ClinVar Miner

List of variants in gene IMPDH1 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 506
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HGVS dbSNP gnomAD frequency
NM_000883.4(IMPDH1):c.354-227T>C rs2288549 0.78209
NM_000883.4(IMPDH1):c.1575G>A (p.Ala525=) rs2228075 0.26135
NM_000883.4(IMPDH1):c.987G>C (p.Leu329=) rs2288550 0.13918
NM_000883.4(IMPDH1):c.1405+33C>T rs28580600 0.13015
NM_000883.4(IMPDH1):c.*228G>A rs72624976 0.01836
NM_000883.4(IMPDH1):c.*634C>T rs1803822 0.01623
NM_000883.4(IMPDH1):c.*597G>A rs1803821 0.01620
NM_000883.4(IMPDH1):c.1338C>T (p.Ile446=) rs199623010 0.00246
NM_000883.4(IMPDH1):c.1074+6G>T rs61751224 0.00239
NM_000883.4(IMPDH1):c.1074+7C>T rs72624958 0.00237
NM_000883.4(IMPDH1):c.1142A>G (p.His381Arg) rs61751223 0.00212
NM_000883.4(IMPDH1):c.1108G>A (p.Ala370Thr) rs72624961 0.00179
NM_000883.4(IMPDH1):c.402+57G>A rs72624951 0.00169
NM_000883.4(IMPDH1):c.1489C>T (p.Arg497Trp) rs72624967 0.00147
NM_000883.4(IMPDH1):c.1545C>T (p.Tyr515=) rs141600946 0.00111
NM_000883.4(IMPDH1):c.1598A>G (p.Gln533Arg) rs144498273 0.00088
NM_000883.4(IMPDH1):c.336C>T (p.Ala112=) rs547740249 0.00081
NM_000883.4(IMPDH1):c.1173A>G (p.Thr391=) rs138502867 0.00075
NM_000883.4(IMPDH1):c.189A>G (p.Ser63=) rs143796089 0.00063
NM_000883.4(IMPDH1):c.1405+9A>G rs11562030 0.00050
NM_000883.4(IMPDH1):c.833C>T (p.Thr278Met) rs149093302 0.00043
NM_000883.4(IMPDH1):c.769A>G (p.Thr257Ala) rs144659635 0.00040
NM_000883.4(IMPDH1):c.568C>T (p.Arg190Trp) rs121912553 0.00038
NM_000883.4(IMPDH1):c.254+17C>T rs376689661 0.00032
NM_000883.4(IMPDH1):c.1694+16G>A rs374288001 0.00031
NM_000883.4(IMPDH1):c.218G>A (p.Gly73Asp) rs139979391 0.00031
NM_000883.4(IMPDH1):c.888C>T (p.Ile296=) rs72624957 0.00031
NM_000883.4(IMPDH1):c.1714G>C (p.Glu572Gln) rs150628823 0.00025
NM_000883.4(IMPDH1):c.624C>G (p.Pro208=) rs758909916 0.00024
NM_000883.4(IMPDH1):c.1074+8C>T rs369992949 0.00022
NM_000883.4(IMPDH1):c.1653C>T (p.His551=) rs147882304 0.00019
NM_000883.4(IMPDH1):c.1668C>T (p.Ile556=) rs201803921 0.00019
NM_000883.4(IMPDH1):c.1226G>A (p.Gly409Asp) rs375914533 0.00017
NM_000883.4(IMPDH1):c.403-16G>C rs371106901 0.00017
NM_000883.4(IMPDH1):c.841G>C (p.Glu281Gln) rs145014241 0.00016
NM_000883.4(IMPDH1):c.754G>T (p.Ala252Ser) rs756851981 0.00015
NM_000883.4(IMPDH1):c.1386G>A (p.Leu462=) rs144587211 0.00014
NM_000883.4(IMPDH1):c.1030C>T (p.Arg344Cys) rs370988040 0.00013
NM_000883.4(IMPDH1):c.930C>T (p.Thr310=) rs150531977 0.00013
NM_000883.4(IMPDH1):c.377T>C (p.Phe126Ser) rs367549284 0.00012
NM_000883.4(IMPDH1):c.537C>T (p.Asn179=) rs369080233 0.00012
NM_000883.4(IMPDH1):c.1662G>A (p.Gln554=) rs139785999 0.00011
NM_000883.4(IMPDH1):c.1551C>T (p.Ser517=) rs148875137 0.00010
NM_000883.4(IMPDH1):c.353+8C>A rs751655097 0.00010
NM_000883.4(IMPDH1):c.675T>C (p.Ser225=) rs373353058 0.00010
NM_000883.4(IMPDH1):c.813G>T (p.Val271=) rs758238094 0.00010
NM_000883.4(IMPDH1):c.147-19A>G rs201236962 0.00009
NM_000883.4(IMPDH1):c.1603A>G (p.Lys535Glu) rs141572081 0.00009
NM_000883.4(IMPDH1):c.627G>A (p.Ser209=) rs376092198 0.00009
NM_000883.4(IMPDH1):c.639C>T (p.Gly213=) rs776742214 0.00009
NM_000883.4(IMPDH1):c.1360A>G (p.Thr454Ala) rs141568988 0.00008
NM_000883.4(IMPDH1):c.1475G>A (p.Arg492Gln) rs140785990 0.00008
NM_000883.4(IMPDH1):c.166A>G (p.Thr56Ala) rs148474921 0.00008
NM_000883.4(IMPDH1):c.580-12C>T rs750645467 0.00008
NM_000883.4(IMPDH1):c.787-12C>G rs749839343 0.00007
NM_000883.4(IMPDH1):c.1057G>A (p.Val353Ile) rs121912551 0.00006
NM_000883.4(IMPDH1):c.1165+14C>T rs72624962 0.00006
NM_000883.4(IMPDH1):c.1275T>C (p.Gly425=) rs558290511 0.00006
NM_000883.4(IMPDH1):c.1574C>T (p.Ala525Val) rs576852864 0.00006
NM_000883.4(IMPDH1):c.1675C>T (p.Arg559Cys) rs777346676 0.00006
NM_000883.4(IMPDH1):c.1778C>T (p.Ser593Phe) rs760603000 0.00006
NM_000883.4(IMPDH1):c.443C>T (p.Thr148Met) rs150278198 0.00006
NM_000883.4(IMPDH1):c.580-5C>T rs369196946 0.00006
NM_000883.4(IMPDH1):c.1165+15G>A rs544315308 0.00005
NM_000883.4(IMPDH1):c.1280C>T (p.Pro427Leu) rs763999626 0.00005
NM_000883.4(IMPDH1):c.1350C>T (p.Gly450=) rs780213373 0.00005
NM_000883.4(IMPDH1):c.1695-19C>T rs747748998 0.00005
NM_000883.4(IMPDH1):c.504+20G>C rs538997339 0.00005
NM_000883.4(IMPDH1):c.579+16G>T rs72624954 0.00005
NM_000883.4(IMPDH1):c.661C>T (p.Arg221Trp) rs771930753 0.00005
NM_000883.4(IMPDH1):c.663G>A (p.Arg221=) rs748153361 0.00005
NM_000883.4(IMPDH1):c.1060G>A (p.Asp354Asn) rs139858944 0.00004
NM_000883.4(IMPDH1):c.1164C>T (p.Asn388=) rs149603914 0.00004
NM_000883.4(IMPDH1):c.1212C>T (p.Asp404=) rs974835184 0.00004
NM_000883.4(IMPDH1):c.1261+3G>T rs966870873 0.00004
NM_000883.4(IMPDH1):c.1344C>T (p.Ala448=) rs749443650 0.00004
NM_000883.4(IMPDH1):c.1406-9C>T rs200403236 0.00004
NM_000883.4(IMPDH1):c.147-14C>T rs544932432 0.00004
NM_000883.4(IMPDH1):c.1623C>T (p.Phe541=) rs749416988 0.00004
NM_000883.4(IMPDH1):c.1654G>A (p.Gly552Ser) rs149762411 0.00004
NM_000883.4(IMPDH1):c.1742C>T (p.Ser581Leu) rs777660613 0.00004
NM_000883.4(IMPDH1):c.1779-3C>T rs761367230 0.00004
NM_000883.4(IMPDH1):c.1789C>T (p.Arg597Trp) rs530357590 0.00004
NM_000883.4(IMPDH1):c.402+15C>T rs753704501 0.00004
NM_000883.4(IMPDH1):c.425G>A (p.Arg142Gln) rs552026245 0.00004
NM_000883.4(IMPDH1):c.561C>T (p.Asn187=) rs1042250 0.00004
NM_000883.4(IMPDH1):c.602C>T (p.Thr201Met) rs530528335 0.00004
NM_000883.4(IMPDH1):c.626C>T (p.Ser209Leu) rs569384868 0.00004
NM_000883.4(IMPDH1):c.634G>A (p.Val212Met) rs1482492681 0.00004
NM_000883.4(IMPDH1):c.745G>A (p.Asp249Asn) rs767447708 0.00004
NM_000883.4(IMPDH1):c.921C>T (p.Ile307=) rs371759273 0.00004
NM_000883.4(IMPDH1):c.1075-15C>T rs775380384 0.00003
NM_000883.4(IMPDH1):c.1079C>T (p.Ser360Leu) rs72624960 0.00003
NM_000883.4(IMPDH1):c.1107C>T (p.Ile369=) rs200729507 0.00003
NM_000883.4(IMPDH1):c.1436C>T (p.Thr479Met) rs201001000 0.00003
NM_000883.4(IMPDH1):c.1573G>A (p.Ala525Thr) rs367951647 0.00003
NM_000883.4(IMPDH1):c.1626G>C (p.Val542=) rs767533140 0.00003
NM_000883.4(IMPDH1):c.1743G>A (p.Ser581=) rs765536215 0.00003
NM_000883.4(IMPDH1):c.580-13T>C rs773138031 0.00003
NM_000883.4(IMPDH1):c.580-4G>A rs754409821 0.00003
NM_000883.4(IMPDH1):c.726C>T (p.Ile242=) rs753084534 0.00003
NM_000883.4(IMPDH1):c.737G>A (p.Arg246Gln) rs201071873 0.00003
NM_000883.4(IMPDH1):c.744C>T (p.Ile248=) rs372642229 0.00003
NM_000883.4(IMPDH1):c.1095G>A (p.Ser365=) rs371337802 0.00002
NM_000883.4(IMPDH1):c.1236C>T (p.Cys412=) rs761238212 0.00002
NM_000883.4(IMPDH1):c.1321C>T (p.Arg441Cys) rs748430457 0.00002
NM_000883.4(IMPDH1):c.1449C>T (p.Gly483=) rs987570514 0.00002
NM_000883.4(IMPDH1):c.1538A>C (p.Lys513Thr) rs763473401 0.00002
NM_000883.4(IMPDH1):c.1550+9A>T rs374987865 0.00002
NM_000883.4(IMPDH1):c.1584C>T (p.Val528=) rs745379133 0.00002
NM_000883.4(IMPDH1):c.1589G>A (p.Gly530Asp) rs756992593 0.00002
NM_000883.4(IMPDH1):c.1800A>G (p.Ter600Trp) rs747314543 0.00002
NM_000883.4(IMPDH1):c.195A>G (p.Leu65=) rs753636717 0.00002
NM_000883.4(IMPDH1):c.254+20C>G rs764261327 0.00002
NM_000883.4(IMPDH1):c.255-16C>T rs1441430805 0.00002
NM_000883.4(IMPDH1):c.255-2A>G rs1238921380 0.00002
NM_000883.4(IMPDH1):c.270G>C (p.Leu90=) rs771690979 0.00002
NM_000883.4(IMPDH1):c.312C>G (p.Thr104=) rs753065401 0.00002
NM_000883.4(IMPDH1):c.403-20G>A rs773721981 0.00002
NM_000883.4(IMPDH1):c.543C>T (p.Thr181=) rs763057675 0.00002
NM_000883.4(IMPDH1):c.753T>C (p.Leu251=) rs988301762 0.00002
NM_000883.4(IMPDH1):c.869A>G (p.Lys290Arg) rs1185316015 0.00002
NM_000883.4(IMPDH1):c.900C>T (p.Cys300=) rs41281737 0.00002
NM_000883.4(IMPDH1):c.1012C>T (p.Arg338Cys) rs776847595 0.00001
NM_000883.4(IMPDH1):c.1031G>A (p.Arg344His) rs1238910577 0.00001
NM_000883.4(IMPDH1):c.1053G>A (p.Ala351=) rs954543590 0.00001
NM_000883.4(IMPDH1):c.1056C>T (p.Gly352=) rs779143637 0.00001
NM_000883.4(IMPDH1):c.1062C>T (p.Asp354=) rs916033627 0.00001
NM_000883.4(IMPDH1):c.1075-14G>A rs1382287119 0.00001
NM_000883.4(IMPDH1):c.1080G>A (p.Ser360=) rs781329681 0.00001
NM_000883.4(IMPDH1):c.1115T>G (p.Val372Gly) rs1457457563 0.00001
NM_000883.4(IMPDH1):c.1165+8C>T rs577834994 0.00001
NM_000883.4(IMPDH1):c.1165+9G>A rs369316633 0.00001
NM_000883.4(IMPDH1):c.1206T>C (p.Gly402=) rs1337846748 0.00001
NM_000883.4(IMPDH1):c.1219C>T (p.Arg407Cys) rs758941308 0.00001
NM_000883.4(IMPDH1):c.1228A>C (p.Met410Leu) rs759859452 0.00001
NM_000883.4(IMPDH1):c.1237G>A (p.Gly413Ser) rs1167056466 0.00001
NM_000883.4(IMPDH1):c.1292C>G (p.Ala431Gly) rs1009414938 0.00001
NM_000883.4(IMPDH1):c.1311G>A (p.Glu437=) rs769443239 0.00001
NM_000883.4(IMPDH1):c.1345G>A (p.Asp449Asn) rs1419426957 0.00001
NM_000883.4(IMPDH1):c.1371C>T (p.His457=) rs1175282643 0.00001
NM_000883.4(IMPDH1):c.1372G>A (p.Val458Met) rs762811874 0.00001
NM_000883.4(IMPDH1):c.1405+3G>A rs776385488 0.00001
NM_000883.4(IMPDH1):c.1406-7A>G rs943850900 0.00001
NM_000883.4(IMPDH1):c.1428C>T (p.Ala476=) rs199527034 0.00001
NM_000883.4(IMPDH1):c.1443C>T (p.Ala481=) rs1228416467 0.00001
NM_000883.4(IMPDH1):c.1467C>T (p.Asp489=) rs530733258 0.00001
NM_000883.4(IMPDH1):c.1480A>G (p.Lys494Glu) rs778966151 0.00001
NM_000883.4(IMPDH1):c.1536G>A (p.Gln512=) rs572975271 0.00001
NM_000883.4(IMPDH1):c.1566G>A (p.Val522=) rs1797775957 0.00001
NM_000883.4(IMPDH1):c.1586C>T (p.Ser529Leu) rs143391643 0.00001
NM_000883.4(IMPDH1):c.159C>T (p.Asp53=) rs768265149 0.00001
NM_000883.4(IMPDH1):c.1719C>G (p.Leu573=) rs962883530 0.00001
NM_000883.4(IMPDH1):c.1722G>A (p.Lys574=) rs751607766 0.00001
NM_000883.4(IMPDH1):c.1766A>G (p.His589Arg) rs1191029159 0.00001
NM_000883.4(IMPDH1):c.176C>G (p.Thr59Arg) rs147250451 0.00001
NM_000883.4(IMPDH1):c.176C>T (p.Thr59Met) rs147250451 0.00001
NM_000883.4(IMPDH1):c.1778+1G>A rs772619634 0.00001
NM_000883.4(IMPDH1):c.1782C>T (p.Tyr594=) rs368622318 0.00001
NM_000883.4(IMPDH1):c.235G>A (p.Asp79Asn) rs1016744642 0.00001
NM_000883.4(IMPDH1):c.236A>C (p.Asp79Ala) rs1323043813 0.00001
NM_000883.4(IMPDH1):c.255-10C>T rs1478038443 0.00001
NM_000883.4(IMPDH1):c.255-9T>A rs772749662 0.00001
NM_000883.4(IMPDH1):c.279C>T (p.Gly93=) rs1399603251 0.00001
NM_000883.4(IMPDH1):c.281G>T (p.Gly94Val) rs1192233271 0.00001
NM_000883.4(IMPDH1):c.335C>A (p.Ala112Asp) rs1318719055 0.00001
NM_000883.4(IMPDH1):c.354-17C>T rs761400896 0.00001
NM_000883.4(IMPDH1):c.354C>T (p.Asn118=) rs1798504836 0.00001
NM_000883.4(IMPDH1):c.375A>G (p.Gly125=) rs1283398394 0.00001
NM_000883.4(IMPDH1):c.389T>G (p.Ile130Arg) rs748340852 0.00001
NM_000883.4(IMPDH1):c.406C>T (p.Leu136=) rs748302871 0.00001
NM_000883.4(IMPDH1):c.426G>T (p.Arg142=) rs965327543 0.00001
NM_000883.4(IMPDH1):c.435G>A (p.Thr145=) rs138882932 0.00001
NM_000883.4(IMPDH1):c.492C>T (p.Ala164=) rs762299480 0.00001
NM_000883.4(IMPDH1):c.505-7A>G rs1439062686 0.00001
NM_000883.4(IMPDH1):c.579+3A>G rs372943232 0.00001
NM_000883.4(IMPDH1):c.580-15C>A rs746842871 0.00001
NM_000883.4(IMPDH1):c.580-17C>T rs771256491 0.00001
NM_000883.4(IMPDH1):c.598A>G (p.Ile200Val) rs1798254254 0.00001
NM_000883.4(IMPDH1):c.642T>C (p.Asp214=) rs780809341 0.00001
NM_000883.4(IMPDH1):c.681C>A (p.Ile227=) rs886042980 0.00001
NM_000883.4(IMPDH1):c.696G>A (p.Thr232=) rs781190817 0.00001
NM_000883.4(IMPDH1):c.727G>A (p.Val243Ile) rs779330002 0.00001
NM_000883.4(IMPDH1):c.728T>C (p.Val243Ala) rs140233296 0.00001
NM_000883.4(IMPDH1):c.781A>T (p.Ser261Cys) rs1252835165 0.00001
NM_000883.4(IMPDH1):c.794C>T (p.Thr265Met) rs182196127 0.00001
NM_000883.4(IMPDH1):c.799A>G (p.Arg267Gly) rs751763023 0.00001
NM_000883.4(IMPDH1):c.858G>A (p.Leu286=) rs1798211383 0.00001
NM_000883.4(IMPDH1):c.862C>T (p.Arg288Cys) rs144929093 0.00001
NM_000883.4(IMPDH1):c.863G>A (p.Arg288His) rs1027214657 0.00001
NM_000883.4(IMPDH1):c.874+5C>T rs1184864676 0.00001
NM_000883.4(IMPDH1):c.874+9G>A rs757310884 0.00001
NM_000883.4(IMPDH1):c.875-16C>G rs767333304 0.00001
NM_000883.4(IMPDH1):c.901G>A (p.Asp301Asn) rs140399669 0.00001
NM_000883.4(IMPDH1):c.946C>T (p.Arg316Ter) rs1282816133 0.00001
NM_000883.4(IMPDH1):c.952T>C (p.Tyr318His) rs1224428162 0.00001
NM_000883.4(IMPDH1):c.956C>T (p.Pro319Leu) rs1798087958 0.00001
NC_000007.13:g.(?_128033061)_(128049955_?)dup
NC_000007.13:g.(?_128045801)_(128049955_?)del
NC_000007.13:g.(?_128045821)_(128049955_?)del
NC_000007.13:g.(?_128049475)_(128049955_?)dup
NC_000007.14:g.(?_128392911)_(128393755_?)del
NM_000883.4(IMPDH1):c.*137G>C rs72624973
NM_000883.4(IMPDH1):c.1040T>G (p.Leu347Arg)
NM_000883.4(IMPDH1):c.1048C>T (p.Gln350Ter) rs1218568607
NM_000883.4(IMPDH1):c.1052C>A (p.Ala351Glu) rs748397513
NM_000883.4(IMPDH1):c.1052C>T (p.Ala351Val)
NM_000883.4(IMPDH1):c.1063G>A (p.Val355Ile)
NM_000883.4(IMPDH1):c.1067_1068del (p.Ile356fs)
NM_000883.4(IMPDH1):c.1074+12G>A
NM_000883.4(IMPDH1):c.1074+18G>A
NM_000883.4(IMPDH1):c.1074+6_1074+7delinsTT rs797044629
NM_000883.4(IMPDH1):c.1074G>C (p.Leu358Phe) rs1584727593
NM_000883.4(IMPDH1):c.1075-11C>T
NM_000883.4(IMPDH1):c.1075-12C>T
NM_000883.4(IMPDH1):c.1075-15del
NM_000883.4(IMPDH1):c.1075-19C>T
NM_000883.4(IMPDH1):c.1075-6T>G
NM_000883.4(IMPDH1):c.1082C>T (p.Ser361Phe)
NM_000883.4(IMPDH1):c.1085A>C (p.Gln362Pro)
NM_000883.4(IMPDH1):c.1094C>A (p.Ser365Ter)
NM_000883.4(IMPDH1):c.1094C>T (p.Ser365Leu)
NM_000883.4(IMPDH1):c.1100A>G (p.Tyr367Cys)
NM_000883.4(IMPDH1):c.1127A>G (p.Lys376Arg)
NM_000883.4(IMPDH1):c.1128A>G (p.Lys376=)
NM_000883.4(IMPDH1):c.1140C>T (p.Pro380=)
NM_000883.4(IMPDH1):c.1141C>T (p.His381Tyr)
NM_000883.4(IMPDH1):c.1143C>T (p.His381=)
NM_000883.4(IMPDH1):c.1154T>C (p.Ile385Thr)
NM_000883.4(IMPDH1):c.1157G>T (p.Gly386Val) rs373276383
NM_000883.4(IMPDH1):c.1165+16C>T rs200085694
NM_000883.4(IMPDH1):c.1165+5G>C
NM_000883.4(IMPDH1):c.1165+7G>A rs909438692
NM_000883.4(IMPDH1):c.1165+9G>C rs369316633
NM_000883.4(IMPDH1):c.1165G>A (p.Val389Met)
NM_000883.4(IMPDH1):c.1166-14A>G
NM_000883.4(IMPDH1):c.1166-18C>T
NM_000883.4(IMPDH1):c.1166-3C>T
NM_000883.4(IMPDH1):c.1166-4C>A
NM_000883.4(IMPDH1):c.1166-9C>T
NM_000883.4(IMPDH1):c.1171A>G (p.Thr391Ala) rs2116620192
NM_000883.4(IMPDH1):c.1178C>T (p.Ala393Val)
NM_000883.4(IMPDH1):c.1195A>G (p.Ile399Val)
NM_000883.4(IMPDH1):c.1215G>A (p.Gly405=)
NM_000883.4(IMPDH1):c.1221C>T (p.Arg407=)
NM_000883.4(IMPDH1):c.1222G>C (p.Val408Leu)
NM_000883.4(IMPDH1):c.1228A>G (p.Met410Val) rs759859452
NM_000883.4(IMPDH1):c.1243A>C (p.Ile415Leu) rs2116619043
NM_000883.4(IMPDH1):c.1261+11G>C
NM_000883.4(IMPDH1):c.1261+20C>G
NM_000883.4(IMPDH1):c.1262-10C>T
NM_000883.4(IMPDH1):c.1262-12A>G
NM_000883.4(IMPDH1):c.1262-16C>T
NM_000883.4(IMPDH1):c.1262-1G>T
NM_000883.4(IMPDH1):c.1262-6C>T
NM_000883.4(IMPDH1):c.1262-9C>T
NM_000883.4(IMPDH1):c.1267G>T (p.Ala423Ser) rs987967710
NM_000883.4(IMPDH1):c.1270T>A (p.Cys424Ser)
NM_000883.4(IMPDH1):c.1277G>A (p.Arg426Gln)
NM_000883.4(IMPDH1):c.1292C>T (p.Ala431Val)
NM_000883.4(IMPDH1):c.1296G>T (p.Val432=)
NM_000883.4(IMPDH1):c.1299_1313del (p.Lys434_Tyr438del) rs1480970867
NM_000883.4(IMPDH1):c.1305G>A (p.Val435=)
NM_000883.4(IMPDH1):c.1326T>C (p.Phe442=)
NM_000883.4(IMPDH1):c.1347T>C (p.Asp449=)
NM_000883.4(IMPDH1):c.1348GGC[1] (p.Gly451del)
NM_000883.4(IMPDH1):c.1362C>A (p.Thr454=) rs62481098
NM_000883.4(IMPDH1):c.1362C>G (p.Thr454=) rs62481098
NM_000883.4(IMPDH1):c.1362C>T (p.Thr454=) rs62481098
NM_000883.4(IMPDH1):c.1363G>A (p.Val455Met)
NM_000883.4(IMPDH1):c.1368A>G (p.Gly456=) rs764087422
NM_000883.4(IMPDH1):c.1405+17C>T
NM_000883.4(IMPDH1):c.1405+1G>A
NM_000883.4(IMPDH1):c.1406-17T>C
NM_000883.4(IMPDH1):c.1406-44del rs72624966
NM_000883.4(IMPDH1):c.1416C>T (p.Gly472=)
NM_000883.4(IMPDH1):c.1429G>A (p.Ala477Thr)
NM_000883.4(IMPDH1):c.1433C>G (p.Thr478Ser) rs564132747
NM_000883.4(IMPDH1):c.1437G>A (p.Thr479=)
NM_000883.4(IMPDH1):c.1446T>G (p.Pro482=)
NM_000883.4(IMPDH1):c.1457TCT[1] (p.Phe487del) rs564828105
NM_000883.4(IMPDH1):c.1458_1461dup (p.Ser488fs)
NM_000883.4(IMPDH1):c.1468G>A (p.Gly490Arg)
NM_000883.4(IMPDH1):c.147-11T>A
NM_000883.4(IMPDH1):c.147-7A>C
NM_000883.4(IMPDH1):c.147C>T (p.Ser49=)
NM_000883.4(IMPDH1):c.1489C>G (p.Arg497Gly)
NM_000883.4(IMPDH1):c.1490G>A (p.Arg497Gln)
NM_000883.4(IMPDH1):c.1494C>G (p.Gly498=) rs1023178553
NM_000883.4(IMPDH1):c.1504C>G (p.Leu502Val) rs1584715237
NM_000883.4(IMPDH1):c.1526G>A (p.Ser509Asn) rs1797804625
NM_000883.4(IMPDH1):c.152G>C (p.Arg51Thr) rs762110519
NM_000883.4(IMPDH1):c.1540C>T (p.Arg514Ter)
NM_000883.4(IMPDH1):c.1550+10C>T rs2116599951
NM_000883.4(IMPDH1):c.1550+12C>A
NM_000883.4(IMPDH1):c.1550+12C>T
NM_000883.4(IMPDH1):c.1550+19C>T
NM_000883.4(IMPDH1):c.1550+20C>A
NM_000883.4(IMPDH1):c.1550+5C>T
NM_000883.4(IMPDH1):c.1551-13A>G
NM_000883.4(IMPDH1):c.1551-15C>G rs2116596429
NM_000883.4(IMPDH1):c.1551-4G>A rs376431130
NM_000883.4(IMPDH1):c.1551-4G>T rs376431130
NM_000883.4(IMPDH1):c.1551-5C>A rs370558710
NM_000883.4(IMPDH1):c.1551-5C>T rs370558710
NM_000883.4(IMPDH1):c.1559A>C (p.Asp520Ala)
NM_000883.4(IMPDH1):c.1561A>G (p.Lys521Glu)
NM_000883.4(IMPDH1):c.156G>A (p.Leu52=)
NM_000883.4(IMPDH1):c.1572C>G (p.Ile524Met)
NM_000883.4(IMPDH1):c.1572C>T (p.Ile524=) rs267601273
NM_000883.4(IMPDH1):c.1581T>C (p.Gly527=)
NM_000883.4(IMPDH1):c.1582G>T (p.Val528Phe) rs2116595584
NM_000883.4(IMPDH1):c.1587G>T (p.Ser529=)
NM_000883.4(IMPDH1):c.1605A>G (p.Lys535=)
NM_000883.4(IMPDH1):c.1605del (p.Gly536fs) rs1391527038
NM_000883.4(IMPDH1):c.1612A>G (p.Ile538Val)
NM_000883.4(IMPDH1):c.1618A>G (p.Lys540Glu)
NM_000883.4(IMPDH1):c.1636A>G (p.Ile546Val) rs1797769213
NM_000883.4(IMPDH1):c.1639G>A (p.Ala547Thr) rs1797768699
NM_000883.4(IMPDH1):c.1642G>A (p.Gly548Ser) rs1312955440
NM_000883.4(IMPDH1):c.1644C>T (p.Gly548=)
NM_000883.4(IMPDH1):c.1648C>G (p.Gln550Glu)
NM_000883.4(IMPDH1):c.1677C>A (p.Arg559=)
NM_000883.4(IMPDH1):c.1686_1689del (p.Val563fs) rs2116594089
NM_000883.4(IMPDH1):c.1694+20del rs748320041
NM_000883.4(IMPDH1):c.1694+7G>A
NM_000883.4(IMPDH1):c.1694+9T>C
NM_000883.4(IMPDH1):c.1695-18C>T
NM_000883.4(IMPDH1):c.1695-5C>T
NM_000883.4(IMPDH1):c.1695-7C>G
NM_000883.4(IMPDH1):c.1695-7_1695-4del
NM_000883.4(IMPDH1):c.1699A>G (p.Met567Val)
NM_000883.4(IMPDH1):c.169C>T (p.His57Tyr) rs1798992588
NM_000883.4(IMPDH1):c.1701G>A (p.Met567Ile)
NM_000883.4(IMPDH1):c.1711G>A (p.Gly571Arg)
NM_000883.4(IMPDH1):c.1730A>G (p.Lys577Arg) rs1797751525
NM_000883.4(IMPDH1):c.1732C>T (p.Arg578Trp) rs564606103
NM_000883.4(IMPDH1):c.1737C>T (p.Thr579=) rs1159524621
NM_000883.4(IMPDH1):c.1746C>T (p.Ala582=) rs2116591776
NM_000883.4(IMPDH1):c.1767T>C (p.His589=)
NM_000883.4(IMPDH1):c.1770C>T (p.Gly590=)
NM_000883.4(IMPDH1):c.1778+12_1778+14delinsAAA rs2116591017
NM_000883.4(IMPDH1):c.1778+17C>T
NM_000883.4(IMPDH1):c.1778+3A>G
NM_000883.4(IMPDH1):c.1778+5G>A rs1797745177
NM_000883.4(IMPDH1):c.1779-10G>C rs773237126
NM_000883.4(IMPDH1):c.1779-17T>G
NM_000883.4(IMPDH1):c.1782C>A (p.Tyr594Ter)
NM_000883.4(IMPDH1):c.1790G>A (p.Arg597Gln)
NM_000883.4(IMPDH1):c.1796A>C (p.Tyr599Ser) rs2116574105
NM_000883.4(IMPDH1):c.179C>T (p.Thr60Ile)
NM_000883.4(IMPDH1):c.184C>A (p.Arg62Ser) rs926912595
NM_000883.4(IMPDH1):c.184C>G (p.Arg62Gly)
NM_000883.4(IMPDH1):c.184C>T (p.Arg62Cys)
NM_000883.4(IMPDH1):c.190+10A>G
NM_000883.4(IMPDH1):c.190+15del
NM_000883.4(IMPDH1):c.190+17G>A rs1374463411
NM_000883.4(IMPDH1):c.190+7C>T rs756962947
NM_000883.4(IMPDH1):c.191A>G (p.Glu64Gly)
NM_000883.4(IMPDH1):c.214G>A (p.Ala72Thr)
NM_000883.4(IMPDH1):c.227T>G (p.Val76Gly) rs2116748572
NM_000883.4(IMPDH1):c.232A>T (p.Met78Leu)
NM_000883.4(IMPDH1):c.235G>C (p.Asp79His) rs1016744642
NM_000883.4(IMPDH1):c.242T>C (p.Leu81Pro)
NM_000883.4(IMPDH1):c.254+11T>A
NM_000883.4(IMPDH1):c.254+16C>T
NM_000883.4(IMPDH1):c.255-12dup
NM_000883.4(IMPDH1):c.255-15G>A
NM_000883.4(IMPDH1):c.255-17G>A
NM_000883.4(IMPDH1):c.255-18C>T
NM_000883.4(IMPDH1):c.258G>A (p.Met86Ile) rs1213210180
NM_000883.4(IMPDH1):c.260C>T (p.Ala87Val)
NM_000883.4(IMPDH1):c.264C>T (p.Asp88=)
NM_000883.4(IMPDH1):c.274A>G (p.Ser92Gly)
NM_000883.4(IMPDH1):c.282C>T (p.Gly94=)
NM_000883.4(IMPDH1):c.286G>T (p.Gly96Cys) rs1056167530
NM_000883.4(IMPDH1):c.291C>T (p.Tyr97=)
NM_000883.4(IMPDH1):c.294G>A (p.Val98=) rs1175195460
NM_000883.4(IMPDH1):c.296C>G (p.Pro99Arg)
NM_000883.4(IMPDH1):c.298G>A (p.Glu100Lys) rs2116717128
NM_000883.4(IMPDH1):c.312C>T (p.Thr104=)
NM_000883.4(IMPDH1):c.324C>G (p.Leu108=)
NM_000883.4(IMPDH1):c.328G>T (p.Ala110Ser)
NM_000883.4(IMPDH1):c.348C>T (p.Thr116=) rs1798688633
NM_000883.4(IMPDH1):c.351C>T (p.Tyr117=)
NM_000883.4(IMPDH1):c.352A>G (p.Asn118Asp)
NM_000883.4(IMPDH1):c.353+16C>T
NM_000883.4(IMPDH1):c.353+18T>C rs2116716065
NM_000883.4(IMPDH1):c.353+7G>A rs72624948
NM_000883.4(IMPDH1):c.353+7G>C rs72624948
NM_000883.4(IMPDH1):c.353+7G>T rs72624948
NM_000883.4(IMPDH1):c.354-10G>C
NM_000883.4(IMPDH1):c.354-12C>G rs907215906
NM_000883.4(IMPDH1):c.354-15T>A rs1798506598
NM_000883.4(IMPDH1):c.354-18_354-15del
NM_000883.4(IMPDH1):c.354-8C>T rs746274639
NM_000883.4(IMPDH1):c.355G>A (p.Asp119Asn)
NM_000883.4(IMPDH1):c.360C>T (p.Phe120=)
NM_000883.4(IMPDH1):c.379A>G (p.Ile127Val)
NM_000883.4(IMPDH1):c.382G>T (p.Asp128Tyr)
NM_000883.4(IMPDH1):c.395A>G (p.Asp132Gly)
NM_000883.4(IMPDH1):c.402+14C>T
NM_000883.4(IMPDH1):c.403-10C>G
NM_000883.4(IMPDH1):c.403-8dup rs2116670661
NM_000883.4(IMPDH1):c.420G>C (p.Leu140=)
NM_000883.4(IMPDH1):c.424C>A (p.Arg142=) rs376769056
NM_000883.4(IMPDH1):c.424C>T (p.Arg142Trp) rs376769056
NM_000883.4(IMPDH1):c.429G>A (p.Lys143=)
NM_000883.4(IMPDH1):c.434C>T (p.Thr145Met)
NM_000883.4(IMPDH1):c.437T>C (p.Leu146Pro) rs2116670061
NM_000883.4(IMPDH1):c.444G>T (p.Thr148=)
NM_000883.4(IMPDH1):c.445C>T (p.Pro149Ser)
NM_000883.4(IMPDH1):c.450G>A (p.Leu150=)
NM_000883.4(IMPDH1):c.453C>A (p.Ile151=)
NM_000883.4(IMPDH1):c.458C>T (p.Ser153Phe)
NM_000883.4(IMPDH1):c.460C>G (p.Pro154Ala) rs2116669210
NM_000883.4(IMPDH1):c.462C>T (p.Pro154=) rs761151140
NM_000883.4(IMPDH1):c.463A>G (p.Met155Val)
NM_000883.4(IMPDH1):c.465G>A (p.Met155Ile)
NM_000883.4(IMPDH1):c.482C>T (p.Ala161Val)
NM_000883.4(IMPDH1):c.484G>A (p.Asp162Asn) rs1798299290
NM_000883.4(IMPDH1):c.504+15T>C
NM_000883.4(IMPDH1):c.504+17C>T
NM_000883.4(IMPDH1):c.504+18A>G rs1256717626
NM_000883.4(IMPDH1):c.504+8A>G
NM_000883.4(IMPDH1):c.505-12dup
NM_000883.4(IMPDH1):c.505-13C>G
NM_000883.4(IMPDH1):c.505-5A>G rs1299869403
NM_000883.4(IMPDH1):c.505C>G (p.Leu169Val) rs1798287078
NM_000883.4(IMPDH1):c.507G>A (p.Leu169=)
NM_000883.4(IMPDH1):c.509T>C (p.Met170Thr)
NM_000883.4(IMPDH1):c.511G>A (p.Gly171Arg)
NM_000883.4(IMPDH1):c.527T>C (p.Ile176Thr) rs2116666495
NM_000883.4(IMPDH1):c.561C>G (p.Asn187Lys)
NM_000883.4(IMPDH1):c.564G>A (p.Glu188=) rs1798282215
NM_000883.4(IMPDH1):c.569G>T (p.Arg190Leu) rs777909017
NM_000883.4(IMPDH1):c.570G>A (p.Arg190=)
NM_000883.4(IMPDH1):c.579+11G>A
NM_000883.4(IMPDH1):c.579+9C>A
NM_000883.4(IMPDH1):c.580-15C>T rs746842871
NM_000883.4(IMPDH1):c.580-15dup rs780659161
NM_000883.4(IMPDH1):c.580-7C>T
NM_000883.4(IMPDH1):c.580-8G>T rs747980829
NM_000883.4(IMPDH1):c.582G>C (p.Lys194Asn) rs1042252
NM_000883.4(IMPDH1):c.603G>A (p.Thr201=)
NM_000883.4(IMPDH1):c.617T>C (p.Leu206Pro)
NM_000883.4(IMPDH1):c.620G>T (p.Ser207Ile)
NM_000883.4(IMPDH1):c.638G>T (p.Gly213Val) rs1562993531
NM_000883.4(IMPDH1):c.646C>T (p.Leu216=)
NM_000883.4(IMPDH1):c.662G>A (p.Arg221Gln)
NM_000883.4(IMPDH1):c.671T>C (p.Phe224Ser)
NM_000883.4(IMPDH1):c.698G>A (p.Gly233Asp)
NM_000883.4(IMPDH1):c.698G>C (p.Gly233Ala) rs1272549405
NM_000883.4(IMPDH1):c.704T>C (p.Met235Thr)
NM_000883.4(IMPDH1):c.706G>A (p.Gly236Ser)
NM_000883.4(IMPDH1):c.721G>A (p.Gly241Ser) rs932987662
NM_000883.4(IMPDH1):c.730A>C (p.Thr244Pro) rs1253235754
NM_000883.4(IMPDH1):c.736C>T (p.Arg246Ter)
NM_000883.4(IMPDH1):c.742A>G (p.Ile248Val) rs2116660156
NM_000883.4(IMPDH1):c.747C>T (p.Asp249=)
NM_000883.4(IMPDH1):c.786+15G>T
NM_000883.4(IMPDH1):c.786+18del rs1308576227
NM_000883.4(IMPDH1):c.786+3A>G
NM_000883.4(IMPDH1):c.786+4C>G
NM_000883.4(IMPDH1):c.786+9A>G rs2116659373
NM_000883.4(IMPDH1):c.787-10G>T rs1387730501
NM_000883.4(IMPDH1):c.787-12C>T
NM_000883.4(IMPDH1):c.787-3C>G
NM_000883.4(IMPDH1):c.809T>C (p.Leu270Pro)
NM_000883.4(IMPDH1):c.810G>A (p.Leu270=) rs763817074
NM_000883.4(IMPDH1):c.814G>A (p.Val272Met)
NM_000883.4(IMPDH1):c.820C>A (p.Pro274Thr)
NM_000883.4(IMPDH1):c.834G>A (p.Thr278=)
NM_000883.4(IMPDH1):c.837G>T (p.Leu279Phe)
NM_000883.4(IMPDH1):c.847A>C (p.Asn283His)
NM_000883.4(IMPDH1):c.849T>A (p.Asn283Lys) rs121912554
NM_000883.4(IMPDH1):c.855C>T (p.Ile285=)
NM_000883.4(IMPDH1):c.857T>C (p.Leu286Pro) rs2116656729
NM_000883.4(IMPDH1):c.859C>T (p.Gln287Ter)
NM_000883.4(IMPDH1):c.874+16T>A
NM_000883.4(IMPDH1):c.874+16T>C
NM_000883.4(IMPDH1):c.875-12A>G
NM_000883.4(IMPDH1):c.875-13C>G
NM_000883.4(IMPDH1):c.875-18C>G
NM_000883.4(IMPDH1):c.882G>C (p.Leu294=)
NM_000883.4(IMPDH1):c.889G>A (p.Val297Ile)
NM_000883.4(IMPDH1):c.902A>G (p.Asp301Gly) rs2116640368
NM_000883.4(IMPDH1):c.922G>A (p.Ala308Thr) rs1798092833
NM_000883.4(IMPDH1):c.925C>T (p.Arg309Cys)
NM_000883.4(IMPDH1):c.931G>A (p.Asp311Asn) rs121912550
NM_000883.4(IMPDH1):c.932A>G (p.Asp311Gly) rs1798091523
NM_000883.4(IMPDH1):c.932A>T (p.Asp311Val)
NM_000883.4(IMPDH1):c.935T>C (p.Leu312Pro)
NM_000883.4(IMPDH1):c.936GAA[2] (p.Lys314del) rs1554414710
NM_000883.4(IMPDH1):c.942_943delinsCC (p.Lys314_Asn315delinsAsnHis)
NM_000883.4(IMPDH1):c.951C>T (p.Asp317=)
NM_000883.4(IMPDH1):c.962C>T (p.Ala321Val) rs1584728088
NM_000883.4(IMPDH1):c.967A>G (p.Lys323Glu) rs1562989913
NM_000883.4(IMPDH1):c.968A>G (p.Lys323Arg) rs1798086782
NM_000883.4(IMPDH1):c.969G>T (p.Lys323Asn) rs761583072
NM_000883.4(IMPDH1):c.974C>T (p.Ser325Phe)
NM_000883.4(IMPDH1):c.984G>T (p.Gln328His) rs886037911
NM_000883.4(IMPDH1):c.985C>T (p.Leu329=)
NM_000883.4(IMPDH1):c.987G>A (p.Leu329=) rs2288550
NM_000883.4(IMPDH1):c.987_988delinsCG (p.Leu330Val)
NM_000883.4(IMPDH1):c.992G>C (p.Cys331Ser) rs2116638888

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