ClinVar Miner

List of variants in gene MPL reported as pathogenic for Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia

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Gene type:
ClinVar version:
Total variants: 96
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HGVS dbSNP gnomAD frequency
NM_005373.3(MPL):c.305G>C (p.Arg102Pro) rs28928907 0.00035
NM_005373.3(MPL):c.391+5G>C rs752453717 0.00012
NM_005373.3(MPL):c.769C>T (p.Arg257Cys) rs121913611 0.00011
NM_005373.3(MPL):c.304C>T (p.Arg102Cys) rs763568293 0.00006
NM_005373.3(MPL):c.235_236del (p.Leu79fs) rs587778514 0.00005
NM_005373.3(MPL):c.127C>T (p.Arg43Ter) rs148434485 0.00004
NM_005373.3(MPL):c.1621C>T (p.Gln541Ter) rs369156948 0.00004
NM_005373.3(MPL):c.1422G>A (p.Trp474Ter) rs754859909 0.00003
NM_005373.3(MPL):c.230del (p.Cys77fs) rs1291157023 0.00003
NM_005373.3(MPL):c.460T>C (p.Trp154Arg) rs758428763 0.00002
NM_005373.3(MPL):c.1042C>T (p.Gln348Ter) rs1355966040 0.00001
NM_005373.3(MPL):c.1069C>T (p.Arg357Ter) rs751975712 0.00001
NM_005373.3(MPL):c.1276C>T (p.Arg426Ter) rs753018650 0.00001
NM_005373.3(MPL):c.1431G>A (p.Trp477Ter) rs1169744090 0.00001
NM_005373.3(MPL):c.1774C>T (p.Arg592Ter) rs755447085 0.00001
NM_005373.3(MPL):c.605dup (p.Ala203fs) rs1441276119 0.00001
NC_000001.10:g.(?_43800988)_(43803797_?)del
NC_000001.10:g.(?_43803510)_(43806194_?)del
NC_000001.11:g.(?_43349253)_(43349369_?)del
NM_005373.3(MPL):c.1015A>T (p.Lys339Ter)
NM_005373.3(MPL):c.1025del (p.Pro342fs) rs1286303912
NM_005373.3(MPL):c.1033C>T (p.Gln345Ter)
NM_005373.3(MPL):c.1145del (p.Pro382fs)
NM_005373.3(MPL):c.1194G>A (p.Trp398Ter) rs1570470199
NM_005373.3(MPL):c.11G>A (p.Trp4Ter)
NM_005373.3(MPL):c.1219G>T (p.Glu407Ter) rs2153918764
NM_005373.3(MPL):c.1231C>T (p.Gln411Ter)
NM_005373.3(MPL):c.1247G>A (p.Trp416Ter) rs1647059649
NM_005373.3(MPL):c.1248G>A (p.Trp416Ter) rs2153918792
NM_005373.3(MPL):c.1263_1264del (p.Cys422fs) rs2153918800
NM_005373.3(MPL):c.1270C>T (p.Gln424Ter) rs1647060064
NM_005373.3(MPL):c.1305del (p.Asp434_Trp435insTer) rs2153918831
NM_005373.3(MPL):c.1316_1320del (p.Glu439fs) rs1292577132
NM_005373.3(MPL):c.1320del (p.Pro441fs)
NM_005373.3(MPL):c.1346dup (p.Glu450fs) rs2153919240
NM_005373.3(MPL):c.1348G>T (p.Glu450Ter) rs1647073222
NM_005373.3(MPL):c.1368_1369del (p.Tyr457fs)
NM_005373.3(MPL):c.1378C>T (p.Gln460Ter) rs1469739934
NM_005373.3(MPL):c.1430G>A (p.Trp477Ter)
NM_005373.3(MPL):c.1462G>T (p.Glu488Ter) rs1302209849
NM_005373.3(MPL):c.1463_1466dup (p.Ala490fs) rs2153919318
NM_005373.3(MPL):c.1474_1477dup (p.Ser493fs) rs1647077635
NM_005373.3(MPL):c.1489_1490del (p.Ala497fs) rs2153919403
NM_005373.3(MPL):c.1523dup (p.Leu510fs)
NM_005373.3(MPL):c.1532_1535del (p.Leu511fs) rs1332801952
NM_005373.3(MPL):c.1546C>T (p.Gln516Ter) rs2153919438
NM_005373.3(MPL):c.1563C>A (p.Tyr521Ter) rs1392072769
NM_005373.3(MPL):c.1653+1del rs755257605
NM_005373.3(MPL):c.1671dup (p.Asp558fs) rs1647100516
NM_005373.3(MPL):c.1678del (p.Cys560fs)
NM_005373.3(MPL):c.1684G>T (p.Glu562Ter)
NM_005373.3(MPL):c.1725dup (p.Glu576fs)
NM_005373.3(MPL):c.1745del (p.Leu582fs)
NM_005373.3(MPL):c.1748_1749del (p.Cys583fs)
NM_005373.3(MPL):c.1810dup (p.Leu604fs)
NM_005373.3(MPL):c.1814_1817del (p.Ser605fs) rs1402847914
NM_005373.3(MPL):c.189C>A (p.Tyr63Ter) rs1373623383
NM_005373.3(MPL):c.189C>G (p.Tyr63Ter) rs1373623383
NM_005373.3(MPL):c.1904C>T (p.Pro635Leu) rs121913612
NM_005373.3(MPL):c.190C>T (p.Gln64Ter) rs2153916273
NM_005373.3(MPL):c.209del (p.Pro70fs)
NM_005373.3(MPL):c.214G>T (p.Glu72Ter) rs1406715863
NM_005373.3(MPL):c.236del (p.Leu79fs)
NM_005373.3(MPL):c.252del (p.Met84fs) rs2153916450
NM_005373.3(MPL):c.268C>T (p.Arg90Ter) rs763144679
NM_005373.3(MPL):c.273C>A (p.Tyr91Ter) rs759361904
NM_005373.3(MPL):c.278_285dup (p.Pro96fs)
NM_005373.3(MPL):c.308del (p.Leu103fs) rs1361003749
NM_005373.3(MPL):c.311del (p.Phe104fs) rs2153916495
NM_005373.3(MPL):c.313_316del (p.Phe105fs) rs2153916498
NM_005373.3(MPL):c.317C>T (p.Pro106Leu) rs750046020
NM_005373.3(MPL):c.367C>T (p.Arg123Ter) rs1443655691
NM_005373.3(MPL):c.378del (p.Phe126fs) rs587778515
NM_005373.3(MPL):c.388_389del (p.Val130fs)
NM_005373.3(MPL):c.407C>T (p.Pro136Leu)
NM_005373.3(MPL):c.413del (p.Ile138fs) rs1343123940
NM_005373.3(MPL):c.417dup (p.Lys140fs)
NM_005373.3(MPL):c.432dup (p.Ser145fs)
NM_005373.3(MPL):c.455del (p.Ile152fs) rs1647014461
NM_005373.3(MPL):c.478G>T (p.Glu160Ter) rs768536266
NM_005373.3(MPL):c.582C>A (p.Cys194Ter)
NM_005373.3(MPL):c.603_606del (p.His201fs) rs1438181248
NM_005373.3(MPL):c.655dup (p.Gln219fs) rs1647016174
NM_005373.3(MPL):c.709G>T (p.Glu237Ter)
NM_005373.3(MPL):c.744_747dup (p.Asn250fs) rs587778518
NM_005373.3(MPL):c.793del (p.Leu265fs) rs1647020172
NM_005373.3(MPL):c.807G>A (p.Trp269Ter) rs1647020318
NM_005373.3(MPL):c.840del (p.Pro281fs)
NM_005373.3(MPL):c.842del (p.Pro281fs) rs2153917100
NM_005373.3(MPL):c.873C>A (p.Cys291Ter)
NM_005373.3(MPL):c.89T>A (p.Leu30Ter)
NM_005373.3(MPL):c.916C>T (p.Gln306Ter)
NM_005373.3(MPL):c.948C>A (p.Tyr316Ter)
NM_005373.3(MPL):c.94del (p.Ala32fs) rs2153916214
NM_005373.3(MPL):c.972_973del (p.Asp326fs) rs2153917276
NM_005373.3(MPL):c.972del (p.Arg325fs) rs770457041

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