List of variants in gene MPL reported as pathogenic for MPL-related disorder

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: 5

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HGVS	dbSNP	gnomAD frequency
NM_005373.3(MPL):c.79+2T>A	rs146249964	0.00018
NM_005373.3(MPL):c.127C>T (p.Arg43Ter)	rs148434485	0.00004
NM_005373.3(MPL):c.1621C>T (p.Gln541Ter)	rs369156948	0.00004
NM_005373.3(MPL):c.317C>T (p.Pro106Leu)	rs750046020	0.00001
NM_005373.3(MPL):c.378del (p.Phe126fs)	rs587778515

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