List of variants in gene MPL reported as benign for Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

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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