List of variants studied for blood coagulation disease by Division of Human Genetics, Children's Hospital of Philadelphia

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001001548.3(CD36):c.429+2T>C	rs3211893	0.00220
NM_000552.5(VWF):c.1922C>T (p.Ala641Val)	rs61754019	0.00098
NM_000419.5(ITGA2B):c.2965G>A (p.Ala989Thr)	rs78165611	0.00065
NM_000173.7(GP1BA):c.256C>T (p.Leu86Phe)	rs13306411	0.00007
NM_001001548.3(CD36):c.1254+1G>A	rs148051111	0.00004
NM_000419.5(ITGA2B):c.1043G>A (p.Arg348Gln)	rs1060499614	0.00001
NM_000552.5(VWF):c.2570A>G (p.Asn857Ser)	rs765163545	0.00001
NM_001001548.3(CD36):c.701_701+3dup	rs1554343345
NM_001098671.2(RASGRP2):c.1480dup (p.Arg494fs)	rs1555122100
NM_001098671.2(RASGRP2):c.542T>C (p.Phe181Ser)	rs1060499609
NM_001754.5(RUNX1):c.1294T>C (p.Cys432Arg)	rs1060499613
NM_001754.5(RUNX1):c.497G>A (p.Arg166Gln)	rs1060499616

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.