asn344Ser) rs370489946 0.00002
NM_005188.4(CBL):c.1394A>T (p.Asp465Val) rs770644035 0.00002
NM_005188.4(CBL):c.1468C>G (p.Gln490Glu) rs1368426444 0.00002
NM_005188.4(CBL):c.1783A>G (p.Ile595Val) rs775675805 0.00002
NM_005188.4(CBL):c.1830A>G (p.Thr610=) rs756758516 0.00002
NM_005188.4(CBL):c.2199A>G (p.Ala733=) rs1272395484 0.00002
NM_005188.4(CBL):c.2235C>T (p.Thr745=) rs763880494 0.00002
NM_005188.4(CBL):c.2485C>T (p.Arg829Trp) rs761245258 0.00002
NM_005188.4(CBL):c.2535T>C (p.Gly845=) rs778902867 0.00002
NM_005188.4(CBL):c.286C>T (p.Arg96Cys) rs147438359 0.00002
NM_005188.4(CBL):c.560C>T (p.Ala187Val) rs587778162 0.00002
NM_005188.4(CBL):c.825C>T (p.Asp275=) rs751768529 0.00002
NM_005188.4(CBL):c.1182G>A (p.Glu394=) rs760728674 0.00001
NM_005188.4(CBL):c.1191A>G (p.Gly397=) rs761630653 0.00001
NM_005188.4(CBL):c.1221C>T (p.Ser407=) rs751978701 0.00001
NM_005188.4(CBL):c.1298C>T (p.Pro433Leu) rs140627020 0.00001
NM_005188.4(CBL):c.1695G>A (p.Leu565=) rs776804746 0.00001
NM_005188.4(CBL):c.1788C>G (p.Pro596=) rs1060503995 0.00001
NM_005188.4(CBL):c.1849C>T (p.Arg617Trp) rs538013681 0.00001
NM_005188.4(CBL):c.1959A>G (p.Pro653=) rs752080219 0.00001
NM_005188.4(CBL):c.2004A>T (p.Ser668=) rs994833014 0.00001
NM_005188.4(CBL):c.2012A>G (p.Asn671Ser) rs760168148 0.00001
NM_005188.4(CBL):c.203G>A (p.Arg68Gln) rs901321242 0.00001
NM_005188.4(CBL):c.2053A>G (p.Lys685Glu) rs1555027603 0.00001
NM_005188.4(CBL):c.2062C>T (p.Pro688Ser) rs730880428 0.00001
NM_005188.4(CBL):c.2086G>A (p.Glu696Lys) rs539217274 0.00001
NM_005188.4(CBL):c.2346G>A (p.Pro782=) rs762655460 0.00001
NM_005188.4(CBL):c.2432C>T (p.Thr811Ile) rs749068285 0.00001
NM_005188.4(CBL):c.2460C>T (p.Pro820=) rs774166893 0.00001
NM_005188.4(CBL):c.2556C>T (p.Thr852=) rs199537344 0.00001
NM_005188.4(CBL):c.2652C>T (p.Asn884=) rs879302360 0.00001
NM_005188.4(CBL):c.2692A>G (p.Ile898Val) rs397507499 0.00001
NM_005188.4(CBL):c.469A>G (p.Ile157Val) rs730880430 0.00001
NM_005188.4(CBL):c.624T>C (p.Ala208=) rs757950499 0.00001
NM_005188.4(CBL):c.660G>A (p.Glu220=) rs949933368 0.00001
NM_005188.4(CBL):c.714T>G (p.Val238=) rs371523922 0.00001
NM_005188.4(CBL):c.898C>T (p.Leu300=) rs771326694 0.00001
NM_005188.4(CBL):c.1023T>C (p.Asp341=) rs1368487308
NM_005188.4(CBL):c.1033C>G (p.Gln345Glu) rs202095002
NM_005188.4(CBL):c.1096-1G>C rs397517076
NM_005188.4(CBL):c.1099C>A (p.Gln367Lys) rs727504504
NM_005188.4(CBL):c.1100A>C (p.Gln367Pro) rs267606704
NM_005188.4(CBL):c.1109_1111dup (p.Leu370_Tyr371insLeu)
NM_005188.4(CBL):c.1113C>T (p.Tyr371=)
NM_005188.4(CBL):c.1129A>G (p.Thr377Ala) rs727502914
NM_005188.4(CBL):c.1132T>C (p.Phe378Leu)
NM_005188.4(CBL):c.1140A>C (p.Leu380=)
NM_005188.4(CBL):c.1166A>C (p.Lys389Thr) rs1949904868
NM_005188.4(CBL):c.1209C>T (p.Ser403=) rs978200568
NM_005188.4(CBL):c.1210T>C (p.Cys404Arg) rs1949905314
NM_005188.4(CBL):c.1220C>A (p.Ser407Tyr) rs2135303902
NM_005188.4(CBL):c.1248T>C (p.Cys416=)
NM_005188.4(CBL):c.1260A>G (p.Arg420=)
NM_005188.4(CBL):c.1296T>C (p.Asp432=) rs1188095865
NM_005188.4(CBL):c.1323C>T (p.Ser441=) rs1044787155
NM_005188.4(CBL):c.1349C>T (p.Ala450Val)
NM_005188.4(CBL):c.1358C>T (p.Pro453Leu)
NM_005188.4(CBL):c.1365T>C (p.Tyr455=) rs749044865
NM_005188.4(CBL):c.1371T>C (p.Asp457=)
NM_005188.4(CBL):c.1393G>T (p.Asp465Tyr)
NM_005188.4(CBL):c.1400T>C (p.Leu467Pro) rs1385198964
NM_005188.4(CBL):c.1401C>T (p.Leu467=)
NM_005188.4(CBL):c.1434G>T (p.Val478=) rs374936250
NM_005188.4(CBL):c.1439G>A (p.Arg480Gln) rs1949969239
NM_005188.4(CBL):c.1449T>G (p.Ser483=)
NM_005188.4(CBL):c.1452A>G (p.Pro484=)
NM_005188.4(CBL):c.1464C>T (p.Ala488=) rs766521315
NM_005188.4(CBL):c.1498C>T (p.Leu500Phe) rs1949969949
NM_005188.4(CBL):c.1512G>T (p.Pro504=) rs758285751
NM_005188.4(CBL):c.1524T>C (p.Cys508=)
NM_005188.4(CBL):c.1530C>G (p.Pro510=)
NM_005188.4(CBL):c.1531T>A (p.Ser511Thr)
NM_005188.4(CBL):c.1567G>T (p.Ala523Ser)
NM_005188.4(CBL):c.1601C>T (p.Pro534Leu)
NM_005188.4(CBL):c.1614A>G (p.Thr538=) rs1408642074
NM_005188.4(CBL):c.1616T>C (p.Leu539Pro)
NM_005188.4(CBL):c.1633C>G (p.Pro545Ala)
NM_005188.4(CBL):c.1689C>T (p.Arg563=)
NM_005188.4(CBL):c.1693T>C (p.Leu565=)
NM_005188.4(CBL):c.1697C>G (p.Pro566Arg) rs1428398685
NM_005188.4(CBL):c.1758T>C (p.Leu586=)
NM_005188.4(CBL):c.1773G>A (p.Leu591=)
NM_005188.4(CBL):c.1778G>A (p.Arg593Gln) rs730880435
NM_005188.4(CBL):c.1789A>C (p.Lys597Gln)
NM_005188.4(CBL):c.1800A>G (p.Val600=)
NM_005188.4(CBL):c.1834A>G (p.Arg612Gly)
NM_005188.4(CBL):c.1847A>C (p.Asn616Thr) rs376094293
NM_005188.4(CBL):c.1847A>G (p.Asn616Ser)
NM_005188.4(CBL):c.1875C>T (p.Pro625=)
NM_005188.4(CBL):c.1878A>G (p.Ser626=)
NM_005188.4(CBL):c.1896A>G (p.Pro632=)
NM_005188.4(CBL):c.1928T>C (p.Leu643Pro)
NM_005188.4(CBL):c.1933A>G (p.Thr645Ala)
NM_005188.4(CBL):c.2048T>C (p.Val683Ala)
NM_005188.4(CBL):c.2052A>C (p.Pro684=) rs886047771
NM_005188.4(CBL):c.2058G>T (p.Leu686=)
NM_005188.4(CBL):c.2070G>T (p.Glu690Asp)
NM_005188.4(CBL):c.2072A>C (p.Gln691Pro)
NM_005188.4(CBL):c.2124A>G (p.Leu708=)
NM_005188.4(CBL):c.215A>T (p.Asn72Ile)
NM_005188.4(CBL):c.2164T>A (p.Cys722Ser)
NM_005188.4(CBL):c.2180A>G (p.Asp727Gly)
NM_005188.4(CBL):c.2190G>A (p.Thr730=) rs143840974
NM_005188.4(CBL):c.2209A>G (p.Ile737Val)
NM_005188.4(CBL):c.2217C>A (p.Ser739=)
NM_005188.4(CBL):c.2226A>G (p.Pro742=)
NM_005188.4(CBL):c.2229T>C (p.Ser743=)
NM_005188.4(CBL):c.2235C>G (p.Thr745=)
NM_005188.4(CBL):c.2319G>A (p.Gly773=)
NM_005188.4(CBL):c.2336C>T (p.Pro779Leu)
NM_005188.4(CBL):c.2337A>G (p.Pro779=) rs1042340033
NM_005188.4(CBL):c.2370C>T (p.Leu790=)
NM_005188.4(CBL):c.2378T>C (p.Ile793Thr)
NM_005188.4(CBL):c.2379C>T (p.Ile793=)
NM_005188.4(CBL):c.2394C>T (p.Ser798=) rs773256658
NM_005188.4(CBL):c.2417A>T (p.Asp806Val)
NM_005188.4(CBL):c.2516G>C (p.Ser839Thr) rs199771745
NM_005188.4(CBL):c.2558C>T (p.Ala853Val)
NM_005188.4(CBL):c.2612A>T (p.Tyr871Phe)
NM_005188.4(CBL):c.261G>A (p.Leu87=)
NM_005188.4(CBL):c.2638A>C (p.Ile880Leu)
NM_005188.4(CBL):c.2644C>A (p.Gln882Lys)
NM_005188.4(CBL):c.266C>G (p.Pro89Arg)
NM_005188.4(CBL):c.2675_2676del (p.Leu892fs) rs1950088243
NM_005188.4(CBL):c.2706C>G (p.Ala902=)
NM_005188.4(CBL):c.309G>A (p.Glu103=)
NM_005188.4(CBL):c.338A>C (p.Glu113Ala)
NM_005188.4(CBL):c.385A>G (p.Thr129Ala)
NM_005188.4(CBL):c.396C>A (p.Leu132=)
NM_005188.4(CBL):c.401A>G (p.Lys134Arg) rs2135266374
NM_005188.4(CBL):c.408A>G (p.Gly136=)
NM_005188.4(CBL):c.440C>T (p.Pro147Leu)
NM_005188.4(CBL):c.493C>G (p.Leu165Val) rs1555229540
NM_005188.4(CBL):c.516A>C (p.Gly172=)
NM_005188.4(CBL):c.540G>A (p.Arg180=)
NM_005188.4(CBL):c.546T>G (p.Thr182=)
NM_005188.4(CBL):c.656T>C (p.Leu219Pro) rs895664191
NM_005188.4(CBL):c.664A>G (p.Met222Val)
NM_005188.4(CBL):c.678C>T (p.Ser226=)
NM_005188.4(CBL):c.682A>G (p.Ile228Val)
NM_005188.4(CBL):c.712G>A (p.Val238Ile)
NM_005188.4(CBL):c.787G>A (p.Val263Ile)
NM_005188.4(CBL):c.843C>T (p.Leu281=)
NM_005188.4(CBL):c.852C>T (p.Phe284=) rs745855639
NM_005188.4(CBL):c.945C>G (p.Leu315=)

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