ClinVar Miner

List of variants in gene MPL reported as pathogenic for anemia (disease)

Included ClinVar conditions (258):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 16
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HGVS dbSNP
MPL, 1-BP DEL, 1499T
MPL, IVS10AS, G-T, -1
NM_005373.2(MPL):c.127C>T (p.Arg43Ter) rs148434485
NM_005373.2(MPL):c.1473G>A (p.Trp491Ter) rs121913613
NM_005373.2(MPL):c.1543_1544delTGinsAA (p.Trp515Lys) rs121913616
NM_005373.2(MPL):c.1544G>T (p.Trp515Leu) rs121913615
NM_005373.2(MPL):c.1904C>T (p.Pro635Leu) rs121913612
NM_005373.2(MPL):c.235_236delCT (p.Leu79Glufs) rs587778514
NM_005373.2(MPL):c.305G>C (p.Arg102Pro) rs28928907
NM_005373.2(MPL):c.378delT (p.Phe126Leufs) rs587778515
NM_005373.2(MPL):c.413delT (p.Ile138Thrfs) rs1343123940
NM_005373.2(MPL):c.556C>T (p.Gln186Ter) rs121913610
NM_005373.2(MPL):c.769C>T (p.Arg257Cys) rs121913611
NM_005373.2(MPL):c.79+2T>A rs146249964
NM_005373.2(MPL):c.823C>A (p.Pro275Thr) rs28928908
NM_005373.2(MPL):c.972del (p.Arg325Glufs) rs770457041

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