List of variants in gene MPL reported as uncertain significance 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: 16

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HGVS	dbSNP	gnomAD frequency
NM_005373.3(MPL):c.1003G>A (p.Glu335Lys)	rs139770726	0.00059
NM_005373.3(MPL):c.655C>G (p.Gln219Glu)	rs142737453	0.00017
NM_005373.3(MPL):c.622C>A (p.Gln208Lys)	rs111460954	0.00006
NM_005373.3(MPL):c.1051C>T (p.Arg351Cys)	rs201998783	0.00005
NM_005373.3(MPL):c.173C>T (p.Ala58Val)	rs6087	0.00005
NM_005373.3(MPL):c.252G>A (p.Met84Ile)	rs769803049	0.00005
NM_005373.3(MPL):c.1277G>A (p.Arg426Gln)	rs200454070	0.00003
NM_005373.3(MPL):c.1805T>C (p.Met602Thr)	rs770770219	0.00002
NM_005373.3(MPL):c.1367G>C (p.Arg456Pro)	rs1207248925	0.00001
NM_005373.3(MPL):c.1643C>T (p.Ala548Val)	rs779404347	0.00001
NM_005373.3(MPL):c.95C>T (p.Ala32Val)	rs886046348	0.00001
NM_005373.3(MPL):c.131C>T (p.Thr44Ile)	rs772445486
NM_005373.3(MPL):c.1639G>A (p.Ala547Thr)	rs752258550
NM_005373.3(MPL):c.556C>G (p.Gln186Glu)	rs121913610
NM_005373.3(MPL):c.663A>G (p.Gly221=)	rs1647016206
NM_005373.3(MPL):c.684T>A (p.Ser228Arg)	rs766536759

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