List of variants in gene MPL reported by Revvity Omics, Revvity

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_005373.3(MPL):c.1003G>A (p.Glu335Lys)	rs139770726	0.00059
NM_005373.3(MPL):c.1488C>T (p.Thr496=)	rs140091584	0.00056
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.391+5G>C	rs752453717	0.00012
NM_005373.3(MPL):c.622C>A (p.Gln208Lys)	rs111460954	0.00006
NM_005373.3(MPL):c.127C>T (p.Arg43Ter)	rs148434485	0.00004
NM_005373.3(MPL):c.1305G>C (p.Trp435Cys)	rs1006158872	0.00001
NM_005373.3(MPL):c.317C>T (p.Pro106Leu)	rs750046020	0.00001
NM_005373.3(MPL):c.1545_1546dup (p.Gln516fs)	rs2545686090
NM_005373.3(MPL):c.378del (p.Phe126fs)	rs587778515

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.