ClinVar Miner

List of variants reported as benign for Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia by Invitae

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_005373.3(MPL):c.690A>G (p.Glu230=) rs16830693 0.05134
NM_005373.3(MPL):c.340G>A (p.Val114Met) rs12731981 0.02191
NM_005373.3(MPL):c.117G>T (p.Lys39Asn) rs17292650 0.01420
NM_005373.3(MPL):c.543T>C (p.Gly181=) rs17572791 0.00819
NM_005373.3(MPL):c.1309-10C>T rs139486615 0.00602
NM_005373.3(MPL):c.1565+5C>T rs41269541 0.00488
NM_005373.3(MPL):c.210G>A (p.Pro70=) rs6086 0.00482
NM_005373.3(MPL):c.1653+3G>A rs149625825 0.00367
NM_005373.3(MPL):c.1654-10T>A rs200460456 0.00196
NM_005373.3(MPL):c.1120A>G (p.Thr374Ala) rs190983971 0.00082
NM_005373.3(MPL):c.962G>A (p.Arg321Gln) rs149265851 0.00072
NM_005373.3(MPL):c.793C>T (p.Leu265Phe) rs117656396 0.00053
NM_005373.3(MPL):c.1794C>T (p.Cys598=) rs143457144 0.00025
NM_005373.3(MPL):c.1063A>G (p.Lys355Glu) rs546510242
NM_005373.3(MPL):c.1566-3del rs780125200

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