List of variants in gene RUNX1 reported as likely pathogenic by Birmingham Platelet Group; University of Birmingham

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: 7

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001754.5(RUNX1):c.1270T>G (p.Ser424Ala)	rs2056451534	0.00003
NM_001754.5(RUNX1):c.611G>A (p.Arg204Gln)	rs1569061762	0.00001
NM_001754.5(RUNX1):c.1256T>G (p.Val419Gly)	rs2056452215
NM_001754.5(RUNX1):c.1270T>C (p.Ser424Pro)	rs2056451534
NM_001754.5(RUNX1):c.403G>A (p.Gly135Ser)	rs1186716957
NM_001754.5(RUNX1):c.586A>G (p.Thr196Ala)	rs2057541324
NM_001754.5(RUNX1):c.593A>T (p.Asp198Val)	rs1569061786

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.