ClinVar Miner

List of variants in gene MPL reported as likely pathogenic for Congenital amegakaryocytic thrombocytopenia

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 52
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005373.3(MPL):c.340G>A (p.Val114Met) rs12731981 0.02191
NM_005373.3(MPL):c.305G>C (p.Arg102Pro) rs28928907 0.00035
NM_005373.3(MPL):c.79+2T>A rs146249964 0.00018
NM_005373.3(MPL):c.304C>T (p.Arg102Cys) rs763568293 0.00006
NM_005373.3(MPL):c.1309-1G>T rs1243113655 0.00001
NM_005373.3(MPL):c.1653+2T>C rs1257156248 0.00001
NM_005373.3(MPL):c.1671dup (p.Asp558fs) rs1647100516 0.00001
NM_005373.3(MPL):c.1744_1745del (p.Leu582fs) rs770402221 0.00001
NM_005373.3(MPL):c.317C>T (p.Pro106Leu) rs750046020 0.00001
NM_005373.3(MPL):c.391G>A (p.Gly131Ser) rs775250202 0.00001
NM_005373.3(MPL):c.981-1G>C rs769297582 0.00001
NM_005373.3(MPL):c.1003G>T (p.Glu335Ter) rs139770726
NM_005373.3(MPL):c.1058del (p.His353fs) rs2545682548
NM_005373.3(MPL):c.1145_1146insAAGGATGTGAATAA (p.Pro382_Phe383insArgMetTer) rs2545682776
NM_005373.3(MPL):c.1145del (p.Pro382fs) rs759135440
NM_005373.3(MPL):c.1192del (p.Trp398fs) rs1647059319
NM_005373.3(MPL):c.1270_1271del (p.Gln424fs) rs2545683255
NM_005373.3(MPL):c.1303T>A (p.Trp435Arg) rs1553128241
NM_005373.3(MPL):c.1385_1389del (p.Arg462fs) rs2545685014
NM_005373.3(MPL):c.147_148insGTCTCTTATACACA (p.Cys50fs) rs2545673738
NM_005373.3(MPL):c.155G>A (p.Trp52Ter) rs2545673744
NM_005373.3(MPL):c.1589C>T (p.Pro530Leu) rs775704066
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.214G>T (p.Glu72Ter) rs1406715863
NM_005373.3(MPL):c.244C>T (p.Gln82Ter) rs1647009785
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) rs752682807
NM_005373.3(MPL):c.351_352insTGTCTCTTATA (p.Gln118fs) rs2545674741
NM_005373.3(MPL):c.365_366delinsT (p.Gln122fs) rs2545674772
NM_005373.3(MPL):c.398del (p.Pro133fs) rs2545675638
NM_005373.3(MPL):c.407C>G (p.Pro136Arg) rs764904424
NM_005373.3(MPL):c.408_409del (p.Ser137fs) rs2545675665
NM_005373.3(MPL):c.413del (p.Ile138fs) rs1343123940
NM_005373.3(MPL):c.45_46insTATAAGAGACA (p.Ala16fs) rs2545673204
NM_005373.3(MPL):c.461G>A (p.Trp154Ter) rs1647014537
NM_005373.3(MPL):c.56del (p.Asn19fs) rs2153916116
NM_005373.3(MPL):c.579C>A (p.Cys193Ter) rs747962998
NM_005373.3(MPL):c.680del (p.Pro227fs) rs2545676119
NM_005373.3(MPL):c.695C>A (p.Ser232Ter) rs1647019292
NM_005373.3(MPL):c.731C>A (p.Ser244Ter) rs2153917033
NM_005373.3(MPL):c.756C>A (p.Tyr252Ter) rs1647019645
NM_005373.3(MPL):c.758G>A (p.Trp253Ter) rs1647019692
NM_005373.3(MPL):c.761T>C (p.Leu254Pro) rs2545676752
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.862_864delinsT (p.Gly288fs) rs2545677398
NM_005373.3(MPL):c.973A>T (p.Arg325Ter) rs1647022933
NM_005373.3(MPL):c.98C>A (p.Ser33Ter) rs1228227826
NM_005373.3(MPL):c.992G>A (p.Trp331Ter) rs2545682324

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.