ClinVar Miner

List of variants in gene PROM1 reported as uncertain significance

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 551
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006017.3(PROM1):c.1751A>G (p.His584Arg) rs140027620 0.00608
NM_006017.3(PROM1):c.1911+14G>A rs79077926 0.00565
NM_006017.3(PROM1):c.1683-3C>T rs143470288 0.00518
NM_006017.3(PROM1):c.*684C>T rs140362696 0.00496
NM_006017.3(PROM1):c.1497C>T (p.Ile499=) rs113895168 0.00322
NM_006017.3(PROM1):c.1977C>T (p.Asn659=) rs149028760 0.00222
NM_006017.3(PROM1):c.-25T>A rs149845694 0.00194
NM_006017.3(PROM1):c.1579-6T>C rs181261277 0.00190
NM_006017.3(PROM1):c.1345G>A (p.Val449Met) rs200620291 0.00152
NM_006017.3(PROM1):c.2211+7C>T rs372262346 0.00150
NM_006017.3(PROM1):c.868A>C (p.Ser290Arg) rs182096110 0.00128
NM_006017.3(PROM1):c.103G>C (p.Glu35Gln) rs200290535 0.00095
NM_006017.3(PROM1):c.134A>G (p.Asp45Gly) rs201559220 0.00095
NM_006017.3(PROM1):c.714A>G (p.Gly238=) rs201662148 0.00088
NM_006017.3(PROM1):c.*1149A>G rs543722299 0.00083
NM_006017.3(PROM1):c.1491G>T (p.Leu497Phe) rs200520976 0.00070
NM_006017.3(PROM1):c.1469G>A (p.Ser490Asn) rs201027172 0.00069
NM_006017.3(PROM1):c.*189A>G rs537324748 0.00068
NM_006017.3(PROM1):c.1610A>G (p.Asp537Gly) rs200545555 0.00065
NM_006017.3(PROM1):c.1928C>G (p.Ala643Gly) rs62617075 0.00065
NM_006017.3(PROM1):c.2284A>G (p.Ser762Gly) rs202029748 0.00058
NM_006017.3(PROM1):c.914C>T (p.Pro305Leu) rs142245630 0.00048
NM_006017.3(PROM1):c.-168G>A rs180926533 0.00037
NM_006017.3(PROM1):c.2112C>T (p.Arg704=) rs375358457 0.00036
NM_006017.3(PROM1):c.1911+8G>A rs370302107 0.00033
NM_006017.3(PROM1):c.1151G>C (p.Arg384Thr) rs200907523 0.00029
NM_006017.3(PROM1):c.1196G>A (p.Arg399His) rs201690959 0.00027
NM_006017.3(PROM1):c.604C>G (p.Arg202Gly) rs140872693 0.00026
NM_006017.3(PROM1):c.963G>T (p.Leu321Phe) rs202041422 0.00026
NM_006017.3(PROM1):c.1925C>T (p.Pro642Leu) rs555436815 0.00025
NM_006017.3(PROM1):c.1780A>C (p.Ile594Leu) rs200507858 0.00022
NM_006017.3(PROM1):c.2271C>T (p.Ile757=) rs375986111 0.00022
NM_006017.3(PROM1):c.181A>G (p.Ile61Val) rs201701647 0.00021
NM_006017.3(PROM1):c.678G>A (p.Ala226=) rs187116049 0.00020
NM_006017.3(PROM1):c.1945T>C (p.Ser649Pro) rs199641781 0.00019
NM_006017.3(PROM1):c.524A>G (p.Tyr175Cys) rs144688616 0.00019
NM_006017.3(PROM1):c.843C>T (p.His281=) rs374394451 0.00019
NM_006017.3(PROM1):c.1279T>C (p.Leu427=) rs200710798 0.00016
NM_006017.3(PROM1):c.1378G>A (p.Val460Met) rs200142945 0.00016
NM_006017.3(PROM1):c.2590C>T (p.Gln864Ter) rs566891826 0.00015
NM_006017.3(PROM1):c.789C>G (p.Ile263Met) rs150322691 0.00014
NM_006017.3(PROM1):c.2236A>C (p.Ile746Leu) rs370133548 0.00011
NM_006017.3(PROM1):c.2490-2A>G rs375813885 0.00011
NM_006017.3(PROM1):c.556C>T (p.Arg186Trp) rs369512467 0.00011
NM_006017.3(PROM1):c.731G>A (p.Arg244Gln) rs369815021 0.00011
NM_006017.3(PROM1):c.-127A>G rs886059206 0.00010
NM_006017.3(PROM1):c.1577G>A (p.Arg526Gln) rs201692179 0.00010
NM_006017.3(PROM1):c.2485G>A (p.Asp829Asn) rs146434364 0.00010
NM_006017.3(PROM1):c.1454+4A>G rs749377148 0.00009
NM_006017.3(PROM1):c.2319C>T (p.Thr773=) rs185335345 0.00009
NM_006017.3(PROM1):c.2471C>T (p.Ser824Leu) rs575302651 0.00009
NM_006017.3(PROM1):c.376G>A (p.Val126Met) rs199556426 0.00009
NM_006017.3(PROM1):c.572G>A (p.Arg191Gln) rs753389458 0.00009
NM_006017.3(PROM1):c.1276dup (p.Thr426fs) rs747800874 0.00008
NM_006017.3(PROM1):c.1533G>A (p.Val511=) rs750722705 0.00008
NM_006017.3(PROM1):c.307G>T (p.Val103Phe) rs376610073 0.00008
NM_006017.3(PROM1):c.321A>C (p.Ala107=) rs371975235 0.00008
NM_006017.3(PROM1):c.335G>A (p.Cys112Tyr) rs111804339 0.00008
NM_006017.3(PROM1):c.383A>G (p.Tyr128Cys) rs113266999 0.00008
NM_006017.3(PROM1):c.85C>T (p.Pro29Ser) rs199533391 0.00008
NM_006017.3(PROM1):c.1576C>T (p.Arg526Trp) rs201870277 0.00007
NM_006017.3(PROM1):c.717C>T (p.Gly239=) rs763697898 0.00007
NM_006017.3(PROM1):c.*580T>A rs1250583925 0.00006
NM_006017.3(PROM1):c.1301+3G>A rs373623517 0.00006
NM_006017.3(PROM1):c.1339C>G (p.Leu447Val) rs1277076300 0.00006
NM_006017.3(PROM1):c.149G>A (p.Gly50Glu) rs772579915 0.00006
NM_006017.3(PROM1):c.1559C>T (p.Thr520Met) rs371416551 0.00006
NM_006017.3(PROM1):c.1927G>A (p.Ala643Thr) rs748475864 0.00006
NM_006017.3(PROM1):c.2049A>T (p.Gln683His) rs759432430 0.00006
NM_006017.3(PROM1):c.2095G>A (p.Val699Ile) rs1271770492 0.00006
NM_006017.3(PROM1):c.2555A>G (p.Tyr852Cys) rs772737866 0.00006
NM_006017.3(PROM1):c.277-15C>T rs372599685 0.00006
NM_006017.3(PROM1):c.848A>G (p.Gln283Arg) rs371887194 0.00006
NM_006017.3(PROM1):c.1152G>C (p.Arg384Ser) rs201748228 0.00005
NM_006017.3(PROM1):c.1344C>T (p.Ile448=) rs147174580 0.00005
NM_006017.3(PROM1):c.2340T>G (p.Asp780Glu) rs368089869 0.00005
NM_006017.3(PROM1):c.2582+9A>C rs200033458 0.00005
NM_006017.3(PROM1):c.718G>A (p.Gly240Arg) rs752543587 0.00005
NM_006017.3(PROM1):c.*1052G>A rs577484119 0.00004
NM_006017.3(PROM1):c.*1070A>G rs886059195 0.00004
NM_006017.3(PROM1):c.1090C>T (p.Leu364Phe) rs201706973 0.00004
NM_006017.3(PROM1):c.1195C>T (p.Arg399Cys) rs770268627 0.00004
NM_006017.3(PROM1):c.1199T>C (p.Leu400Pro) rs140682455 0.00004
NM_006017.3(PROM1):c.1407G>A (p.Pro469=) rs763710252 0.00004
NM_006017.3(PROM1):c.1525G>A (p.Ala509Thr) rs367572856 0.00004
NM_006017.3(PROM1):c.155T>C (p.Ile52Thr) rs778896066 0.00004
NM_006017.3(PROM1):c.1579-12A>C rs370183490 0.00004
NM_006017.3(PROM1):c.1632G>T (p.Gly544=) rs753308387 0.00004
NM_006017.3(PROM1):c.2364C>T (p.Ile788=) rs551849678 0.00004
NM_006017.3(PROM1):c.2408T>C (p.Val803Ala) rs757702736 0.00004
NM_006017.3(PROM1):c.2596T>G (p.Ter866Gly) rs778935197 0.00004
NM_006017.3(PROM1):c.1003-6T>G rs398124215 0.00003
NM_006017.3(PROM1):c.116C>A (p.Thr39Lys) rs371982287 0.00003
NM_006017.3(PROM1):c.1301+10T>A rs192338518 0.00003
NM_006017.3(PROM1):c.1301+11C>A rs189953160 0.00003
NM_006017.3(PROM1):c.1405C>A (p.Pro469Thr) rs751216717 0.00003
NM_006017.3(PROM1):c.1450A>G (p.Met484Val) rs574974703 0.00003
NM_006017.3(PROM1):c.179A>G (p.His60Arg) rs186676979 0.00003
NM_006017.3(PROM1):c.1946C>T (p.Ser649Leu) rs761911901 0.00003
NM_006017.3(PROM1):c.1960C>G (p.Leu654Val) rs775428045 0.00003
NM_006017.3(PROM1):c.2198C>T (p.Ser733Phe) rs767318720 0.00003
NM_006017.3(PROM1):c.232A>C (p.Lys78Gln) rs757074285 0.00003
NM_006017.3(PROM1):c.2446G>C (p.Ala816Pro) rs368515078 0.00003
NM_006017.3(PROM1):c.276+15G>T rs766012920 0.00003
NM_006017.3(PROM1):c.533T>C (p.Val178Ala) rs780577834 0.00003
NM_006017.3(PROM1):c.10G>A (p.Val4Ile) rs369512916 0.00002
NM_006017.3(PROM1):c.1238T>A (p.Val413Asp) rs563415711 0.00002
NM_006017.3(PROM1):c.124G>A (p.Glu42Lys) rs762631402 0.00002
NM_006017.3(PROM1):c.1276A>G (p.Thr426Ala) rs760172617 0.00002
NM_006017.3(PROM1):c.1300T>C (p.Trp434Arg) rs761560893 0.00002
NM_006017.3(PROM1):c.1377C>T (p.Gly459=) rs779072238 0.00002
NM_006017.3(PROM1):c.1384G>A (p.Gly462Ser) rs779901241 0.00002
NM_006017.3(PROM1):c.1406C>T (p.Pro469Leu) rs1292254467 0.00002
NM_006017.3(PROM1):c.1468A>T (p.Ser490Cys) rs536622788 0.00002
NM_006017.3(PROM1):c.1660C>G (p.Leu554Val) rs1229297607 0.00002
NM_006017.3(PROM1):c.1712G>A (p.Gly571Asp) rs745648882 0.00002
NM_006017.3(PROM1):c.1834G>A (p.Ala612Thr) rs771046422 0.00002
NM_006017.3(PROM1):c.1954T>C (p.Tyr652His) rs768320190 0.00002
NM_006017.3(PROM1):c.1982T>C (p.Leu661Ser) rs372632641 0.00002
NM_006017.3(PROM1):c.199C>G (p.Gln67Glu) rs751460221 0.00002
NM_006017.3(PROM1):c.2111G>A (p.Arg704His) rs771239030 0.00002
NM_006017.3(PROM1):c.2272G>A (p.Glu758Lys) rs371004406 0.00002
NM_006017.3(PROM1):c.2435C>T (p.Ala812Val) rs371444761 0.00002
NM_006017.3(PROM1):c.2450A>G (p.Lys817Arg) rs1231060253 0.00002
NM_006017.3(PROM1):c.2521A>G (p.Asn841Asp) rs752489889 0.00002
NM_006017.3(PROM1):c.2578A>G (p.Thr860Ala) rs747844753 0.00002
NM_006017.3(PROM1):c.262A>T (p.Ile88Phe) rs754495780 0.00002
NM_006017.3(PROM1):c.268T>A (p.Tyr90Asn) rs1346916111 0.00002
NM_006017.3(PROM1):c.323G>A (p.Gly108Glu) rs771963436 0.00002
NM_006017.3(PROM1):c.557G>A (p.Arg186Gln) rs542759235 0.00002
NM_006017.3(PROM1):c.645A>G (p.Ile215Met) rs770248840 0.00002
NM_006017.3(PROM1):c.661A>C (p.Thr221Pro) rs532183630 0.00002
NM_006017.3(PROM1):c.694+4A>T rs375952708 0.00002
NM_006017.3(PROM1):c.792G>A (p.Lys264=) rs776605111 0.00002
NM_006017.3(PROM1):c.806C>T (p.Ala269Val) rs770901015 0.00002
NM_006017.3(PROM1):c.83C>A (p.Ala28Asp) rs200267954 0.00002
NM_006017.3(PROM1):c.896G>A (p.Arg299Gln) rs748149698 0.00002
NM_006017.3(PROM1):c.*198T>C rs1713762475 0.00001
NM_006017.3(PROM1):c.*681C>G rs947805890 0.00001
NM_006017.3(PROM1):c.*781G>A rs1713636052 0.00001
NM_006017.3(PROM1):c.*963A>G rs886059196 0.00001
NM_006017.3(PROM1):c.*985C>G rs937617123 0.00001
NM_006017.3(PROM1):c.-148G>A rs75531222 0.00001
NM_006017.3(PROM1):c.1002+5G>A rs1196489060 0.00001
NM_006017.3(PROM1):c.1002+6C>T rs1338456600 0.00001
NM_006017.3(PROM1):c.1022A>G (p.Glu341Gly) rs977371695 0.00001
NM_006017.3(PROM1):c.1033G>A (p.Val345Ile) rs911295313 0.00001
NM_006017.3(PROM1):c.1042G>A (p.Val348Ile) rs542468979 0.00001
NM_006017.3(PROM1):c.1077+3A>T rs1239478035 0.00001
NM_006017.3(PROM1):c.1077G>T (p.Gln359His) rs1188471895 0.00001
NM_006017.3(PROM1):c.1105G>A (p.Asp369Asn) rs776022469 0.00001
NM_006017.3(PROM1):c.1127C>T (p.Thr376Met) rs746672684 0.00001
NM_006017.3(PROM1):c.1135G>A (p.Val379Ile) rs1329126414 0.00001
NM_006017.3(PROM1):c.1141+1G>A rs878853401 0.00001
NM_006017.3(PROM1):c.1147A>G (p.Lys383Glu) rs765104872 0.00001
NM_006017.3(PROM1):c.1163C>A (p.Ser388Tyr) rs267600054 0.00001
NM_006017.3(PROM1):c.1166T>C (p.Ile389Thr) rs760353791 0.00001
NM_006017.3(PROM1):c.1184A>G (p.Asn395Ser) rs749726796 0.00001
NM_006017.3(PROM1):c.1209_1229del (p.Gln403_Ser410delinsHis) rs777497868 0.00001
NM_006017.3(PROM1):c.1320C>T (p.Val440=) rs765602610 0.00001
NM_006017.3(PROM1):c.1327T>C (p.Ser443Pro) rs1725583230 0.00001
NM_006017.3(PROM1):c.132A>T (p.Gln44His) rs1743832907 0.00001
NM_006017.3(PROM1):c.1385G>T (p.Gly462Val) rs1209718198 0.00001
NM_006017.3(PROM1):c.1387T>C (p.Tyr463His) rs1297490531 0.00001
NM_006017.3(PROM1):c.1435G>A (p.Gly479Arg) rs774504919 0.00001
NM_006017.3(PROM1):c.1486A>G (p.Ile496Val) rs776578619 0.00001
NM_006017.3(PROM1):c.152C>T (p.Pro51Leu) rs1174298048 0.00001
NM_006017.3(PROM1):c.1569A>C (p.Glu523Asp) rs769133658 0.00001
NM_006017.3(PROM1):c.1578+9G>C rs747638667 0.00001
NM_006017.3(PROM1):c.1579-1G>C rs372513650 0.00001
NM_006017.3(PROM1):c.1615G>A (p.Glu539Lys) rs540003024 0.00001
NM_006017.3(PROM1):c.1616A>T (p.Glu539Val) rs866140263 0.00001
NM_006017.3(PROM1):c.1651A>G (p.Lys551Glu) rs760815481 0.00001
NM_006017.3(PROM1):c.1697A>T (p.Asn566Ile) rs376676164 0.00001
NM_006017.3(PROM1):c.1710C>T (p.Tyr570=) rs201644238 0.00001
NM_006017.3(PROM1):c.1711G>A (p.Gly571Ser) rs953440200 0.00001
NM_006017.3(PROM1):c.1717C>T (p.Leu573Phe) rs886059201 0.00001
NM_006017.3(PROM1):c.1730A>G (p.Asn577Ser) rs1448174401 0.00001
NM_006017.3(PROM1):c.1738A>C (p.Asn580His) rs199674847 0.00001
NM_006017.3(PROM1):c.1739A>G (p.Asn580Ser) rs1721701534 0.00001
NM_006017.3(PROM1):c.1746T>G (p.Ser582Arg) rs781323323 0.00001
NM_006017.3(PROM1):c.1778G>A (p.Ser593Asn) rs1371269052 0.00001
NM_006017.3(PROM1):c.1856A>G (p.Gln619Arg) rs905919709 0.00001
NM_006017.3(PROM1):c.1984C>A (p.Pro662Thr) rs1171955918 0.00001
NM_006017.3(PROM1):c.203C>T (p.Pro68Leu) rs374498717 0.00001
NM_006017.3(PROM1):c.205C>T (p.Arg69Cys) rs769617038 0.00001
NM_006017.3(PROM1):c.2062A>G (p.Ile688Val) rs760554830 0.00001
NM_006017.3(PROM1):c.2078G>A (p.Ser693Asn) rs773202851 0.00001
NM_006017.3(PROM1):c.2092A>G (p.Ser698Gly) rs1719817368 0.00001
NM_006017.3(PROM1):c.2099A>G (p.Lys700Arg) rs1433125980 0.00001
NM_006017.3(PROM1):c.2110C>T (p.Arg704Cys) rs1302809734 0.00001
NM_006017.3(PROM1):c.2213A>C (p.Glu738Ala) rs944223905 0.00001
NM_006017.3(PROM1):c.2281-3del rs1718769525 0.00001
NM_006017.3(PROM1):c.2296G>T (p.Ala766Ser) rs1468615991 0.00001
NM_006017.3(PROM1):c.2300C>T (p.Ser767Leu) rs369831677 0.00001
NM_006017.3(PROM1):c.2309C>A (p.Pro770His) rs568361529 0.00001
NM_006017.3(PROM1):c.2327A>T (p.Asp776Val) rs1033920857 0.00001
NM_006017.3(PROM1):c.2384G>T (p.Trp795Leu) rs1270591286 0.00001
NM_006017.3(PROM1):c.2387T>A (p.Phe796Tyr) rs376134203 0.00001
NM_006017.3(PROM1):c.2397A>G (p.Gly799=) rs931618095 0.00001
NM_006017.3(PROM1):c.2421G>A (p.Pro807=) rs1168993426 0.00001
NM_006017.3(PROM1):c.245A>G (p.Lys82Arg) rs953508617 0.00001
NM_006017.3(PROM1):c.247G>A (p.Ala83Thr) rs200528560 0.00001
NM_006017.3(PROM1):c.2551G>A (p.Val851Ile) rs201910962 0.00001
NM_006017.3(PROM1):c.313T>C (p.Tyr105His) rs929586700 0.00001
NM_006017.3(PROM1):c.314A>G (p.Tyr105Cys) rs570279948 0.00001
NM_006017.3(PROM1):c.356T>G (p.Phe119Cys) rs758752833 0.00001
NM_006017.3(PROM1):c.361A>T (p.Ile121Phe) rs765642019 0.00001
NM_006017.3(PROM1):c.370C>G (p.Pro124Ala) rs766545681 0.00001
NM_006017.3(PROM1):c.400C>T (p.Arg134Cys) rs768526003 0.00001
NM_006017.3(PROM1):c.401G>A (p.Arg134His) rs749128711 0.00001
NM_006017.3(PROM1):c.505A>G (p.Ile169Val) rs761899407 0.00001
NM_006017.3(PROM1):c.522C>G (p.Phe174Leu) rs1479926378 0.00001
NM_006017.3(PROM1):c.559A>G (p.Ile187Val) rs376885208 0.00001
NM_006017.3(PROM1):c.605G>A (p.Arg202Gln) rs200352674 0.00001
NM_006017.3(PROM1):c.677C>T (p.Ala226Val) rs376198840 0.00001
NM_006017.3(PROM1):c.706G>A (p.Val236Met) rs536161084 0.00001
NM_006017.3(PROM1):c.743A>G (p.Asn248Ser) rs201268754 0.00001
NM_006017.3(PROM1):c.751C>G (p.Pro251Ala) rs768744555 0.00001
NM_006017.3(PROM1):c.895C>T (p.Arg299Trp) rs200809630 0.00001
NM_006017.3(PROM1):c.89A>G (p.Lys30Arg) rs767532343 0.00001
NM_006017.3(PROM1):c.908A>G (p.Asn303Ser) rs1205174347 0.00001
NM_006017.3(PROM1):c.970A>G (p.Ser324Gly) rs766654108 0.00001
NM_006017.3(PROM1):c.97A>G (p.Asn33Asp) rs761208782 0.00001
GRCh37/hg19 4p15.32(chr4:16042466-16135616)x1
NC_000004.11:g.(?_15972690)_(15972725_?)dup
NC_000004.11:g.(?_15985866)_(15989359_?)del
NC_000004.11:g.(?_15987363)_(15989359_?)dup
NC_000004.11:g.(?_15993851)_(15994034_?)del
NC_000004.11:g.(?_16017769)_(16017883_?)del
NC_000004.12:g.(?_16016166)_(16075906_?)dup
NM_006017.3(PROM1):c.*107G>T rs1024479425
NM_006017.3(PROM1):c.*1143A>C rs544424652
NM_006017.3(PROM1):c.*1160A>G rs886059194
NM_006017.3(PROM1):c.*551A>T rs886059197
NM_006017.3(PROM1):c.*640T>A rs1713667197
NM_006017.3(PROM1):c.-37C>T rs776360269
NM_006017.3(PROM1):c.1002G>A (p.Gln334=) rs1275031408
NM_006017.3(PROM1):c.1010C>G (p.Pro337Arg)
NM_006017.3(PROM1):c.1012G>A (p.Val338Met)
NM_006017.3(PROM1):c.1027G>A (p.Asp343Asn)
NM_006017.3(PROM1):c.1030A>G (p.Asn344Asp) rs201244531
NM_006017.3(PROM1):c.1036A>G (p.Asn346Asp) rs1414948996
NM_006017.3(PROM1):c.1052C>T (p.Thr351Ile) rs2149291296
NM_006017.3(PROM1):c.105A>G (p.Glu35=) rs886059205
NM_006017.3(PROM1):c.1070T>A (p.Val357Asp) rs2149291244
NM_006017.3(PROM1):c.1074_1076dup (p.Gln359dup) rs2149291195
NM_006017.3(PROM1):c.1077+15A>G rs2149291022
NM_006017.3(PROM1):c.1078-3del
NM_006017.3(PROM1):c.1078G>A (p.Gly360Ser)
NM_006017.3(PROM1):c.1085A>G (p.Gln362Arg) rs2149273562
NM_006017.3(PROM1):c.1099A>G (p.Ile367Val)
NM_006017.3(PROM1):c.1108A>G (p.Arg370Gly)
NM_006017.3(PROM1):c.1118G>A (p.Arg373His)
NM_006017.3(PROM1):c.1136T>C (p.Val379Ala) rs752643119
NM_006017.3(PROM1):c.1139C>T (p.Ala380Val) rs1369542308
NM_006017.3(PROM1):c.1141+5G>C rs878853402
NM_006017.3(PROM1):c.1141G>A (p.Gly381Ser)
NM_006017.3(PROM1):c.1142G>A (p.Gly381Asp)
NM_006017.3(PROM1):c.1142G>T (p.Gly381Val)
NM_006017.3(PROM1):c.1150A>G (p.Arg384Gly) rs2149250384
NM_006017.3(PROM1):c.1154T>C (p.Val385Ala)
NM_006017.3(PROM1):c.1162T>C (p.Ser388Pro)
NM_006017.3(PROM1):c.1178T>G (p.Ile393Ser) rs773039992
NM_006017.3(PROM1):c.1179C>G (p.Ile393Met)
NM_006017.3(PROM1):c.1189A>C (p.Thr397Pro) rs2149250062
NM_006017.3(PROM1):c.1204A>C (p.Ile402Leu) rs1726218291
NM_006017.3(PROM1):c.1204A>G (p.Ile402Val) rs1726218291
NM_006017.3(PROM1):c.1210G>A (p.Asp404Asn)
NM_006017.3(PROM1):c.1215A>G (p.Ile405Met)
NM_006017.3(PROM1):c.1218C>G (p.Leu406=) rs886059203
NM_006017.3(PROM1):c.1229_1230del (p.Ser410fs) rs755657854
NM_006017.3(PROM1):c.1234T>C (p.Tyr412His)
NM_006017.3(PROM1):c.1234_1239del (p.Tyr412_Val413del) rs1726202525
NM_006017.3(PROM1):c.1258A>G (p.Ile420Val)
NM_006017.3(PROM1):c.1259T>C (p.Ile420Thr)
NM_006017.3(PROM1):c.1271T>C (p.Leu424Ser) rs886059202
NM_006017.3(PROM1):c.1272A>T (p.Leu424Phe) rs753768737
NM_006017.3(PROM1):c.1273C>T (p.Pro425Ser)
NM_006017.3(PROM1):c.1279T>A (p.Leu427Met) rs200710798
NM_006017.3(PROM1):c.1287G>C (p.Glu429Asp) rs2149249086
NM_006017.3(PROM1):c.1289A>C (p.Tyr430Ser) rs1324976779
NM_006017.3(PROM1):c.1309G>A (p.Gly437Ser) rs1725586921
NM_006017.3(PROM1):c.1337C>A (p.Thr446Asn) rs1346289528
NM_006017.3(PROM1):c.133G>A (p.Asp45Asn) rs2149586099
NM_006017.3(PROM1):c.1360C>G (p.Leu454Val)
NM_006017.3(PROM1):c.1363G>C (p.Gly455Arg)
NM_006017.3(PROM1):c.1373G>A (p.Cys458Tyr)
NM_006017.3(PROM1):c.1388A>G (p.Tyr463Cys)
NM_006017.3(PROM1):c.1403C>T (p.Thr468Ile)
NM_006017.3(PROM1):c.1407G>T (p.Pro469=)
NM_006017.3(PROM1):c.140A>G (p.His47Arg)
NM_006017.3(PROM1):c.1414_1415insTCC (p.Thr471_Arg472insLeu)
NM_006017.3(PROM1):c.1415G>A (p.Arg472Gln)
NM_006017.3(PROM1):c.1438G>A (p.Gly480Ser)
NM_006017.3(PROM1):c.1441G>T (p.Val481Phe) rs982634579
NM_006017.3(PROM1):c.1444T>G (p.Phe482Val)
NM_006017.3(PROM1):c.1455-4C>A rs1577944546
NM_006017.3(PROM1):c.1463_1466delinsC (p.Gly488_Leu489delinsAla) rs2149188387
NM_006017.3(PROM1):c.1474C>G (p.Leu492Val)
NM_006017.3(PROM1):c.1494G>C (p.Met498Ile)
NM_006017.3(PROM1):c.1495A>G (p.Ile499Val) rs1055784097
NM_006017.3(PROM1):c.1526C>A (p.Ala509Glu) rs2149187758
NM_006017.3(PROM1):c.1528A>T (p.Asn510Tyr) rs1723517670
NM_006017.3(PROM1):c.1537A>G (p.Lys513Glu)
NM_006017.3(PROM1):c.1545C>T (p.Ile515=)
NM_006017.3(PROM1):c.1555T>G (p.Tyr519Asp)
NM_006017.3(PROM1):c.1559C>G (p.Thr520Arg)
NM_006017.3(PROM1):c.1563C>A (p.Ser521Arg) rs919737536
NM_006017.3(PROM1):c.1564A>G (p.Lys522Glu)
NM_006017.3(PROM1):c.1572A>C (p.Leu524Phe)
NM_006017.3(PROM1):c.1576C>G (p.Arg526Gly) rs201870277
NM_006017.3(PROM1):c.1577G>T (p.Arg526Leu)
NM_006017.3(PROM1):c.1578G>A (p.Arg526=) rs1723490529
NM_006017.3(PROM1):c.1579-3T>C
NM_006017.3(PROM1):c.1579-3T>G rs1355865032
NM_006017.3(PROM1):c.1589C>T (p.Thr530Ile) rs1722873448
NM_006017.3(PROM1):c.158G>A (p.Gly53Asp) rs755064227
NM_006017.3(PROM1):c.1591C>T (p.Pro531Ser) rs768200385
NM_006017.3(PROM1):c.1599A>C (p.Leu533Phe)
NM_006017.3(PROM1):c.1603A>C (p.Asn535His) rs1577928508
NM_006017.3(PROM1):c.1605T>G (p.Asn535Lys)
NM_006017.3(PROM1):c.160A>G (p.Ile54Val)
NM_006017.3(PROM1):c.1611C>G (p.Asp537Glu) rs1722864414
NM_006017.3(PROM1):c.161T>C (p.Ile54Thr)
NM_006017.3(PROM1):c.1622A>G (p.Tyr541Cys)
NM_006017.3(PROM1):c.162T>G (p.Ile54Met)
NM_006017.3(PROM1):c.1655T>C (p.Met552Thr)
NM_006017.3(PROM1):c.1656G>A (p.Met552Ile) rs1722852636
NM_006017.3(PROM1):c.1663A>C (p.Thr555Pro) rs767236230
NM_006017.3(PROM1):c.1695A>C (p.Lys565Asn)
NM_006017.3(PROM1):c.1697A>G (p.Asn566Ser) rs376676164
NM_006017.3(PROM1):c.169G>A (p.Glu57Lys)
NM_006017.3(PROM1):c.16G>A (p.Gly6Ser)
NM_006017.3(PROM1):c.1705A>C (p.Thr569Pro) rs775023806
NM_006017.3(PROM1):c.1718T>A (p.Leu573His) rs748466005
NM_006017.3(PROM1):c.1745G>T (p.Ser582Ile)
NM_006017.3(PROM1):c.1748A>G (p.Glu583Gly)
NM_006017.3(PROM1):c.1760T>C (p.Ile587Thr) rs1721695203
NM_006017.3(PROM1):c.1767+3A>G
NM_006017.3(PROM1):c.1767G>A (p.Glu589=)
NM_006017.3(PROM1):c.1767G>T (p.Glu589Asp)
NM_006017.3(PROM1):c.1768-4G>T rs766013910
NM_006017.3(PROM1):c.1768C>T (p.His590Tyr) rs2149123828
NM_006017.3(PROM1):c.1784G>A (p.Ser595Asn) rs1721282660
NM_006017.3(PROM1):c.1789G>A (p.Glu597Lys) rs2149123669
NM_006017.3(PROM1):c.178C>T (p.His60Tyr)
NM_006017.3(PROM1):c.1796A>T (p.Glu599Val) rs1721280933
NM_006017.3(PROM1):c.1799G>T (p.Ser600Ile)
NM_006017.3(PROM1):c.1806G>A (p.Lys602=)
NM_006017.3(PROM1):c.1811A>G (p.Asn604Ser)
NM_006017.3(PROM1):c.1813C>G (p.Leu605Val)
NM_006017.3(PROM1):c.1820T>A (p.Ile607Asn)
NM_006017.3(PROM1):c.1827G>T (p.Leu609=)
NM_006017.3(PROM1):c.1834G>C (p.Ala612Pro) rs771046422
NM_006017.3(PROM1):c.1838C>T (p.Ala613Val)
NM_006017.3(PROM1):c.1849A>C (p.Asn617His) rs373833725
NM_006017.3(PROM1):c.1863T>G (p.Phe621Leu) rs1721260963
NM_006017.3(PROM1):c.1871G>A (p.Cys624Tyr) rs886059200
NM_006017.3(PROM1):c.1874G>T (p.Gly625Val)
NM_006017.3(PROM1):c.1877T>G (p.Ile626Arg)
NM_006017.3(PROM1):c.1882A>G (p.Arg628Gly)
NM_006017.3(PROM1):c.1901A>G (p.Tyr634Cys)
NM_006017.3(PROM1):c.1906G>T (p.Ala636Ser) rs2149122375
NM_006017.3(PROM1):c.1911+4T>C
NM_006017.3(PROM1):c.1922C>A (p.Ser641Tyr)
NM_006017.3(PROM1):c.1922C>T (p.Ser641Phe) rs2149113732
NM_006017.3(PROM1):c.1927G>T (p.Ala643Ser) rs748475864
NM_006017.3(PROM1):c.1931G>A (p.Gly644Glu)
NM_006017.3(PROM1):c.1939C>T (p.Leu647Phe) rs1383090074
NM_006017.3(PROM1):c.1951G>T (p.Ala651Ser)
NM_006017.3(PROM1):c.1954T>G (p.Tyr652Asp) rs768320190
NM_006017.3(PROM1):c.1965A>C (p.Glu655Asp)
NM_006017.3(PROM1):c.1966G>A (p.Ala656Thr)
NM_006017.3(PROM1):c.1970A>G (p.Lys657Arg)
NM_006017.3(PROM1):c.1983+5G>T rs1560421595
NM_006017.3(PROM1):c.2004C>A (p.Asn668Lys)
NM_006017.3(PROM1):c.2019T>A (p.Asp673Glu)
NM_006017.3(PROM1):c.2020G>A (p.Ala674Thr)
NM_006017.3(PROM1):c.2020G>T (p.Ala674Ser) rs775321230
NM_006017.3(PROM1):c.2021C>T (p.Ala674Val) rs1203615168
NM_006017.3(PROM1):c.2042A>G (p.His681Arg)
NM_006017.3(PROM1):c.2050C>G (p.Arg684Gly) rs530749007
NM_006017.3(PROM1):c.206G>A (p.Arg69His)
NM_006017.3(PROM1):c.2077-15T>C
NM_006017.3(PROM1):c.2080A>G (p.Thr694Ala)
NM_006017.3(PROM1):c.2086T>C (p.Tyr696His)
NM_006017.3(PROM1):c.2094C>A (p.Ser698Arg) rs199727800
NM_006017.3(PROM1):c.20C>T (p.Ser7Phe)
NM_006017.3(PROM1):c.2104C>G (p.Leu702Val) rs1183106670
NM_006017.3(PROM1):c.2113A>G (p.Thr705Ala)
NM_006017.3(PROM1):c.2130+3A>G
NM_006017.3(PROM1):c.2130G>A (p.Leu710=) rs1490681961
NM_006017.3(PROM1):c.2167G>A (p.Ala723Thr) rs755083222
NM_006017.3(PROM1):c.2167G>T (p.Ala723Ser)
NM_006017.3(PROM1):c.2181C>G (p.Ile727Met) rs1719302246
NM_006017.3(PROM1):c.2189A>G (p.Asn730Ser)
NM_006017.3(PROM1):c.2194T>A (p.Ser732Thr)
NM_006017.3(PROM1):c.220+6T>G rs2149585402
NM_006017.3(PROM1):c.2207T>C (p.Ile736Thr)
NM_006017.3(PROM1):c.221-1_223dup rs1734568558
NM_006017.3(PROM1):c.221-20T>G rs1018149966
NM_006017.3(PROM1):c.2211+6C>T rs1719282656
NM_006017.3(PROM1):c.2231G>C (p.Arg744Thr)
NM_006017.3(PROM1):c.2258A>G (p.Tyr753Cys) rs769950356
NM_006017.3(PROM1):c.2269A>T (p.Ile757Phe)
NM_006017.3(PROM1):c.2280+4A>T
NM_006017.3(PROM1):c.2281-5C>G rs777654968
NM_006017.3(PROM1):c.2281-7_2281-6delinsAG rs1718776025
NM_006017.3(PROM1):c.2281-8C>A
NM_006017.3(PROM1):c.2284A>C (p.Ser762Arg)
NM_006017.3(PROM1):c.2296G>A (p.Ala766Thr) rs1468615991
NM_006017.3(PROM1):c.2299T>A (p.Ser767Thr)
NM_006017.3(PROM1):c.2315C>T (p.Ala772Val)
NM_006017.3(PROM1):c.2320G>A (p.Ala774Thr) rs398124216
NM_006017.3(PROM1):c.2330C>T (p.Thr777Ile)
NM_006017.3(PROM1):c.2335G>A (p.Val779Ile)
NM_006017.3(PROM1):c.2351G>A (p.Cys784Tyr)
NM_006017.3(PROM1):c.2357A>G (p.Tyr786Cys)
NM_006017.3(PROM1):c.2373+13C>G rs886059199
NM_006017.3(PROM1):c.2373+5G>T rs2149067614
NM_006017.3(PROM1):c.2374-14dup rs370477050
NM_006017.3(PROM1):c.2374-4C>A
NM_006017.3(PROM1):c.2374-6delinsCC rs398124217
NM_006017.3(PROM1):c.2383T>C (p.Trp795Arg)
NM_006017.3(PROM1):c.238T>G (p.Leu80Val)
NM_006017.3(PROM1):c.2393T>C (p.Ile798Thr)
NM_006017.3(PROM1):c.2401G>A (p.Ala801Thr) rs1461675875
NM_006017.3(PROM1):c.2401G>T (p.Ala801Ser)
NM_006017.3(PROM1):c.2407G>T (p.Val803Leu)
NM_006017.3(PROM1):c.2415A>T (p.Leu805Phe) rs1717540258
NM_006017.3(PROM1):c.2419C>T (p.Pro807Ser)
NM_006017.3(PROM1):c.2453A>G (p.Tyr818Cys)
NM_006017.3(PROM1):c.2456A>G (p.Tyr819Cys)
NM_006017.3(PROM1):c.2458C>T (p.Arg820Cys) rs755446696
NM_006017.3(PROM1):c.2462G>A (p.Arg821Gln)
NM_006017.3(PROM1):c.2464A>G (p.Met822Val)
NM_006017.3(PROM1):c.2479G>A (p.Val827Met) rs866191488
NM_006017.3(PROM1):c.2480T>C (p.Val827Ala) rs886059198
NM_006017.3(PROM1):c.2489+8T>C rs1433533825
NM_006017.3(PROM1):c.2500A>G (p.Ile834Val)
NM_006017.3(PROM1):c.2501T>C (p.Ile834Thr)
NM_006017.3(PROM1):c.2508G>A (p.Met836Ile) rs534529507
NM_006017.3(PROM1):c.250T>A (p.Tyr84Asn) rs1734560540
NM_006017.3(PROM1):c.2513+3A>T rs1212167770
NM_006017.3(PROM1):c.2513+4A>C
NM_006017.3(PROM1):c.2513A>T (p.Asn838Ile)
NM_006017.3(PROM1):c.2514-4A>G rs1236769724
NM_006017.3(PROM1):c.2515A>G (p.Met839Val) rs2149032694
NM_006017.3(PROM1):c.2516T>C (p.Met839Thr) rs758726922
NM_006017.3(PROM1):c.2531A>G (p.Asn844Ser)
NM_006017.3(PROM1):c.2534G>C (p.Gly845Ala)
NM_006017.3(PROM1):c.2534G>T (p.Gly845Val)
NM_006017.3(PROM1):c.2537A>C (p.Tyr846Ser)
NM_006017.3(PROM1):c.2540A>G (p.His847Arg) rs1717178592
NM_006017.3(PROM1):c.2545G>A (p.Asp849Asn)
NM_006017.3(PROM1):c.2547T>A (p.Asp849Glu)
NM_006017.3(PROM1):c.2549A>G (p.His850Arg)
NM_006017.3(PROM1):c.2553A>G (p.Val851=)
NM_006017.3(PROM1):c.2572G>T (p.Val858Phe)
NM_006017.3(PROM1):c.2575A>G (p.Met859Val)
NM_006017.3(PROM1):c.2576T>A (p.Met859Lys) rs1241742160
NM_006017.3(PROM1):c.2579C>T (p.Thr860Ile)
NM_006017.3(PROM1):c.2584C>G (p.Pro862Ala)
NM_006017.3(PROM1):c.2593C>A (p.His865Asn) rs748272325
NM_006017.3(PROM1):c.260A>G (p.Lys87Arg)
NM_006017.3(PROM1):c.272A>G (p.Asp91Gly)
NM_006017.3(PROM1):c.295G>T (p.Gly99Cys)
NM_006017.3(PROM1):c.341T>A (p.Val114Asp)
NM_006017.3(PROM1):c.347G>T (p.Gly116Val)
NM_006017.3(PROM1):c.369G>A (p.Met123Ile)
NM_006017.3(PROM1):c.371C>T (p.Pro124Leu)
NM_006017.3(PROM1):c.380G>T (p.Gly127Val) rs1733212554
NM_006017.3(PROM1):c.389T>C (p.Phe130Ser) rs1560533404
NM_006017.3(PROM1):c.392G>T (p.Cys131Phe) rs773950219
NM_006017.3(PROM1):c.400C>G (p.Arg134Gly)
NM_006017.3(PROM1):c.401G>C (p.Arg134Pro) rs749128711
NM_006017.3(PROM1):c.406T>A (p.Cys136Ser) rs2149381800
NM_006017.3(PROM1):c.414A>T (p.Lys138Asn) rs971343108
NM_006017.3(PROM1):c.425A>G (p.Glu142Gly) rs1733199051
NM_006017.3(PROM1):c.429G>T (p.Met143Ile)
NM_006017.3(PROM1):c.42C>G (p.Cys14Trp)
NM_006017.3(PROM1):c.439C>G (p.Gln147Glu)
NM_006017.3(PROM1):c.43G>A (p.Gly15Arg)
NM_006017.3(PROM1):c.442A>G (p.Lys148Glu)
NM_006017.3(PROM1):c.449A>G (p.Asn150Ser) rs1733188880
NM_006017.3(PROM1):c.475G>A (p.Ala159Thr) rs1733179048
NM_006017.3(PROM1):c.478A>G (p.Ile160Val) rs902101079
NM_006017.3(PROM1):c.493A>G (p.Ile165Val)
NM_006017.3(PROM1):c.509+5G>A
NM_006017.3(PROM1):c.50C>A (p.Ser17Tyr) rs375970590
NM_006017.3(PROM1):c.510C>A (p.Ser170Arg)
NM_006017.3(PROM1):c.521T>C (p.Phe174Ser) rs1253500500
NM_006017.3(PROM1):c.532G>A (p.Val178Met) rs1340984327
NM_006017.3(PROM1):c.53T>C (p.Phe18Ser) rs1743853305
NM_006017.3(PROM1):c.554C>T (p.Thr185Ile)
NM_006017.3(PROM1):c.562A>G (p.Lys188Glu) rs1730955261
NM_006017.3(PROM1):c.599A>G (p.Asp200Gly) rs765051915
NM_006017.3(PROM1):c.59G>T (p.Gly20Val)
NM_006017.3(PROM1):c.605G>T (p.Arg202Leu) rs200352674
NM_006017.3(PROM1):c.614T>C (p.Leu205Ser)
NM_006017.3(PROM1):c.630G>A (p.Glu210=)
NM_006017.3(PROM1):c.631-10_631-8del
NM_006017.3(PROM1):c.631-2A>C
NM_006017.3(PROM1):c.649G>A (p.Ala217Thr)
NM_006017.3(PROM1):c.65A>G (p.Gln22Arg)
NM_006017.3(PROM1):c.660C>G (p.Asn220Lys)
NM_006017.3(PROM1):c.663T>C (p.Thr221=)
NM_006017.3(PROM1):c.671A>G (p.Asp224Gly)
NM_006017.3(PROM1):c.673A>C (p.Lys225Gln) rs2149336811
NM_006017.3(PROM1):c.676G>A (p.Ala226Thr)
NM_006017.3(PROM1):c.694+1G>A rs878853399
NM_006017.3(PROM1):c.694+3G>T
NM_006017.3(PROM1):c.695-11T>G rs2149332377
NM_006017.3(PROM1):c.695-6A>G rs898988422
NM_006017.3(PROM1):c.695G>T (p.Ser232Ile) rs370143425
NM_006017.3(PROM1):c.718G>T (p.Gly240Ter)
NM_006017.3(PROM1):c.719G>T (p.Gly240Val)
NM_006017.3(PROM1):c.728A>C (p.Asp243Ala) rs766737247
NM_006017.3(PROM1):c.731G>C (p.Arg244Pro)
NM_006017.3(PROM1):c.731G>T (p.Arg244Leu) rs369815021
NM_006017.3(PROM1):c.736A>G (p.Arg246Gly)
NM_006017.3(PROM1):c.749T>C (p.Ile250Thr)
NM_006017.3(PROM1):c.752C>T (p.Pro251Leu)
NM_006017.3(PROM1):c.76A>G (p.Thr26Ala)
NM_006017.3(PROM1):c.770A>G (p.Lys257Arg)
NM_006017.3(PROM1):c.772T>A (p.Ser258Thr)
NM_006017.3(PROM1):c.781A>G (p.Thr261Ala)
NM_006017.3(PROM1):c.782C>T (p.Thr261Ile)
NM_006017.3(PROM1):c.785-11T>G rs886059204
NM_006017.3(PROM1):c.818T>A (p.Met273Lys) rs752090916
NM_006017.3(PROM1):c.823A>G (p.Ser275Gly)
NM_006017.3(PROM1):c.835A>G (p.Ser279Gly) rs934667000
NM_006017.3(PROM1):c.83C>T (p.Ala28Val) rs200267954
NM_006017.3(PROM1):c.847C>A (p.Gln283Lys) rs1728983975
NM_006017.3(PROM1):c.859C>T (p.Leu287Phe)
NM_006017.3(PROM1):c.879C>A (p.Ser293Arg) rs148242593
NM_006017.3(PROM1):c.879C>T (p.Ser293=) rs148242593
NM_006017.3(PROM1):c.880G>A (p.Val294Met) rs777036344
NM_006017.3(PROM1):c.880G>C (p.Val294Leu)
NM_006017.3(PROM1):c.893T>A (p.Leu298Gln)
NM_006017.3(PROM1):c.904C>G (p.Leu302Val)
NM_006017.3(PROM1):c.910G>A (p.Asp304Asn)
NM_006017.3(PROM1):c.91G>C (p.Ala31Pro)
NM_006017.3(PROM1):c.935C>T (p.Ser312Leu)
NM_006017.3(PROM1):c.937A>G (p.Ser313Gly)
NM_006017.3(PROM1):c.950A>G (p.Asn317Ser) rs1728947654
NM_006017.3(PROM1):c.958A>G (p.Arg320Gly) rs1043647793
NM_006017.3(PROM1):c.96G>T (p.Trp32Cys) rs794726926
NM_006017.3(PROM1):c.971G>A (p.Ser324Asn) rs1728938088
NM_006017.3(PROM1):c.980A>G (p.Asn327Ser)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.