ClinVar Miner

List of variants studied for protein S deficiency by Genetics and Molecular Pathology, SA Pathology

Included ClinVar conditions (6):

Abnormal thrombosis; Protein S deficiency disease
Hereditary thrombophilia due to congenital protein S deficiency
Protein S deficiency disease
Thrombophilia due to protein S deficiency, autosomal dominant
Thrombophilia due to protein S deficiency, autosomal dominant; Thrombophilia due to protein S deficiency, autosomal recessive
Thrombophilia due to protein S deficiency, autosomal recessive

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

Total variants: 3

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000313.4(PROS1):c.1832T>C (p.Met611Thr)	rs750531364	0.00001
NM_000313.4(PROS1):c.1501T>C (p.Ser501Pro)	rs121918472
NM_000313.4(PROS1):c.684C>G (p.Cys228Trp)

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.