List of variants in gene MPL reported as pathogenic by Genetic Services Laboratory, University of Chicago

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_005373.3(MPL):c.305G>C (p.Arg102Pro)	rs28928907	0.00035
NM_005373.3(MPL):c.79+2T>A	rs146249964	0.00018
NM_005373.3(MPL):c.235_236del (p.Leu79fs)	rs587778514	0.00005
NM_005373.3(MPL):c.1422G>A (p.Trp474Ter)	rs754859909	0.00003
NM_005373.3(MPL):c.1544G>T (p.Trp515Leu)	rs121913615	0.00001
NM_005373.3(MPL):c.1316_1320del (p.Glu439fs)	rs1292577132
NM_005373.3(MPL):c.189C>A (p.Tyr63Ter)	rs1373623383
NM_005373.3(MPL):c.313_316del (p.Phe105fs)	rs2153916498
NM_005373.3(MPL):c.367C>T (p.Arg123Ter)	rs1443655691
NM_005373.3(MPL):c.972del (p.Arg325fs)	rs770457041

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