ClinVar Miner

List of variants studied for blood platelet disease by Myriad Genetics, Inc.

Included ClinVar conditions (105):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_005476.7(GNE):c.1132G>T (p.Asp378Tyr) rs199877522 0.00021
NM_005373.3(MPL):c.79+2T>A rs146249964 0.00018
NM_005476.7(GNE):c.1892C>T (p.Ala631Val) rs62541771 0.00011
NM_005476.7(GNE):c.527A>T (p.Asp176Val) rs139425890 0.00003
NM_005476.7(GNE):c.1714G>C (p.Val572Leu) rs121908632 0.00002
NM_005476.7(GNE):c.829C>T (p.Arg277Cys) rs762106720 0.00002
NM_005476.7(GNE):c.2135T>C (p.Met712Thr) rs28937594 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.1270_1271del (p.Gln424fs)
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.214G>T (p.Glu72Ter) rs1406715863
NM_005373.3(MPL):c.244C>T (p.Gln82Ter) rs1647009785
NM_005373.3(MPL):c.280C>T (p.Gln94Ter) rs1647010155
NM_005373.3(MPL):c.292C>T (p.Gln98Ter)
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.408_409del (p.Ser137fs)
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.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)
NM_005476.7(GNE):c.1031T>A (p.Leu344Ter)
NM_005476.7(GNE):c.1033C>T (p.Gln345Ter) rs1829027066
NM_005476.7(GNE):c.1075A>T (p.Lys359Ter) rs1828929851
NM_005476.7(GNE):c.1113_1114delinsT (p.Leu371fs)
NM_005476.7(GNE):c.1153A>T (p.Lys385Ter) rs1828921198
NM_005476.7(GNE):c.1222del (p.Ser408fs)
NM_005476.7(GNE):c.1229T>A (p.Leu410Ter) rs1828914261
NM_005476.7(GNE):c.1294A>T (p.Lys432Ter) rs1828703342
NM_005476.7(GNE):c.1305del (p.Gln436fs)
NM_005476.7(GNE):c.1787T>A (p.Leu596Ter)
NM_005476.7(GNE):c.811G>T (p.Glu271Ter) rs1829294478
NM_005476.7(GNE):c.926dup (p.Ala310fs)
NM_005476.7(GNE):c.934_937del (p.Gly312fs)
NM_005476.7(GNE):c.955G>T (p.Gly319Ter) rs1829284405

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