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

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		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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