ClinVar Miner

List of variants reported as likely pathogenic for Congenital amegakaryocytic thrombocytopenia

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Total variants: 21
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HGVS dbSNP
NM_005373.2(MPL):c.1303T>A (p.Trp435Arg) rs1553128241
NM_005373.2(MPL):c.305G>C (p.Arg102Pro) rs28928907
NM_005373.2(MPL):c.413del (p.Ile138fs) rs1343123940
NM_005373.3(MPL):c.1003G>T (p.Glu335Ter)
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.214G>T (p.Glu72Ter)
NM_005373.3(MPL):c.244C>T (p.Gln82Ter)
NM_005373.3(MPL):c.269G>A (p.Arg90Gln) rs766638870
NM_005373.3(MPL):c.280C>T (p.Gln94Ter)
NM_005373.3(MPL):c.391G>A (p.Gly131Ser) rs775250202
NM_005373.3(MPL):c.461G>A (p.Trp154Ter)
NM_005373.3(MPL):c.695C>A (p.Ser232Ter)
NM_005373.3(MPL):c.756C>A (p.Tyr252Ter)
NM_005373.3(MPL):c.758G>A (p.Trp253Ter)
NM_005373.3(MPL):c.763C>T (p.Gln255Ter)
NM_005373.3(MPL):c.79+2T>A rs146249964
NM_005373.3(MPL):c.807G>A (p.Trp269Ter)
NM_005373.3(MPL):c.815G>A (p.Trp272Ter)
NM_005373.3(MPL):c.98C>A (p.Ser33Ter)

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