ClinVar Miner

List of variants in gene MPL studied for Congenital amegakaryocytic thrombocytopenia

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Gene type:
ClinVar version:
Total variants: 192
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HGVS dbSNP gnomAD frequency
NM_005373.3(MPL):c.690A>G (p.Glu230=) rs16830693 0.05134
NM_005373.3(MPL):c.*662C>T rs1763698 0.02711
NM_005373.3(MPL):c.340G>A (p.Val114Met) rs12731981 0.02191
NM_005373.3(MPL):c.117G>T (p.Lys39Asn) rs17292650 0.01420
NM_005373.3(MPL):c.*1054G>A rs139528456 0.01153
NM_005373.3(MPL):c.543T>C (p.Gly181=) rs17572791 0.00819
NM_005373.3(MPL):c.*709C>T rs185654501 0.00766
NM_005373.3(MPL):c.1309-10C>T rs139486615 0.00602
NM_005373.3(MPL):c.*601C>T rs527941032 0.00524
NM_005373.3(MPL):c.1565+5C>T rs41269541 0.00488
NM_005373.3(MPL):c.210G>A (p.Pro70=) rs6086 0.00482
NM_005373.3(MPL):c.1653+3G>A rs149625825 0.00367
NM_005373.3(MPL):c.*1506G>A rs115780311 0.00362
NM_005373.3(MPL):c.*364C>T rs138892634 0.00233
NM_005373.3(MPL):c.1654-10T>A rs200460456 0.00196
NM_005373.3(MPL):c.677C>A (p.Ser226Tyr) rs141063159 0.00183
NM_005373.3(MPL):c.*1603A>C rs142139493 0.00182
NM_005373.3(MPL):c.*1180G>A rs117166528 0.00181
NM_005373.3(MPL):c.*1116G>A rs144177827 0.00175
NM_005373.3(MPL):c.*914C>T rs186474263 0.00162
NM_005373.3(MPL):c.754T>C (p.Tyr252His) rs141311765 0.00124
NM_005373.3(MPL):c.*573G>A rs192016153 0.00093
NM_005373.3(MPL):c.*748C>T rs190071085 0.00087
NM_005373.3(MPL):c.1120A>G (p.Thr374Ala) rs190983971 0.00082
NM_005373.3(MPL):c.962G>A (p.Arg321Gln) rs149265851 0.00072
NM_005373.3(MPL):c.1003G>A (p.Glu335Lys) rs139770726 0.00059
NM_005373.3(MPL):c.1488C>T (p.Thr496=) rs140091584 0.00056
NM_005373.3(MPL):c.1570C>T (p.Leu524=) rs146372205 0.00055
NM_005373.3(MPL):c.793C>T (p.Leu265Phe) rs117656396 0.00053
NM_005373.3(MPL):c.1336G>A (p.Gly446Arg) rs561818288 0.00049
NM_005373.3(MPL):c.*657C>T rs886046352 0.00048
NM_005373.3(MPL):c.*871G>A rs540648773 0.00044
NM_005373.3(MPL):c.1197G>A (p.Arg399=) rs148945299 0.00042
NM_005373.3(MPL):c.*1112G>A rs543515941 0.00039
NM_005373.3(MPL):c.1102G>T (p.Val368Leu) rs149810307 0.00039
NM_005373.3(MPL):c.305G>C (p.Arg102Pro) rs28928907 0.00035
NM_005373.3(MPL):c.1536G>A (p.Leu512=) rs137990502 0.00031
NM_005373.3(MPL):c.*94C>A rs77858532 0.00027
NM_005373.3(MPL):c.1794C>T (p.Cys598=) rs143457144 0.00025
NM_005373.3(MPL):c.549G>A (p.Thr183=) rs147130173 0.00024
NM_005373.3(MPL):c.963G>T (p.Arg321=) rs138636505 0.00024
NM_005373.3(MPL):c.1666G>T (p.Val556Phe) rs150004498 0.00023
NM_005373.3(MPL):c.209C>T (p.Pro70Leu) rs61754776 0.00021
NM_005373.3(MPL):c.*1486T>C rs149940158 0.00020
NM_005373.3(MPL):c.79+2T>A rs146249964 0.00018
NM_005373.3(MPL):c.655C>G (p.Gln219Glu) rs142737453 0.00017
NM_005373.3(MPL):c.690+11C>T rs144769485 0.00012
NM_005373.3(MPL):c.*86C>T rs777930147 0.00011
NM_005373.3(MPL):c.769C>T (p.Arg257Cys) rs121913611 0.00011
NM_005373.3(MPL):c.*1674A>T rs536844021 0.00010
NM_005373.3(MPL):c.*970C>T rs777372120 0.00009
NM_005373.3(MPL):c.*971G>A rs886046355 0.00009
NM_005373.3(MPL):c.1467C>T (p.Thr489=) rs759161511 0.00009
NM_005373.3(MPL):c.1432T>A (p.Ser478Thr) rs781129632 0.00008
NM_005373.3(MPL):c.1650C>T (p.Ser550=) rs377715574 0.00008
NM_005373.3(MPL):c.318G>A (p.Pro106=) rs370001905 0.00007
NM_005373.3(MPL):c.*882C>T rs777894453 0.00006
NM_005373.3(MPL):c.1446G>A (p.Arg482=) rs1046680606 0.00006
NM_005373.3(MPL):c.304C>T (p.Arg102Cys) rs763568293 0.00006
NM_005373.3(MPL):c.622C>A (p.Gln208Lys) rs111460954 0.00006
NM_005373.3(MPL):c.1002C>T (p.Cys334=) rs141526418 0.00005
NM_005373.3(MPL):c.1051C>T (p.Arg351Cys) rs201998783 0.00005
NM_005373.3(MPL):c.173C>T (p.Ala58Val) rs6087 0.00005
NM_005373.3(MPL):c.235_236del (p.Leu79fs) rs587778514 0.00005
NM_005373.3(MPL):c.*204C>A rs938693392 0.00004
NM_005373.3(MPL):c.*400C>T rs558390922 0.00004
NM_005373.3(MPL):c.*612G>A rs1037571354 0.00004
NM_005373.3(MPL):c.127C>T (p.Arg43Ter) rs148434485 0.00004
NM_005373.3(MPL):c.1385G>C (p.Arg462Pro) rs1175548872 0.00004
NM_005373.3(MPL):c.1609C>T (p.Arg537Trp) rs148784027 0.00004
NM_005373.3(MPL):c.1629T>C (p.Leu543=) rs150816330 0.00004
NM_005373.3(MPL):c.548C>T (p.Thr183Met) rs137952228 0.00004
NM_005373.3(MPL):c.*578C>T rs565438629 0.00003
NM_005373.3(MPL):c.212G>A (p.Arg71Gln) rs368753117 0.00003
NM_005373.3(MPL):c.712G>T (p.Gly238Cys) rs144210383 0.00003
NM_005373.3(MPL):c.932C>T (p.Ser311Phe) rs776753502 0.00003
NM_005373.3(MPL):c.*255C>T rs1218431899 0.00002
NM_005373.3(MPL):c.*901G>A rs1267506501 0.00002
NM_005373.3(MPL):c.1134C>T (p.Tyr378=) rs749571171 0.00002
NM_005373.3(MPL):c.1645C>G (p.Leu549Val) rs746440317 0.00002
NM_005373.3(MPL):c.1744_1745del (p.Leu582fs) rs770402221 0.00002
NM_005373.3(MPL):c.*1021T>C rs1038231812 0.00001
NM_005373.3(MPL):c.*183G>A rs1228514763 0.00001
NM_005373.3(MPL):c.-13A>C rs746384923 0.00001
NM_005373.3(MPL):c.1069C>T (p.Arg357Ter) rs751975712 0.00001
NM_005373.3(MPL):c.1119T>C (p.Gly373=) rs748581599 0.00001
NM_005373.3(MPL):c.1178C>T (p.Thr393Ile) rs779132175 0.00001
NM_005373.3(MPL):c.1238C>T (p.Pro413Leu) rs886046350 0.00001
NM_005373.3(MPL):c.1309-1G>T rs1243113655 0.00001
NM_005373.3(MPL):c.1331C>A (p.Ala444Asp) rs886046351 0.00001
NM_005373.3(MPL):c.1337G>A (p.Gly446Glu) rs561724539 0.00001
NM_005373.3(MPL):c.1463A>G (p.Glu488Gly) rs1328988667 0.00001
NM_005373.3(MPL):c.1473G>A (p.Trp491Ter) rs121913613 0.00001
NM_005373.3(MPL):c.1544G>T (p.Trp515Leu) rs121913615 0.00001
NM_005373.3(MPL):c.185C>T (p.Thr62Ile) rs201727975 0.00001
NM_005373.3(MPL):c.237G>C (p.Leu79=) rs769101640 0.00001
NM_005373.3(MPL):c.273C>T (p.Tyr91=) rs759361904 0.00001
NM_005373.3(MPL):c.391G>A (p.Gly131Ser) rs775250202 0.00001
NM_005373.3(MPL):c.464A>T (p.Glu155Val) rs780341646 0.00001
NM_005373.3(MPL):c.641C>T (p.Pro214Leu) rs775165199 0.00001
NM_005373.3(MPL):c.854-3T>C rs201514537 0.00001
NM_005373.3(MPL):c.95C>T (p.Ala32Val) rs886046348 0.00001
NM_005373.3(MPL):c.981-1G>C rs769297582 0.00001
NC_000001.10:g.(43814674_43814933)_(43815031_43817886)del
NM_005373.3(MPL):c.*1126A>G rs543250497
NM_005373.3(MPL):c.*1216A>G rs886046356
NM_005373.3(MPL):c.*1220C>T rs6689207
NM_005373.3(MPL):c.*1351T>C rs886046357
NM_005373.3(MPL):c.*1506G>C rs115780311
NM_005373.3(MPL):c.*170G>A rs574563778
NM_005373.3(MPL):c.*326A>C rs1647104727
NM_005373.3(MPL):c.*701_*705dup rs752218261
NM_005373.3(MPL):c.*705del rs752218261
NM_005373.3(MPL):c.*725T>C rs1647108363
NM_005373.3(MPL):c.*924C>G rs886046354
NM_005373.3(MPL):c.1003G>T (p.Glu335Ter) rs139770726
NM_005373.3(MPL):c.1058del (p.His353fs)
NM_005373.3(MPL):c.1063A>G (p.Lys355Glu) rs546510242
NM_005373.3(MPL):c.1145_1146insAAGGATGTGAATAA (p.Pro382_Phe383insArgMetTer)
NM_005373.3(MPL):c.1145del (p.Pro382fs)
NM_005373.3(MPL):c.1192del (p.Trp398fs) rs1647059319
NM_005373.3(MPL):c.1270_1271del (p.Gln424fs)
NM_005373.3(MPL):c.1277G>C (p.Arg426Pro)
NM_005373.3(MPL):c.12G>A (p.Trp4Ter) rs1647004673
NM_005373.3(MPL):c.1303T>A (p.Trp435Arg) rs1553128241
NM_005373.3(MPL):c.1316_1320del (p.Glu439fs) rs1292577132
NM_005373.3(MPL):c.131C>T (p.Thr44Ile) rs772445486
NM_005373.3(MPL):c.1385_1389del (p.Arg462fs)
NM_005373.3(MPL):c.1437C>T (p.Asp479=) rs865799838
NM_005373.3(MPL):c.1468+1G>C rs2153919319
NM_005373.3(MPL):c.147_148insGTCTCTTATACACA (p.Cys50fs)
NM_005373.3(MPL):c.1499del (p.Leu500fs) rs1570472103
NM_005373.3(MPL):c.1527C>A (p.Gly509=) rs1570472144
NM_005373.3(MPL):c.155G>A (p.Trp52Ter)
NM_005373.3(MPL):c.1566-1G>T rs1570474015
NM_005373.3(MPL):c.1589C>T (p.Pro530Leu)
NM_005373.3(MPL):c.1653+1del rs755257605
NM_005373.3(MPL):c.1653+2T>C
NM_005373.3(MPL):c.1670C>A (p.Ser557Ter) rs2153920030
NM_005373.3(MPL):c.1671dup (p.Asp558fs) rs1647100516
NM_005373.3(MPL):c.189C>A (p.Tyr63Ter) rs1373623383
NM_005373.3(MPL):c.1904C>T (p.Pro635Leu) rs121913612
NM_005373.3(MPL):c.196C>T (p.Leu66=) rs886046349
NM_005373.3(MPL):c.205T>C (p.Tyr69His)
NM_005373.3(MPL):c.214G>T (p.Glu72Ter) rs1406715863
NM_005373.3(MPL):c.244C>T (p.Gln82Ter) rs1647009785
NM_005373.3(MPL):c.268C>T (p.Arg90Ter) rs763144679
NM_005373.3(MPL):c.269G>A (p.Arg90Gln) rs766638870
NM_005373.3(MPL):c.280C>T (p.Gln94Ter) rs1647010155
NM_005373.3(MPL):c.292C>T (p.Gln98Ter)
NM_005373.3(MPL):c.317C>T (p.Pro106Leu) rs750046020
NM_005373.3(MPL):c.351_352insTGTCTCTTATA (p.Gln118fs)
NM_005373.3(MPL):c.365_366delinsT (p.Gln122fs)
NM_005373.3(MPL):c.367C>T (p.Arg123Ter) rs1443655691
NM_005373.3(MPL):c.378del (p.Phe126fs) rs587778515
NM_005373.3(MPL):c.382G>T (p.Asp128Tyr)
NM_005373.3(MPL):c.397C>T (p.Pro133Ser)
NM_005373.3(MPL):c.398del (p.Pro133fs)
NM_005373.3(MPL):c.407C>G (p.Pro136Arg)
NM_005373.3(MPL):c.408C>G (p.Pro136=) rs146579984
NM_005373.3(MPL):c.408_409del (p.Ser137fs)
NM_005373.3(MPL):c.413del (p.Ile138fs) rs1343123940
NM_005373.3(MPL):c.442G>C (p.Gly148Arg) rs1647014391
NM_005373.3(MPL):c.45_46insTATAAGAGACA (p.Ala16fs)
NM_005373.3(MPL):c.461G>A (p.Trp154Ter) rs1647014537
NM_005373.3(MPL):c.475C>G (p.Pro159Ala) rs1647014633
NM_005373.3(MPL):c.49C>T (p.Pro17Ser) rs1647004869
NM_005373.3(MPL):c.509_526delinsACTGGT (p.Arg170_Pro176delinsHisTrpSer)
NM_005373.3(MPL):c.556C>T (p.Gln186Ter) rs121913610
NM_005373.3(MPL):c.56del (p.Asn19fs)
NM_005373.3(MPL):c.579C>A (p.Cys193Ter)
NM_005373.3(MPL):c.611C>T (p.Ser204Phe) rs1647015861
NM_005373.3(MPL):c.614C>T (p.Ala205Val)
NM_005373.3(MPL):c.678C>A (p.Ser226=) rs2153916873
NM_005373.3(MPL):c.680del (p.Pro227fs)
NM_005373.3(MPL):c.695C>A (p.Ser232Ter) rs1647019292
NM_005373.3(MPL):c.731C>A (p.Ser244Ter)
NM_005373.3(MPL):c.756C>A (p.Tyr252Ter) rs1647019645
NM_005373.3(MPL):c.757T>C (p.Trp253Arg)
NM_005373.3(MPL):c.758G>A (p.Trp253Ter) rs1647019692
NM_005373.3(MPL):c.761T>C (p.Leu254Pro)
NM_005373.3(MPL):c.763C>T (p.Gln255Ter) rs771519257
NM_005373.3(MPL):c.807G>A (p.Trp269Ter) rs1647020318
NM_005373.3(MPL):c.815G>A (p.Trp272Ter) rs760059307
NM_005373.3(MPL):c.823C>A (p.Pro275Thr) rs28928908
NM_005373.3(MPL):c.844G>A (p.Gly282Arg) rs878854770
NM_005373.3(MPL):c.862_864delinsT (p.Gly288fs)
NM_005373.3(MPL):c.972del (p.Arg325fs) rs770457041
NM_005373.3(MPL):c.973A>T (p.Arg325Ter)
NM_005373.3(MPL):c.988A>T (p.Ile330Phe) rs1647056598
NM_005373.3(MPL):c.98C>A (p.Ser33Ter) rs1228227826
NM_005373.3(MPL):c.992G>A (p.Trp331Ter)

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