ClinVar Miner

List of variants reported as likely pathogenic for Congenital amegakaryocytic thrombocytopenia

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 53
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.712G>T (p.Gly238Cys) rs144210383 0.00003
NM_005373.3(MPL):c.1744_1745del (p.Leu582fs) rs770402221 0.00002
NM_005373.3(MPL):c.1309-1G>T rs1243113655 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)
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.1303T>A (p.Trp435Arg) rs1553128241
NM_005373.3(MPL):c.1385_1389del (p.Arg462fs)
NM_005373.3(MPL):c.147_148insGTCTCTTATACACA (p.Cys50fs)
NM_005373.3(MPL):c.155G>A (p.Trp52Ter)
NM_005373.3(MPL):c.1589C>T (p.Pro530Leu)
NM_005373.3(MPL):c.1653+2T>C
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.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)
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.398del (p.Pro133fs)
NM_005373.3(MPL):c.407C>G (p.Pro136Arg)
NM_005373.3(MPL):c.408_409del (p.Ser137fs)
NM_005373.3(MPL):c.413del (p.Ile138fs) rs1343123940
NM_005373.3(MPL):c.45_46insTATAAGAGACA (p.Ala16fs)
NM_005373.3(MPL):c.461G>A (p.Trp154Ter) rs1647014537
NM_005373.3(MPL):c.56del (p.Asn19fs)
NM_005373.3(MPL):c.579C>A (p.Cys193Ter)
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.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.862_864delinsT (p.Gly288fs)
NM_005373.3(MPL):c.973A>T (p.Arg325Ter)
NM_005373.3(MPL):c.98C>A (p.Ser33Ter) rs1228227826
NM_005373.3(MPL):c.992G>A (p.Trp331Ter)

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.