List of variants reported as likely pathogenic for Protein S deficiency disease by NIHR Bioresource Rare Diseases, University of Cambridge

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 17

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000313.4(PROS1):c.284G>A (p.Gly95Glu)	rs144526169	0.00040
NM_000313.4(PROS1):c.353C>T (p.Pro118Leu)	rs761574063	0.00003
NM_000313.4(PROS1):c.233C>T (p.Thr78Met)	rs6122	0.00002
NM_000313.4(PROS1):c.1680T>A (p.Tyr560Ter)	rs199469503	0.00001
NM_000313.3(PROS1):c.-168C>T	rs199469484
NM_000313.4(PROS1):c.1079A>G (p.Glu360Gly)	rs1576180176
NM_000313.4(PROS1):c.1126G>A (p.Asp376Asn)	rs1437372036
NM_000313.4(PROS1):c.1155+5G>A	rs199469494
NM_000313.4(PROS1):c.1284del (p.Gly429fs)	rs1576176794
NM_000313.4(PROS1):c.1351C>T (p.Arg451Ter)	rs5017717
NM_000313.4(PROS1):c.1405G>T (p.Glu469Ter)	rs267599946
NM_000313.4(PROS1):c.1514del (p.Gly505fs)	rs1576173175
NM_000313.4(PROS1):c.1543C>T (p.Arg515Cys)	rs199469500
NM_000313.4(PROS1):c.49dup (p.Leu17fs)	rs1575904540
NM_000313.4(PROS1):c.913C>T (p.Gln305Ter)	rs1395378093
NM_000313.4(PROS1):c.970T>C (p.Ser324Pro)	rs1576180280
Single allele

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.