ClinVar Miner

List of variants in gene IRF2BP2 studied for not provided

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Gene type:
ClinVar version:
Total variants: 393
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HGVS dbSNP gnomAD frequency
NM_182972.3(IRF2BP2):c.828G>T (p.Ala276=) rs4636 0.30211
NM_182972.3(IRF2BP2):c.1119C>T (p.Asn373=) rs1059429 0.12361
NM_182972.3(IRF2BP2):c.1410C>T (p.Gly470=) rs7543281 0.11693
NM_182972.3(IRF2BP2):c.761C>T (p.Ala254Val) rs11502 0.07009
NM_182972.3(IRF2BP2):c.75C>T (p.Pro25=) rs76362154 0.02638
NM_182972.3(IRF2BP2):c.745C>T (p.His249Tyr) rs543247102 0.00076
NM_182972.3(IRF2BP2):c.93C>T (p.Asp31=) rs368532637 0.00074
NM_182972.3(IRF2BP2):c.771G>A (p.Lys257=) rs367961636 0.00039
NM_182972.3(IRF2BP2):c.1566G>A (p.Pro522=) rs144158289 0.00031
NM_182972.3(IRF2BP2):c.525C>T (p.Ser175=) rs367882369 0.00030
NM_182972.3(IRF2BP2):c.1083A>G (p.Pro361=) rs188834929 0.00028
NM_182972.3(IRF2BP2):c.912C>A (p.Thr304=) rs375536261 0.00028
NM_182972.3(IRF2BP2):c.48C>T (p.Cys16=) rs772153439 0.00018
NM_182972.3(IRF2BP2):c.11C>G (p.Ala4Gly) rs755689516 0.00016
NM_182972.3(IRF2BP2):c.896T>C (p.Val299Ala) rs137922901 0.00013
NM_182972.3(IRF2BP2):c.1138C>T (p.Leu380=) rs201012807 0.00012
NM_182972.3(IRF2BP2):c.1330G>A (p.Ala444Thr) rs766802305 0.00011
NM_182972.3(IRF2BP2):c.108C>T (p.Val36=) rs148268022 0.00009
NM_182972.3(IRF2BP2):c.1311C>T (p.Gly437=) rs376700451 0.00009
NM_182972.3(IRF2BP2):c.1569C>T (p.Ser523=) rs370705081 0.00008
NM_182972.3(IRF2BP2):c.30G>A (p.Ala10=) rs762253674 0.00008
NM_182972.3(IRF2BP2):c.504G>T (p.Pro168=) rs755232537 0.00008
NM_182972.3(IRF2BP2):c.786G>T (p.Pro262=) rs201785261 0.00007
NM_182972.3(IRF2BP2):c.1049-18A>G rs142257661 0.00006
NM_182972.3(IRF2BP2):c.111C>T (p.Cys37=) rs764501622 0.00006
NM_182972.3(IRF2BP2):c.1180A>C (p.Thr394Pro) rs138385624 0.00006
NM_182972.3(IRF2BP2):c.123C>T (p.Val41=) rs543187746 0.00006
NM_182972.3(IRF2BP2):c.532C>T (p.Pro178Ser) rs760536031 0.00006
NM_182972.3(IRF2BP2):c.1149C>T (p.Ser383=) rs760694304 0.00005
NM_182972.3(IRF2BP2):c.1272C>T (p.Pro424=) rs772478669 0.00005
NM_182972.3(IRF2BP2):c.948C>T (p.Gly316=) rs762414875 0.00005
NM_182972.3(IRF2BP2):c.1309G>A (p.Gly437Ser) rs1308735942 0.00004
NM_182972.3(IRF2BP2):c.1376C>T (p.Pro459Leu) rs150262546 0.00004
NM_182972.3(IRF2BP2):c.732_734dup (p.Ala246dup) rs987000901 0.00004
NM_182972.3(IRF2BP2):c.795G>A (p.Ala265=) rs771323054 0.00004
NM_182972.3(IRF2BP2):c.1604G>A (p.Arg535Lys) rs751005303 0.00003
NM_182972.3(IRF2BP2):c.180G>A (p.Lys60=) rs575703174 0.00003
NM_182972.3(IRF2BP2):c.189C>A (p.His63Gln) rs754511640 0.00003
NM_182972.3(IRF2BP2):c.505C>T (p.Pro169Ser) rs937929407 0.00003
NM_182972.3(IRF2BP2):c.561C>T (p.Thr187=) rs780587159 0.00003
NM_182972.3(IRF2BP2):c.903G>A (p.Arg301=) rs775764512 0.00003
NM_182972.3(IRF2BP2):c.1199C>T (p.Pro400Leu) rs370061689 0.00002
NM_182972.3(IRF2BP2):c.1573C>T (p.Pro525Ser) rs1182052495 0.00002
NM_182972.3(IRF2BP2):c.1606C>G (p.Gln536Glu) rs765750383 0.00002
NM_182972.3(IRF2BP2):c.201G>A (p.Pro67=) rs1402795565 0.00002
NM_182972.3(IRF2BP2):c.23C>G (p.Ala8Gly) rs1194522895 0.00002
NM_182972.3(IRF2BP2):c.60C>T (p.Asp20=) rs540914447 0.00002
NM_182972.3(IRF2BP2):c.747C>T (p.His249=) rs766194508 0.00002
NM_182972.3(IRF2BP2):c.791C>T (p.Pro264Leu) rs1318932625 0.00002
NM_182972.3(IRF2BP2):c.825C>T (p.Thr275=) rs754840110 0.00002
NM_182972.3(IRF2BP2):c.831C>T (p.Ala277=) rs750303958 0.00002
NM_182972.3(IRF2BP2):c.881G>C (p.Gly294Ala) rs755757862 0.00002
NM_182972.3(IRF2BP2):c.1049-11T>A rs766404287 0.00001
NM_182972.3(IRF2BP2):c.1049-13T>G rs755093089 0.00001
NM_182972.3(IRF2BP2):c.1049-19T>C rs778204236 0.00001
NM_182972.3(IRF2BP2):c.1072A>C (p.Lys358Gln) rs1490733410 0.00001
NM_182972.3(IRF2BP2):c.1075C>T (p.Pro359Ser) rs771418796 0.00001
NM_182972.3(IRF2BP2):c.1104G>A (p.Gly368=) rs934971953 0.00001
NM_182972.3(IRF2BP2):c.1114A>G (p.Ile372Val) rs755503522 0.00001
NM_182972.3(IRF2BP2):c.1169C>T (p.Pro390Leu) rs1672201885 0.00001
NM_182972.3(IRF2BP2):c.120C>T (p.Cys40=) rs1254125691 0.00001
NM_182972.3(IRF2BP2):c.1301A>G (p.Asn434Ser) rs371352845 0.00001
NM_182972.3(IRF2BP2):c.1307G>A (p.Gly436Glu) rs751453537 0.00001
NM_182972.3(IRF2BP2):c.1377C>G (p.Pro459=) rs756905633 0.00001
NM_182972.3(IRF2BP2):c.1383G>A (p.Pro461=) rs1188539882 0.00001
NM_182972.3(IRF2BP2):c.1390A>G (p.Met464Val) rs146614418 0.00001
NM_182972.3(IRF2BP2):c.1504G>T (p.Ala502Ser) rs765477009 0.00001
NM_182972.3(IRF2BP2):c.1534C>A (p.Arg512=) rs771961154 0.00001
NM_182972.3(IRF2BP2):c.1599C>T (p.Cys533=) rs758828277 0.00001
NM_182972.3(IRF2BP2):c.1639G>A (p.Val547Ile) rs377515117 0.00001
NM_182972.3(IRF2BP2):c.1641C>G (p.Val547=) rs774323091 0.00001
NM_182972.3(IRF2BP2):c.1656G>A (p.Gly552=) rs777343610 0.00001
NM_182972.3(IRF2BP2):c.1672G>A (p.Val558Met) rs747870654 0.00001
NM_182972.3(IRF2BP2):c.1673T>A (p.Val558Glu) rs1442252580 0.00001
NM_182972.3(IRF2BP2):c.1710A>G (p.Glu570=) rs552016389 0.00001
NM_182972.3(IRF2BP2):c.219C>T (p.Pro73=) rs1242258844 0.00001
NM_182972.3(IRF2BP2):c.26C>T (p.Ala9Val) rs751157125 0.00001
NM_182972.3(IRF2BP2):c.51C>T (p.Tyr17=) rs746084246 0.00001
NM_182972.3(IRF2BP2):c.522G>C (p.Gln174His) rs1346043758 0.00001
NM_182972.3(IRF2BP2):c.579C>T (p.Asn193=) rs754149764 0.00001
NM_182972.3(IRF2BP2):c.731G>A (p.Ser244Asn) rs1436297762 0.00001
NM_182972.3(IRF2BP2):c.754C>T (p.Arg252Cys) rs1459243343 0.00001
NM_182972.3(IRF2BP2):c.783G>A (p.Pro261=) rs772480347 0.00001
NM_182972.3(IRF2BP2):c.801G>C (p.Arg267=) rs1046899734 0.00001
NM_182972.3(IRF2BP2):c.803G>A (p.Gly268Asp) rs778030761 0.00001
NM_182972.3(IRF2BP2):c.804C>T (p.Gly268=) rs769928910 0.00001
NM_182972.3(IRF2BP2):c.805C>T (p.Pro269Ser) rs1370630852 0.00001
NM_182972.3(IRF2BP2):c.823A>G (p.Thr275Ala) rs1206755582 0.00001
NM_182972.3(IRF2BP2):c.826G>A (p.Ala276Thr) rs751288558 0.00001
NM_182972.3(IRF2BP2):c.827C>T (p.Ala276Val) rs779849677 0.00001
NM_182972.3(IRF2BP2):c.925C>T (p.Leu309=) rs1412426405 0.00001
NM_182972.3(IRF2BP2):c.939C>A (p.His313Gln) rs926052667 0.00001
GRCh37/hg19 1q42.3(chr1:234742883-234745240)x1
NC_000001.10:g.(?_234742883)_(234745240_?)del
NC_000001.10:g.(?_234744673)_(234746110_?)del
NM_182972.3(IRF2BP2):c.102A>G (p.Glu34=)
NM_182972.3(IRF2BP2):c.1049-10G>A
NM_182972.3(IRF2BP2):c.1049-10G>C
NM_182972.3(IRF2BP2):c.1049-14_1049-11del rs765759845
NM_182972.3(IRF2BP2):c.1049-16T>A
NM_182972.3(IRF2BP2):c.1049-18_1049-16del
NM_182972.3(IRF2BP2):c.1049-4C>G
NM_182972.3(IRF2BP2):c.1049-4C>T
NM_182972.3(IRF2BP2):c.1058C>T (p.Thr353Ile)
NM_182972.3(IRF2BP2):c.105C>A (p.Pro35=)
NM_182972.3(IRF2BP2):c.105C>T (p.Pro35=)
NM_182972.3(IRF2BP2):c.1062A>G (p.Ala354=)
NM_182972.3(IRF2BP2):c.1074G>A (p.Lys358=) rs775172451
NM_182972.3(IRF2BP2):c.1076C>T (p.Pro359Leu)
NM_182972.3(IRF2BP2):c.1087C>T (p.Pro363Ser)
NM_182972.3(IRF2BP2):c.1089A>G (p.Pro363=)
NM_182972.3(IRF2BP2):c.10_30del (p.Ala4_Ala10del)
NM_182972.3(IRF2BP2):c.1116C>G (p.Ile372Met)
NM_182972.3(IRF2BP2):c.1124_1125del (p.Glu375fs) rs1571957135
NM_182972.3(IRF2BP2):c.1127C>T (p.Ala376Val)
NM_182972.3(IRF2BP2):c.1128C>G (p.Ala376=)
NM_182972.3(IRF2BP2):c.112C>T (p.Arg38Cys)
NM_182972.3(IRF2BP2):c.1130A>T (p.Gln377Leu)
NM_182972.3(IRF2BP2):c.1131G>A (p.Gln377=)
NM_182972.3(IRF2BP2):c.1144A>G (p.Thr382Ala) rs1242839412
NM_182972.3(IRF2BP2):c.114C>T (p.Arg38=)
NM_182972.3(IRF2BP2):c.1154_1159dup (p.Gly386_Leu387insGlnGly)
NM_182972.3(IRF2BP2):c.1155G>A (p.Glu385=) rs14739
NM_182972.3(IRF2BP2):c.1155G>T (p.Glu385Asp)
NM_182972.3(IRF2BP2):c.1164G>C (p.Lys388Asn)
NM_182972.3(IRF2BP2):c.1166T>C (p.Ile389Thr) rs770470592
NM_182972.3(IRF2BP2):c.1166T>G (p.Ile389Ser) rs770470592
NM_182972.3(IRF2BP2):c.1167C>T (p.Ile389=)
NM_182972.3(IRF2BP2):c.116G>T (p.Gly39Val) rs1672277101
NM_182972.3(IRF2BP2):c.1171A>G (p.Met391Val)
NM_182972.3(IRF2BP2):c.1177C>A (p.Pro393Thr)
NM_182972.3(IRF2BP2):c.1177C>T (p.Pro393Ser)
NM_182972.3(IRF2BP2):c.117C>T (p.Gly39=)
NM_182972.3(IRF2BP2):c.1187C>G (p.Ser396Cys)
NM_182972.3(IRF2BP2):c.1188T>C (p.Ser396=)
NM_182972.3(IRF2BP2):c.1204C>T (p.Pro402Ser)
NM_182972.3(IRF2BP2):c.1211C>T (p.Thr404Ile)
NM_182972.3(IRF2BP2):c.1220C>G (p.Pro407Arg)
NM_182972.3(IRF2BP2):c.1232G>A (p.Arg411Gln)
NM_182972.3(IRF2BP2):c.1236C>G (p.Thr412=)
NM_182972.3(IRF2BP2):c.1253C>T (p.Ala418Val)
NM_182972.3(IRF2BP2):c.1259A>G (p.Asn420Ser)
NM_182972.3(IRF2BP2):c.1260T>C (p.Asn420=)
NM_182972.3(IRF2BP2):c.126C>T (p.Asn42=)
NM_182972.3(IRF2BP2):c.1273A>G (p.Met425Val) rs2102768443
NM_182972.3(IRF2BP2):c.1287C>G (p.Ile429Met) rs749581056
NM_182972.3(IRF2BP2):c.1296A>C (p.Ala432=)
NM_182972.3(IRF2BP2):c.1298A>G (p.Asp433Gly)
NM_182972.3(IRF2BP2):c.129C>T (p.Tyr43=)
NM_182972.3(IRF2BP2):c.1302T>C (p.Asn434=) rs1220052015
NM_182972.3(IRF2BP2):c.130G>A (p.Glu44Lys)
NM_182972.3(IRF2BP2):c.1310G>A (p.Gly437Asp) rs757894992
NM_182972.3(IRF2BP2):c.1315C>T (p.His439Tyr)
NM_182972.3(IRF2BP2):c.1320C>T (p.Ala440=)
NM_182972.3(IRF2BP2):c.1334A>C (p.Asn445Thr)
NM_182972.3(IRF2BP2):c.1334A>G (p.Asn445Ser) rs201835390
NM_182972.3(IRF2BP2):c.1335C>G (p.Asn445Lys)
NM_182972.3(IRF2BP2):c.1335C>T (p.Asn445=)
NM_182972.3(IRF2BP2):c.1338G>C (p.Gln446His)
NM_182972.3(IRF2BP2):c.1341_1342delinsGT (p.His448Tyr)
NM_182972.3(IRF2BP2):c.1347C>T (p.Ser449=)
NM_182972.3(IRF2BP2):c.1349C>T (p.Thr450Ile)
NM_182972.3(IRF2BP2):c.1353C>G (p.Thr451=)
NM_182972.3(IRF2BP2):c.1355G>A (p.Arg452Lys) rs2102768371
NM_182972.3(IRF2BP2):c.1358G>T (p.Arg453Met)
NM_182972.3(IRF2BP2):c.1359G>A (p.Arg453=)
NM_182972.3(IRF2BP2):c.1361A>C (p.Asn454Thr)
NM_182972.3(IRF2BP2):c.1361A>G (p.Asn454Ser)
NM_182972.3(IRF2BP2):c.1362T>C (p.Asn454=)
NM_182972.3(IRF2BP2):c.1368C>T (p.Asn456=)
NM_182972.3(IRF2BP2):c.1373C>T (p.Pro458Leu) rs1672196369
NM_182972.3(IRF2BP2):c.1375C>T (p.Pro459Ser)
NM_182972.3(IRF2BP2):c.1377C>T (p.Pro459=)
NM_182972.3(IRF2BP2):c.1379C>T (p.Ser460Phe)
NM_182972.3(IRF2BP2):c.1382C>T (p.Pro461Leu)
NM_182972.3(IRF2BP2):c.1385C>T (p.Ser462Phe)
NM_182972.3(IRF2BP2):c.1386C>T (p.Ser462=) rs2102768334
NM_182972.3(IRF2BP2):c.138C>G (p.Ala46=) rs774505217
NM_182972.3(IRF2BP2):c.1411C>G (p.Pro471Ala)
NM_182972.3(IRF2BP2):c.1414A>G (p.Arg472Gly)
NM_182972.3(IRF2BP2):c.1416A>G (p.Arg472=) rs1226171855
NM_182972.3(IRF2BP2):c.141C>G (p.Asp47Glu)
NM_182972.3(IRF2BP2):c.1420G>A (p.Val474Met)
NM_182972.3(IRF2BP2):c.1439G>A (p.Gly480Asp)
NM_182972.3(IRF2BP2):c.1451G>A (p.Gly484Glu)
NM_182972.3(IRF2BP2):c.1459C>T (p.Pro487Ser)
NM_182972.3(IRF2BP2):c.1460C>T (p.Pro487Leu) rs1672193932
NM_182972.3(IRF2BP2):c.1461A>G (p.Pro487=)
NM_182972.3(IRF2BP2):c.1462G>C (p.Val488Leu)
NM_182972.3(IRF2BP2):c.1467C>T (p.His489=)
NM_182972.3(IRF2BP2):c.1473C>T (p.Ala491=) rs1672193532
NM_182972.3(IRF2BP2):c.1476C>T (p.Ser492=)
NM_182972.3(IRF2BP2):c.1477C>T (p.Leu493Phe)
NM_182972.3(IRF2BP2):c.147C>A (p.Val49=)
NM_182972.3(IRF2BP2):c.1481C>T (p.Pro494Leu)
NM_182972.3(IRF2BP2):c.1485C>T (p.Asp495=)
NM_182972.3(IRF2BP2):c.1487C>A (p.Ser496Tyr)
NM_182972.3(IRF2BP2):c.1487C>G (p.Ser496Cys)
NM_182972.3(IRF2BP2):c.1488C>T (p.Ser496=)
NM_182972.3(IRF2BP2):c.1491_1508dup (p.Leu504_Cys505insAlaThrSerAlaProLeu)
NM_182972.3(IRF2BP2):c.1498A>G (p.Thr500Ala)
NM_182972.3(IRF2BP2):c.14TGGCGG[3] (p.Ala8_Ala9insValAla)
NM_182972.3(IRF2BP2):c.1502G>A (p.Ser501Asn)
NM_182972.3(IRF2BP2):c.1502G>T (p.Ser501Ile)
NM_182972.3(IRF2BP2):c.1506C>G (p.Ala502=) rs1177097604
NM_182972.3(IRF2BP2):c.1506C>T (p.Ala502=)
NM_182972.3(IRF2BP2):c.1507C>T (p.Pro503Ser)
NM_182972.3(IRF2BP2):c.1510C>T (p.Leu504=)
NM_182972.3(IRF2BP2):c.1513T>G (p.Cys505Gly)
NM_182972.3(IRF2BP2):c.1521C>T (p.Thr507=) rs2102768238
NM_182972.3(IRF2BP2):c.1524C>T (p.Leu508=) rs768941217
NM_182972.3(IRF2BP2):c.1530C>T (p.His510=)
NM_182972.3(IRF2BP2):c.1534C>T (p.Arg512Trp)
NM_182972.3(IRF2BP2):c.1535G>A (p.Arg512Gln)
NM_182972.3(IRF2BP2):c.153C>T (p.Phe51=) rs1460418965
NM_182972.3(IRF2BP2):c.1542G>A (p.Glu514=)
NM_182972.3(IRF2BP2):c.1548C>G (p.Thr516=)
NM_182972.3(IRF2BP2):c.1555G>A (p.Val519Met)
NM_182972.3(IRF2BP2):c.1555G>T (p.Val519Leu)
NM_182972.3(IRF2BP2):c.1566G>C (p.Pro522=)
NM_182972.3(IRF2BP2):c.1568C>G (p.Ser523Cys)
NM_182972.3(IRF2BP2):c.156C>T (p.Val52=)
NM_182972.3(IRF2BP2):c.1578G>A (p.Ser526=)
NM_182972.3(IRF2BP2):c.1587C>G (p.Phe529Leu)
NM_182972.3(IRF2BP2):c.1588T>C (p.Cys530Arg)
NM_182972.3(IRF2BP2):c.159C>A (p.Ile53=)
NM_182972.3(IRF2BP2):c.1601C>G (p.Ser534Cys) rs2102768186
NM_182972.3(IRF2BP2):c.1608_1609del (p.Ser537fs)
NM_182972.3(IRF2BP2):c.1609dup (p.Ser537fs)
NM_182972.3(IRF2BP2):c.1612A>C (p.Ile538Leu)
NM_182972.3(IRF2BP2):c.1615A>G (p.Lys539Glu)
NM_182972.3(IRF2BP2):c.1615A>T (p.Lys539Ter)
NM_182972.3(IRF2BP2):c.1618C>T (p.Gln540Ter)
NM_182972.3(IRF2BP2):c.1618_1621dup (p.Gln541fs) rs2102768169
NM_182972.3(IRF2BP2):c.1621C>T (p.Gln541Ter) rs1672190114
NM_182972.3(IRF2BP2):c.1626A>C (p.Gly542=)
NM_182972.3(IRF2BP2):c.1627G>A (p.Ala543Thr)
NM_182972.3(IRF2BP2):c.1628C>G (p.Ala543Gly)
NM_182972.3(IRF2BP2):c.1629T>C (p.Ala543=)
NM_182972.3(IRF2BP2):c.162G>A (p.Glu54=)
NM_182972.3(IRF2BP2):c.1632T>C (p.Ser544=) rs1672189731
NM_182972.3(IRF2BP2):c.1637_1638dup (p.Val547fs)
NM_182972.3(IRF2BP2):c.1643A>G (p.Tyr548Cys)
NM_182972.3(IRF2BP2):c.1644T>G (p.Tyr548Ter)
NM_182972.3(IRF2BP2):c.1645T>C (p.Cys549Arg)
NM_182972.3(IRF2BP2):c.1647T>A (p.Cys549Ter)
NM_182972.3(IRF2BP2):c.1665C>G (p.Cys555Trp)
NM_182972.3(IRF2BP2):c.166G>A (p.Ala56Thr)
NM_182972.3(IRF2BP2):c.1672G>C (p.Val558Leu)
NM_182972.3(IRF2BP2):c.1672G>T (p.Val558Leu)
NM_182972.3(IRF2BP2):c.1677C>T (p.Gly559=)
NM_182972.3(IRF2BP2):c.1681A>G (p.Asn561Asp)
NM_182972.3(IRF2BP2):c.1682A>G (p.Asn561Ser)
NM_182972.3(IRF2BP2):c.1682A>T (p.Asn561Ile)
NM_182972.3(IRF2BP2):c.1686C>A (p.Val562=)
NM_182972.3(IRF2BP2):c.1686C>T (p.Val562=)
NM_182972.3(IRF2BP2):c.1687C>A (p.Pro563Thr)
NM_182972.3(IRF2BP2):c.1688C>T (p.Pro563Leu) rs1672188409
NM_182972.3(IRF2BP2):c.168G>A (p.Ala56=)
NM_182972.3(IRF2BP2):c.1695C>T (p.Ala565=) rs754238262
NM_182972.3(IRF2BP2):c.1698T>C (p.Phe566=)
NM_182972.3(IRF2BP2):c.1720A>T (p.Ile574Phe)
NM_182972.3(IRF2BP2):c.172C>T (p.Gln58Ter) rs2102770327
NM_182972.3(IRF2BP2):c.174G>A (p.Gln58=)
NM_182972.3(IRF2BP2):c.1756G>A (p.Asp586Asn)
NM_182972.3(IRF2BP2):c.1759_1760del (p.Ser587fs) rs2102768068
NM_182972.3(IRF2BP2):c.1760C>G (p.Ser587Trp)
NM_182972.3(IRF2BP2):c.1761G>A (p.Ser587=)
NM_182972.3(IRF2BP2):c.1761G>C (p.Ser587=)
NM_182972.3(IRF2BP2):c.1764A>G (p.Ter588Trp)
NM_182972.3(IRF2BP2):c.181C>T (p.Arg61Trp)
NM_182972.3(IRF2BP2):c.186G>T (p.Ala62=) rs371250654
NM_182972.3(IRF2BP2):c.18G>A (p.Ala6=)
NM_182972.3(IRF2BP2):c.199C>T (p.Pro67Ser)
NM_182972.3(IRF2BP2):c.205G>A (p.Gly69Ser)
NM_182972.3(IRF2BP2):c.211T>G (p.Ser71Ala)
NM_182972.3(IRF2BP2):c.215C>T (p.Pro72Leu) rs1239988408
NM_182972.3(IRF2BP2):c.222C>A (p.Gly74=)
NM_182972.3(IRF2BP2):c.222C>T (p.Gly74=)
NM_182972.3(IRF2BP2):c.30G>T (p.Ala10=) rs762253674
NM_182972.3(IRF2BP2):c.37C>A (p.Arg13=)
NM_182972.3(IRF2BP2):c.503C>T (p.Pro168Leu)
NM_182972.3(IRF2BP2):c.510G>C (p.Glu170Asp)
NM_182972.3(IRF2BP2):c.511C>T (p.Leu171=)
NM_182972.3(IRF2BP2):c.517C>T (p.Arg173Cys)
NM_182972.3(IRF2BP2):c.518G>A (p.Arg173His) rs2102769845
NM_182972.3(IRF2BP2):c.520C>A (p.Gln174Lys) rs1233339474
NM_182972.3(IRF2BP2):c.527C>G (p.Pro176Arg) rs1312471146
NM_182972.3(IRF2BP2):c.527C>T (p.Pro176Leu)
NM_182972.3(IRF2BP2):c.52C>T (p.Leu18=)
NM_182972.3(IRF2BP2):c.531C>G (p.Asn177Lys)
NM_182972.3(IRF2BP2):c.531C>T (p.Asn177=)
NM_182972.3(IRF2BP2):c.535C>G (p.Arg179Gly) rs1367122613
NM_182972.3(IRF2BP2):c.540C>T (p.Arg180=) rs1451871535
NM_182972.3(IRF2BP2):c.541G>C (p.Gly181Arg)
NM_182972.3(IRF2BP2):c.546C>G (p.His182Gln)
NM_182972.3(IRF2BP2):c.547_548delinsTT (p.Ala183Leu)
NM_182972.3(IRF2BP2):c.551T>C (p.Val184Ala)
NM_182972.3(IRF2BP2):c.553C>G (p.Pro185Ala)
NM_182972.3(IRF2BP2):c.553C>T (p.Pro185Ser)
NM_182972.3(IRF2BP2):c.554C>T (p.Pro185Leu)
NM_182972.3(IRF2BP2):c.562C>T (p.Leu188=)
NM_182972.3(IRF2BP2):c.568C>T (p.Pro190Ser) rs779052175
NM_182972.3(IRF2BP2):c.569C>A (p.Pro190Gln) rs1558309544
NM_182972.3(IRF2BP2):c.574A>C (p.Met192Leu)
NM_182972.3(IRF2BP2):c.574A>T (p.Met192Leu)
NM_182972.3(IRF2BP2):c.575T>C (p.Met192Thr)
NM_182972.3(IRF2BP2):c.576G>C (p.Met192Ile)
NM_182972.3(IRF2BP2):c.582C>T (p.Gly194=)
NM_182972.3(IRF2BP2):c.583T>G (p.Ser195Ala)
NM_182972.3(IRF2BP2):c.587C>T (p.Ala196Val)
NM_182972.3(IRF2BP2):c.589A>G (p.Thr197Ala)
NM_182972.3(IRF2BP2):c.61C>G (p.Leu21Val)
NM_182972.3(IRF2BP2):c.65C>T (p.Pro22Leu)
NM_182972.3(IRF2BP2):c.66C>G (p.Pro22=)
NM_182972.3(IRF2BP2):c.66C>T (p.Pro22=)
NM_182972.3(IRF2BP2):c.67_75dup (p.Pro25_Trp26insArgMetPro)
NM_182972.3(IRF2BP2):c.69C>G (p.Arg23=) rs1672278242
NM_182972.3(IRF2BP2):c.6_11dup (p.Ala3_Ala4dup) rs760367432
NM_182972.3(IRF2BP2):c.719C>G (p.Ser240Cys)
NM_182972.3(IRF2BP2):c.719C>T (p.Ser240Phe)
NM_182972.3(IRF2BP2):c.71T>G (p.Met24Arg)
NM_182972.3(IRF2BP2):c.720C>T (p.Ser240=)
NM_182972.3(IRF2BP2):c.723G>C (p.Val241=)
NM_182972.3(IRF2BP2):c.732C>T (p.Ser244=)
NM_182972.3(IRF2BP2):c.733G>A (p.Ala245Thr)
NM_182972.3(IRF2BP2):c.734_755dup (p.Glu253fs)
NM_182972.3(IRF2BP2):c.737C>T (p.Ala246Val)
NM_182972.3(IRF2BP2):c.738C>G (p.Ala246=)
NM_182972.3(IRF2BP2):c.741G>A (p.Val247=)
NM_182972.3(IRF2BP2):c.744G>A (p.Glu248=)
NM_182972.3(IRF2BP2):c.747C>G (p.His249Gln) rs766194508
NM_182972.3(IRF2BP2):c.74C>G (p.Pro25Arg)
NM_182972.3(IRF2BP2):c.760G>A (p.Ala254Thr)
NM_182972.3(IRF2BP2):c.761C>A (p.Ala254Glu)
NM_182972.3(IRF2BP2):c.767C>T (p.Ala256Val)
NM_182972.3(IRF2BP2):c.784C>T (p.Pro262Ser)
NM_182972.3(IRF2BP2):c.785C>A (p.Pro262Gln)
NM_182972.3(IRF2BP2):c.788C>A (p.Pro263Gln) rs774964956
NM_182972.3(IRF2BP2):c.78G>A (p.Trp26Ter) rs2102770417
NM_182972.3(IRF2BP2):c.790C>T (p.Pro264Ser)
NM_182972.3(IRF2BP2):c.794C>T (p.Ala265Val) rs1002034303
NM_182972.3(IRF2BP2):c.796C>T (p.His266Tyr)
NM_182972.3(IRF2BP2):c.798C>G (p.His266Gln) rs1426582957
NM_182972.3(IRF2BP2):c.807G>C (p.Pro269=)
NM_182972.3(IRF2BP2):c.808G>T (p.Ala270Ser) rs1190262641
NM_182972.3(IRF2BP2):c.813C>T (p.Asp271=)
NM_182972.3(IRF2BP2):c.815G>A (p.Ser272Asn)
NM_182972.3(IRF2BP2):c.815_816delinsTT (p.Ser272Ile) rs2102769452
NM_182972.3(IRF2BP2):c.817C>T (p.Leu273=)
NM_182972.3(IRF2BP2):c.81C>T (p.Ala27=)
NM_182972.3(IRF2BP2):c.822C>A (p.Ser274=)
NM_182972.3(IRF2BP2):c.824C>T (p.Thr275Ile)
NM_182972.3(IRF2BP2):c.830C>T (p.Ala277Val)
NM_182972.3(IRF2BP2):c.837C>T (p.Ala279=)
NM_182972.3(IRF2BP2):c.838G>A (p.Ala280Thr)
NM_182972.3(IRF2BP2):c.846G>T (p.Leu282=)
NM_182972.3(IRF2BP2):c.860C>T (p.Ala287Val)
NM_182972.3(IRF2BP2):c.864C>T (p.Gly288=) rs768782125
NM_182972.3(IRF2BP2):c.866A>G (p.Lys289Arg)
NM_182972.3(IRF2BP2):c.869G>A (p.Ser290Asn)
NM_182972.3(IRF2BP2):c.870C>T (p.Ser290=) rs910869393
NM_182972.3(IRF2BP2):c.872G>A (p.Arg291His)
NM_182972.3(IRF2BP2):c.873C>G (p.Arg291=) rs758151588
NM_182972.3(IRF2BP2):c.873C>T (p.Arg291=)
NM_182972.3(IRF2BP2):c.875G>A (p.Gly292Glu) rs778815968
NM_182972.3(IRF2BP2):c.875G>T (p.Gly292Val)
NM_182972.3(IRF2BP2):c.877T>C (p.Ser293Pro)
NM_182972.3(IRF2BP2):c.878C>T (p.Ser293Phe)
NM_182972.3(IRF2BP2):c.87C>T (p.Ile29=)
NM_182972.3(IRF2BP2):c.888G>A (p.Gln296=)
NM_182972.3(IRF2BP2):c.888G>C (p.Gln296His)
NM_182972.3(IRF2BP2):c.891C>G (p.Asp297Glu) rs534658803
NM_182972.3(IRF2BP2):c.891C>T (p.Asp297=)
NM_182972.3(IRF2BP2):c.893G>C (p.Trp298Ser) rs567224143
NM_182972.3(IRF2BP2):c.895G>A (p.Val299Ile)
NM_182972.3(IRF2BP2):c.897C>A (p.Val299=) rs146468937
NM_182972.3(IRF2BP2):c.897C>T (p.Val299=) rs146468937
NM_182972.3(IRF2BP2):c.898A>G (p.Asn300Asp)
NM_182972.3(IRF2BP2):c.8C>G (p.Ala3Gly)
NM_182972.3(IRF2BP2):c.8CGG[4] (p.Ala4_Val5insAlaAla)
NM_182972.3(IRF2BP2):c.905C>G (p.Pro302Arg) rs1289654852
NM_182972.3(IRF2BP2):c.918C>G (p.Arg306=) rs537339601
NM_182972.3(IRF2BP2):c.918C>T (p.Arg306=)
NM_182972.3(IRF2BP2):c.921C>G (p.Asp307Glu) rs371081063
NM_182972.3(IRF2BP2):c.924G>C (p.Thr308=) rs755593681
NM_182972.3(IRF2BP2):c.928C>T (p.Leu310=) rs1672238574
NM_182972.3(IRF2BP2):c.939C>T (p.His313=)
NM_182972.3(IRF2BP2):c.940C>T (p.Gln314Ter)
NM_182972.3(IRF2BP2):c.949C>T (p.His317Tyr)
NM_182972.3(IRF2BP2):c.951C>G (p.His317Gln)
NM_182972.3(IRF2BP2):c.96C>T (p.Phe32=)
NM_182972.3(IRF2BP2):c.9G>A (p.Ala3=)

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