List of variants studied for Thrombophilia due to protein S deficiency, autosomal dominant by ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology

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

Total variants: 18

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000313.4(PROS1):c.234+72T>C	rs115491294	0.00923
NM_000313.4(PROS1):c.1528G>A (p.Val510Met)	rs138925964	0.00331
NM_000313.4(PROS1):c.227C>T (p.Pro76Leu)	rs73846070	0.00238
NM_000313.4(PROS1):c.1707C>T (p.Ser569=)	rs566166669	0.00005
NM_000313.4(PROS1):c.200A>C (p.Glu67Ala)	rs766423432	0.00002
NM_000313.4(PROS1):c.1594A>G (p.Thr532Ala)	rs371028997	0.00001
NM_000313.4(PROS1):c.988C>T (p.Arg330Trp)	rs536077692	0.00001
NM_000313.4(PROS1):c.1055T>G (p.Ile352Ser)	rs1708455723
NM_000313.4(PROS1):c.1088T>C (p.Leu363Pro)	rs2107150027
NM_000313.4(PROS1):c.1337T>C (p.Leu446Pro)	rs2107137626
NM_000313.4(PROS1):c.1501T>C (p.Ser501Pro)	rs121918472
NM_000313.4(PROS1):c.1501T>G (p.Ser501Ala)	rs121918472
NM_000313.4(PROS1):c.1544G>A (p.Arg515His)
NM_000313.4(PROS1):c.1862G>T (p.Gly621Val)	rs2107124949
NM_000313.4(PROS1):c.1916G>T (p.Cys639Phe)
NM_000313.4(PROS1):c.346+1G>T
NM_000313.4(PROS1):c.49dup (p.Leu17fs)	rs1575904540
NM_000313.4(PROS1):c.905T>G (p.Leu302Trp)

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.