ClinVar Miner

List of variants reported as pathogenic for Bernard-Soulier syndrome

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 27
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000174.5(GP9):c.182A>G (p.Asn61Ser) rs5030764 0.00076
NM_000173.7(GP1BA):c.434T>C (p.Leu145Pro) rs771048666 0.00013
NM_000174.5(GP9):c.212T>C (p.Phe71Ser) rs121918037 0.00001
NC_000003.12:g.129058767_129062425del
NM_000173.7(GP1BA):c.104del (p.Lys35fs) rs1555549041
NM_000173.7(GP1BA):c.1274_1275del (p.Glu425fs) rs773663190
NM_000173.7(GP1BA):c.1408del (p.Ser470fs)
NM_000173.7(GP1BA):c.1846_1852del (p.Asn616fs)
NM_000173.7(GP1BA):c.217C>T (p.Leu73Phe) rs121908063
NM_000173.7(GP1BA):c.241T>C (p.Cys81Arg) rs781541857
NM_000173.7(GP1BA):c.344T>C (p.Leu115Pro) rs1597638598
NM_000173.7(GP1BA):c.499G>T (p.Glu167Ter) rs753768072
NM_000173.7(GP1BA):c.515C>T (p.Ala172Val) rs121908065
NM_000173.7(GP1BA):c.58T>G (p.Cys20Gly) rs2151107661
NM_000173.7(GP1BA):c.673T>A (p.Cys225Ser) rs1394634674
NM_000173.7(GP1BA):c.674G>C (p.Cys225Ser) rs2151107940
NM_000174.5(GP9):c.-210_*133del (p.Met1fs)
NM_000174.5(GP9):c.284A>G (p.Tyr95Cys) rs1946583076
NM_000174.5(GP9):c.70T>C (p.Cys24Arg) rs28933378
NM_000174.5(GP9):c.8_11dup (p.Trp4fs)
NM_000407.5(GP1BB):c.124_145del (p.Arg42fs)
NM_000407.5(GP1BB):c.1A>T (p.Met1Leu) rs1389191920
NM_000407.5(GP1BB):c.22dup (p.Ala8fs)
NM_000407.5(GP1BB):c.317_320dup (p.Glu109fs) rs2145796221
NM_000407.5(GP1BB):c.443G>A (p.Trp148Ter) rs1375840544
NM_000407.5(GP1BB):c.47T>C (p.Leu16Pro) rs1601248210
NM_000407.5(GP1BB):c.500T>C (p.Leu167Pro) rs2145796556

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.