ClinVar Miner

List of variants in gene PROS1 reported as uncertain significance for Protein S deficiency disease

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000313.4(PROS1):c.698G>A (p.Arg233Lys) rs41267007 0.00202
NM_000313.4(PROS1):c.1095T>G (p.Asn365Lys) rs199469491 0.00155
NM_000313.4(PROS1):c.76+7A>G rs201928951 0.00056
NM_000313.4(PROS1):c.284G>A (p.Gly95Glu) rs144526169 0.00040
NM_000313.4(PROS1):c.*119T>C rs886058924 0.00026
NM_000313.4(PROS1):c.1553C>T (p.Thr518Met) rs373336653 0.00012
NM_000313.4(PROS1):c.293C>G (p.Thr98Ser) rs142805170 0.00011
NM_000313.4(PROS1):c.137T>C (p.Leu46Pro) rs779469907 0.00003
NM_000313.4(PROS1):c.1088T>C (p.Leu363Pro) rs2107150027
NM_000313.4(PROS1):c.119G>T (p.Arg40Leu) rs7614835
NM_000313.4(PROS1):c.1451A>G (p.Tyr484Cys) rs1576175763
NM_000313.4(PROS1):c.1454A>C (p.Tyr485Ser) rs1323663956
NM_000313.4(PROS1):c.1568T>C (p.Met523Thr) rs1483547708
NM_000313.4(PROS1):c.1681C>G (p.Arg561Gly) rs121918476
NM_000313.4(PROS1):c.1973A>G (p.His658Arg) rs1576170541
NM_000313.4(PROS1):c.511T>G (p.Cys171Gly) rs1576186985
NM_000313.4(PROS1):c.550del (p.Cys184fs) rs1576186962

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.