ClinVar Miner

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

Included ClinVar conditions (281):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
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NM_005373.2(MPL):c.1303T>A (p.Trp435Arg) rs1553128241
NM_005373.2(MPL):c.1514G>A (p.Ser505Asn) rs121913614
NM_005373.2(MPL):c.305G>C (p.Arg102Pro) rs28928907
NM_005373.2(MPL):c.311T>C (p.Phe104Ser) rs1196161699
NM_005373.2(MPL):c.413del (p.Ile138fs) rs1343123940
NM_005373.2(MPL):c.981-1G>C rs769297582
NM_005373.3(MPL):c.1192del (p.Trp398fs)
NM_005373.3(MPL):c.1653+1del rs755257605
NM_005373.3(MPL):c.189C>A (p.Tyr63Ter)
NM_005373.3(MPL):c.269G>A (p.Arg90Gln) rs766638870
NM_005373.3(MPL):c.391G>A (p.Gly131Ser) rs775250202
NM_005373.3(MPL):c.79+2T>A rs146249964

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