ClinVar Miner

List of variants studied for protein S deficiency by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 24
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000313.4(PROS1):c.*693G>A rs189450409 0.00369
NM_000313.4(PROS1):c.1528G>A (p.Val510Met) rs138925964 0.00331
NM_000313.4(PROS1):c.258A>G (p.Leu86=) rs139964194 0.00058
NM_000313.4(PROS1):c.-135C>T rs750502941 0.00031
NM_000313.4(PROS1):c.496A>C (p.Asn166His) rs758625995 0.00031
NM_000313.4(PROS1):c.-261C>T rs886058930 0.00029
NM_000313.4(PROS1):c.*1103A>G rs779418455 0.00024
NM_000313.4(PROS1):c.*155T>A rs534064879 0.00024
NM_000313.4(PROS1):c.1747A>C (p.Asn583His) rs139479630 0.00014
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.1331C>T (p.Pro444Leu) rs369244777 0.00009
NM_000313.4(PROS1):c.947G>A (p.Arg316His) rs747259055 0.00006
NM_000313.4(PROS1):c.*550G>A rs925792694 0.00005
NM_000313.4(PROS1):c.1247C>T (p.Pro416Leu) rs565325519 0.00005
NM_000313.4(PROS1):c.148A>G (p.Lys50Glu) rs748630360 0.00003
NM_000313.4(PROS1):c.688G>A (p.Glu230Lys) rs575777099 0.00003
NM_000313.4(PROS1):c.200A>C (p.Glu67Ala) rs766423432 0.00002
NM_000313.4(PROS1):c.1064G>A (p.Arg355His) rs780863931 0.00001
NM_000313.4(PROS1):c.1981A>G (p.Ile661Val) rs141122478 0.00001
NM_000313.4(PROS1):c.449A>G (p.Gln150Arg) rs754149240 0.00001
NM_000313.4(PROS1):c.469+5G>A rs756682607 0.00001
NM_000313.4(PROS1):c.*221del rs776969264
NM_000313.4(PROS1):c.119G>A (p.Arg40His) rs7614835

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.