ClinVar Miner

List of variants in gene IRF2BPL reported as uncertain significance

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Gene type:
ClinVar version:
Total variants: 223
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HGVS dbSNP gnomAD frequency
NM_024496.4(IRF2BPL):c.2299G>C (p.Val767Leu) rs142468978 0.00011
NM_024496.4(IRF2BPL):c.800G>T (p.Ser267Ile) rs367674240 0.00011
NM_024496.4(IRF2BPL):c.650A>G (p.Asn217Ser) rs765748046 0.00008
NM_024496.4(IRF2BPL):c.1637C>T (p.Ala546Val) rs991081216 0.00007
NM_024496.4(IRF2BPL):c.887C>T (p.Pro296Leu) rs751627340 0.00007
NM_024496.4(IRF2BPL):c.926C>T (p.Ser309Leu) rs1015600564 0.00006
NM_024496.4(IRF2BPL):c.1946C>T (p.Thr649Ile) rs201369439 0.00004
NM_024496.4(IRF2BPL):c.1286A>G (p.Asn429Ser) rs758091899 0.00003
NM_024496.4(IRF2BPL):c.1607G>T (p.Gly536Val) rs745856019 0.00003
NM_024496.4(IRF2BPL):c.823C>T (p.Pro275Ser) rs780946232 0.00003
NM_024496.4(IRF2BPL):c.890C>T (p.Ala297Val) rs376126541 0.00003
NM_024496.4(IRF2BPL):c.1834C>T (p.Pro612Ser) rs771393712 0.00002
NM_024496.4(IRF2BPL):c.1003G>A (p.Val335Met) rs1378876593 0.00001
NM_024496.4(IRF2BPL):c.1058C>T (p.Ala353Val) rs779313729 0.00001
NM_024496.4(IRF2BPL):c.1064C>T (p.Ala355Val) rs1236888532 0.00001
NM_024496.4(IRF2BPL):c.1510T>A (p.Cys504Ser) rs1479037901 0.00001
NM_024496.4(IRF2BPL):c.1553C>T (p.Pro518Leu) rs1038195917 0.00001
NM_024496.4(IRF2BPL):c.1561C>T (p.Pro521Ser) rs764304719 0.00001
NM_024496.4(IRF2BPL):c.1618A>G (p.Ser540Gly) rs1461784175 0.00001
NM_024496.4(IRF2BPL):c.1677G>C (p.Lys559Asn) rs1472006916 0.00001
NM_024496.4(IRF2BPL):c.1739C>T (p.Thr580Ile) rs1243852191 0.00001
NM_024496.4(IRF2BPL):c.1807C>G (p.Leu603Val) rs761261607 0.00001
NM_024496.4(IRF2BPL):c.1877C>T (p.Ala626Val) rs1885099769 0.00001
NM_024496.4(IRF2BPL):c.1923G>T (p.Lys641Asn) rs1045489697 0.00001
NM_024496.4(IRF2BPL):c.1930A>G (p.Ser644Gly) rs1566785567 0.00001
NM_024496.4(IRF2BPL):c.1991C>T (p.Ala664Val) rs1465253843 0.00001
NM_024496.4(IRF2BPL):c.2116C>T (p.Pro706Ser) rs781495809 0.00001
NM_024496.4(IRF2BPL):c.2288A>G (p.Lys763Arg) rs2503074159 0.00001
NM_024496.4(IRF2BPL):c.469G>A (p.Ala157Thr) rs756179471 0.00001
NM_024496.4(IRF2BPL):c.476C>T (p.Ala159Val) rs767791510 0.00001
NM_024496.4(IRF2BPL):c.631C>G (p.Leu211Val) rs1480750400 0.00001
NM_024496.4(IRF2BPL):c.658T>G (p.Ser220Ala) rs1885156787 0.00001
NM_024496.4(IRF2BPL):c.683G>C (p.Arg228Pro) rs1398386187 0.00001
NM_024496.4(IRF2BPL):c.704T>C (p.Leu235Pro) rs927676640 0.00001
NM_024496.4(IRF2BPL):c.923C>T (p.Thr308Met) rs1287337704 0.00001
NM_024496.4(IRF2BPL):c.941C>T (p.Ser314Phe) rs1187454418 0.00001
GRCh37/hg19 14q24.3(chr14:77453066-77516821)x1
NM_024496.4(IRF2BPL):c.1010G>A (p.Ser337Asn) rs1214159684
NM_024496.4(IRF2BPL):c.1017C>G (p.Asp339Glu) rs928929617
NM_024496.4(IRF2BPL):c.1037A>T (p.Glu346Val) rs2503076648
NM_024496.4(IRF2BPL):c.1050C>A (p.Asn350Lys) rs778182341
NM_024496.4(IRF2BPL):c.1066G>C (p.Glu356Gln)
NM_024496.4(IRF2BPL):c.1074_1075del (p.Ser358fs) rs2140378000
NM_024496.4(IRF2BPL):c.1090C>A (p.Arg364Ser)
NM_024496.4(IRF2BPL):c.1138_1146dup (p.Leu382_Ala383insLeuThrLeu) rs2503076435
NM_024496.4(IRF2BPL):c.1155C>G (p.Cys385Trp)
NM_024496.4(IRF2BPL):c.1159C>T (p.Pro387Ser)
NM_024496.4(IRF2BPL):c.1177AAG[1] (p.Lys394del) rs2503076386
NM_024496.4(IRF2BPL):c.1180A>G (p.Lys394Glu) rs2503076388
NM_024496.4(IRF2BPL):c.1181A>G (p.Lys394Arg) rs2140377919
NM_024496.4(IRF2BPL):c.1183_1186dup (p.His396fs) rs2503076376
NM_024496.4(IRF2BPL):c.1189T>C (p.Ser397Pro) rs1885132751
NM_024496.4(IRF2BPL):c.1190C>G (p.Ser397Trp)
NM_024496.4(IRF2BPL):c.1198G>C (p.Gly400Arg) rs1885132124
NM_024496.4(IRF2BPL):c.1211C>T (p.Ala404Val) rs2140377890
NM_024496.4(IRF2BPL):c.1228A>G (p.Lys410Glu)
NM_024496.4(IRF2BPL):c.1235_1237inv (p.Gly412_Met413delinsValLeu)
NM_024496.4(IRF2BPL):c.1260C>A (p.Phe420Leu)
NM_024496.4(IRF2BPL):c.1262T>G (p.Ile421Ser) rs2503076018
NM_024496.4(IRF2BPL):c.1264G>A (p.Glu422Lys)
NM_024496.4(IRF2BPL):c.1267T>G (p.Tyr423Asp)
NM_024496.4(IRF2BPL):c.1268A>C (p.Tyr423Ser)
NM_024496.4(IRF2BPL):c.1271C>T (p.Pro424Leu) rs2140377831
NM_024496.4(IRF2BPL):c.1276G>A (p.Gly426Ser) rs2140377819
NM_024496.4(IRF2BPL):c.1280C>T (p.Ser427Leu) rs2140377814
NM_024496.4(IRF2BPL):c.1283G>A (p.Gly428Asp) rs1885128412
NM_024496.4(IRF2BPL):c.1288G>T (p.Val430Leu)
NM_024496.4(IRF2BPL):c.1301C>T (p.Ala434Val) rs1049541752
NM_024496.4(IRF2BPL):c.1303T>G (p.Ser435Ala) rs2140377793
NM_024496.4(IRF2BPL):c.1309G>A (p.Val437Met)
NM_024496.4(IRF2BPL):c.1323G>A (p.Met441Ile)
NM_024496.4(IRF2BPL):c.1324T>A (p.Tyr442Asn) rs2503075880
NM_024496.4(IRF2BPL):c.1332C>G (p.Asp444Glu)
NM_024496.4(IRF2BPL):c.1333T>C (p.Cys445Arg)
NM_024496.4(IRF2BPL):c.1336A>G (p.Met446Val) rs2503075863
NM_024496.4(IRF2BPL):c.1364C>T (p.Ser455Leu) rs2503075798
NM_024496.4(IRF2BPL):c.1366G>A (p.Gly456Ser)
NM_024496.4(IRF2BPL):c.1381G>A (p.Glu461Lys) rs2503075770
NM_024496.4(IRF2BPL):c.1382A>C (p.Glu461Ala)
NM_024496.4(IRF2BPL):c.1393A>C (p.Lys465Gln) rs924464224
NM_024496.4(IRF2BPL):c.1396C>T (p.His466Tyr) rs749273166
NM_024496.4(IRF2BPL):c.1415G>C (p.Arg472Pro)
NM_024496.4(IRF2BPL):c.1424G>A (p.Gly475Glu) rs2503075709
NM_024496.4(IRF2BPL):c.1448G>T (p.Arg483Leu)
NM_024496.4(IRF2BPL):c.1455C>A (p.Phe485Leu) rs1180009332
NM_024496.4(IRF2BPL):c.1486C>T (p.Pro496Ser) rs867708241
NM_024496.4(IRF2BPL):c.1498C>G (p.Leu500Val) rs1447484051
NM_024496.4(IRF2BPL):c.1501G>A (p.Asp501Asn) rs902619113
NM_024496.4(IRF2BPL):c.1508G>A (p.Ser503Asn) rs761312458
NM_024496.4(IRF2BPL):c.1518G>C (p.Met506Ile) rs1008262991
NM_024496.4(IRF2BPL):c.1523C>T (p.Pro508Leu) rs1365763431
NM_024496.4(IRF2BPL):c.1552C>T (p.Pro518Ser)
NM_024496.4(IRF2BPL):c.1595C>T (p.Pro532Leu)
NM_024496.4(IRF2BPL):c.1610C>G (p.Ala537Gly)
NM_024496.4(IRF2BPL):c.1625G>T (p.Arg542Leu) rs2503075316
NM_024496.4(IRF2BPL):c.1631_1632del (p.Arg544fs) rs2140377473
NM_024496.4(IRF2BPL):c.1648C>T (p.Pro550Ser) rs1885108798
NM_024496.4(IRF2BPL):c.1651C>T (p.Pro551Ser)
NM_024496.4(IRF2BPL):c.1663G>A (p.Glu555Lys)
NM_024496.4(IRF2BPL):c.1673T>C (p.Leu558Pro) rs2503075244
NM_024496.4(IRF2BPL):c.1687G>C (p.Glu563Gln) rs867358854
NM_024496.4(IRF2BPL):c.1695G>C (p.Gln565His) rs2503075206
NM_024496.4(IRF2BPL):c.1704G>C (p.Gln568His) rs1338635149
NM_024496.4(IRF2BPL):c.1707G>C (p.Trp569Cys) rs2503075170
NM_024496.4(IRF2BPL):c.1724A>G (p.Glu575Gly)
NM_024496.4(IRF2BPL):c.1742T>G (p.Met581Arg)
NM_024496.4(IRF2BPL):c.1743G>A (p.Met581Ile) rs2503075106
NM_024496.4(IRF2BPL):c.1748C>G (p.Ala583Gly)
NM_024496.4(IRF2BPL):c.1765_1779del (p.Pro589_Ala593del) rs1885103810
NM_024496.4(IRF2BPL):c.1769G>T (p.Gly590Val) rs746234981
NM_024496.4(IRF2BPL):c.1783G>A (p.Gly595Ser) rs2140377333
NM_024496.4(IRF2BPL):c.1786C>T (p.Pro596Ser)
NM_024496.4(IRF2BPL):c.1799C>T (p.Pro600Leu) rs1885102913
NM_024496.4(IRF2BPL):c.1801C>T (p.Pro601Ser) rs1028168166
NM_024496.4(IRF2BPL):c.1829C>G (p.Thr610Ser) rs1328589944
NM_024496.4(IRF2BPL):c.1849C>T (p.Pro617Ser)
NM_024496.4(IRF2BPL):c.1850C>G (p.Pro617Arg) rs2503074880
NM_024496.4(IRF2BPL):c.1852C>A (p.Gln618Lys)
NM_024496.4(IRF2BPL):c.1858G>A (p.Gly620Ser)
NM_024496.4(IRF2BPL):c.1862C>T (p.Pro621Leu) rs2503074857
NM_024496.4(IRF2BPL):c.1874C>T (p.Ala625Val) rs1161444227
NM_024496.4(IRF2BPL):c.1907C>T (p.Thr636Ile) rs2503074756
NM_024496.4(IRF2BPL):c.1912C>T (p.His638Tyr)
NM_024496.4(IRF2BPL):c.1936G>A (p.Val646Met)
NM_024496.4(IRF2BPL):c.1939C>T (p.His647Tyr)
NM_024496.4(IRF2BPL):c.1940A>G (p.His647Arg) rs1885097958
NM_024496.4(IRF2BPL):c.1949C>G (p.Thr650Ser) rs1016031595
NM_024496.4(IRF2BPL):c.1957G>C (p.Ala653Pro) rs2503074655
NM_024496.4(IRF2BPL):c.1968C>G (p.Asn656Lys)
NM_024496.4(IRF2BPL):c.1996G>A (p.Val666Met) rs757908364
NM_024496.4(IRF2BPL):c.2003G>A (p.Gly668Glu) rs2503074584
NM_024496.4(IRF2BPL):c.2018C>G (p.Ala673Gly) rs1277128581
NM_024496.4(IRF2BPL):c.2028C>G (p.Asn676Lys)
NM_024496.4(IRF2BPL):c.2036T>A (p.Leu679Gln)
NM_024496.4(IRF2BPL):c.2036T>C (p.Leu679Pro)
NM_024496.4(IRF2BPL):c.2053C>T (p.Pro685Ser)
NM_024496.4(IRF2BPL):c.2075C>G (p.Pro692Arg)
NM_024496.4(IRF2BPL):c.2081T>G (p.Met694Arg)
NM_024496.4(IRF2BPL):c.2096C>A (p.Pro699His) rs1395437297
NM_024496.4(IRF2BPL):c.2112T>G (p.Asp704Glu) rs1885091630
NM_024496.4(IRF2BPL):c.2117C>T (p.Pro706Leu) rs1885091306
NM_024496.4(IRF2BPL):c.2121G>C (p.Met707Ile)
NM_024496.4(IRF2BPL):c.2123C>G (p.Ala708Gly)
NM_024496.4(IRF2BPL):c.2141G>C (p.Cys714Ser)
NM_024496.4(IRF2BPL):c.2156A>G (p.His719Arg)
NM_024496.4(IRF2BPL):c.2197G>T (p.Val733Phe)
NM_024496.4(IRF2BPL):c.2200C>T (p.Pro734Ser) rs1885088030
NM_024496.4(IRF2BPL):c.2204G>T (p.Ser735Ile) rs537373114
NM_024496.4(IRF2BPL):c.2206C>A (p.His736Asn)
NM_024496.4(IRF2BPL):c.2222C>G (p.Pro741Arg)
NM_024496.4(IRF2BPL):c.2250G>C (p.Gln750His)
NM_024496.4(IRF2BPL):c.2254G>T (p.Ala752Ser)
NM_024496.4(IRF2BPL):c.2262_2266del (p.Glu755fs)
NM_024496.4(IRF2BPL):c.2309A>G (p.Asn770Ser) rs1885082743
NM_024496.4(IRF2BPL):c.2344A>C (p.Thr782Pro)
NM_024496.4(IRF2BPL):c.2345C>T (p.Thr782Ile) rs2140376807
NM_024496.4(IRF2BPL):c.2354C>T (p.Ala785Val) rs1432066824
NM_024496.4(IRF2BPL):c.2377_2379del (p.Glu793del) rs1268157935
NM_024496.4(IRF2BPL):c.2383G>A (p.Asp795Asn)
NM_024496.4(IRF2BPL):c.2387C>T (p.Pro796Leu) rs1885081272
NM_024496.4(IRF2BPL):c.340C>G (p.Gln114Glu) rs1428829756
NM_024496.4(IRF2BPL):c.345GCA[11] (p.Gln127_Leu128insGln) rs200317113
NM_024496.4(IRF2BPL):c.345_377del (p.Gln117_Gln127del) rs747510848
NM_024496.4(IRF2BPL):c.346C>G (p.Gln116Glu) rs2503078768
NM_024496.4(IRF2BPL):c.372G>C (p.Gln124His) rs553703325
NM_024496.4(IRF2BPL):c.375ACA[1] (p.Gln127del) rs749893268
NM_024496.4(IRF2BPL):c.375_380del (p.Gln126_Gln127del)
NM_024496.4(IRF2BPL):c.387C>G (p.Asn129Lys) rs767883776
NM_024496.4(IRF2BPL):c.391G>A (p.Val131Ile) rs1269651392
NM_024496.4(IRF2BPL):c.425C>T (p.Ala142Val)
NM_024496.4(IRF2BPL):c.434G>A (p.Gly145Asp) rs769398917
NM_024496.4(IRF2BPL):c.449G>T (p.Gly150Val)
NM_024496.4(IRF2BPL):c.456C>G (p.Ser152Arg) rs2139976146
NM_024496.4(IRF2BPL):c.459_470dup (p.Ala164_Val165insAlaAlaAlaAla) rs760501664
NM_024496.4(IRF2BPL):c.460G>C (p.Ala154Pro) rs1420127066
NM_024496.4(IRF2BPL):c.462CGC[5] (p.Ala161_Ala164del) rs371633333
NM_024496.4(IRF2BPL):c.472G>A (p.Ala158Thr) rs2503078200
NM_024496.4(IRF2BPL):c.485C>G (p.Ala162Gly)
NM_024496.4(IRF2BPL):c.489_491dup (p.Ala164_Val165insAla) rs772565832
NM_024496.4(IRF2BPL):c.489delinsCGCGCGCCGC (p.Ala164_Val165insArgArgAla) rs2503078137
NM_024496.4(IRF2BPL):c.490G>A (p.Ala164Thr) rs2139976037
NM_024496.4(IRF2BPL):c.491_492insCGCCGC (p.Ala164_Val165insAlaAla) rs780441372
NM_024496.4(IRF2BPL):c.492CGC[4] (p.Ala164_Val165insAlaAlaAlaAla) rs780441372
NM_024496.4(IRF2BPL):c.509G>C (p.Arg170Pro) rs1817356691
NM_024496.4(IRF2BPL):c.519C>G (p.Tyr173Ter) rs1555377415
NM_024496.4(IRF2BPL):c.544AGC[2] (p.Ser184del) rs1356971218
NM_024496.4(IRF2BPL):c.557C>T (p.Thr186Ile)
NM_024496.4(IRF2BPL):c.571A>C (p.Asn191His)
NM_024496.4(IRF2BPL):c.586C>T (p.Pro196Ser)
NM_024496.4(IRF2BPL):c.598C>T (p.Pro200Ser)
NM_024496.4(IRF2BPL):c.599C>G (p.Pro200Arg)
NM_024496.4(IRF2BPL):c.625C>T (p.Pro209Ser)
NM_024496.4(IRF2BPL):c.626del (p.Pro209fs)
NM_024496.4(IRF2BPL):c.647C>T (p.Pro216Leu) rs1594797693
NM_024496.4(IRF2BPL):c.656C>A (p.Ser219Tyr) rs771575150
NM_024496.4(IRF2BPL):c.660_662del (p.Ala223del)
NM_024496.4(IRF2BPL):c.667G>C (p.Ala223Pro) rs2139975669
NM_024496.4(IRF2BPL):c.676G>A (p.Ala226Thr) rs1480129319
NM_024496.4(IRF2BPL):c.683G>T (p.Arg228Leu) rs1398386187
NM_024496.4(IRF2BPL):c.689G>A (p.Gly230Glu) rs1885154910
NM_024496.4(IRF2BPL):c.713G>T (p.Gly238Val)
NM_024496.4(IRF2BPL):c.718C>T (p.Pro240Ser) rs2503077562
NM_024496.4(IRF2BPL):c.731G>A (p.Gly244Asp) rs559355028
NM_024496.4(IRF2BPL):c.731del (p.Gly244fs) rs1356336393
NM_024496.4(IRF2BPL):c.754G>A (p.Val252Met)
NM_024496.4(IRF2BPL):c.754G>C (p.Val252Leu)
NM_024496.4(IRF2BPL):c.764A>T (p.Asn255Ile) rs987595336
NM_024496.4(IRF2BPL):c.766C>G (p.Leu256Val) rs763769095
NM_024496.4(IRF2BPL):c.769C>G (p.Leu257Val) rs766896279
NM_024496.4(IRF2BPL):c.781C>G (p.Leu261Val) rs761740313
NM_024496.4(IRF2BPL):c.784C>T (p.Leu262Phe) rs1438263508
NM_024496.4(IRF2BPL):c.826C>A (p.Pro276Thr)
NM_024496.4(IRF2BPL):c.843C>A (p.Ser281Arg)
NM_024496.4(IRF2BPL):c.845G>A (p.Arg282His)
NM_024496.4(IRF2BPL):c.862G>C (p.Ala288Pro)
NM_024496.4(IRF2BPL):c.863C>A (p.Ala288Asp) rs1885144763
NM_024496.4(IRF2BPL):c.890C>G (p.Ala297Gly)
NM_024496.4(IRF2BPL):c.919_927dup (p.Ser309_Ser310insAlaThrSer) rs2503076968
NM_024496.4(IRF2BPL):c.968T>G (p.Val323Gly)
NM_024496.4(IRF2BPL):c.969delinsAGAGGTA (p.Val323_Gly324insGluVal) rs2503076850
NM_024496.4(IRF2BPL):c.977G>T (p.Gly326Val) rs1388318177
NM_024496.4(IRF2BPL):c.992G>A (p.Arg331Lys) rs1885139796
NM_024496.4(IRF2BPL):c.995C>T (p.Pro332Leu)

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