ClinVar Miner

List of variants in gene GP1BB, SEPT5-GP1BB studied for Bernard-Soulier syndrome

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 32
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000407.5(GP1BB):c.389C>T (p.Pro130Leu) rs547921381 0.00302
NM_000407.5(GP1BB):c.119G>A (p.Gly40Glu) rs375285857 0.00115
NM_000407.5(GP1BB):c.143C>T (p.Ser48Leu) rs536874549 0.00027
NM_000407.5(GP1BB):c.215C>T (p.Pro72Leu) rs755380704 0.00020
NM_000407.5(GP1BB):c.268C>T (p.Pro90Ser) rs1197982563 0.00001
NM_000407.5(GP1BB):c.124_145del (p.Arg42fs)
NM_000407.5(GP1BB):c.137G>A (p.Trp46Ter) rs121909752
NM_000407.5(GP1BB):c.148C>A (p.Pro50Thr)
NM_000407.5(GP1BB):c.170C>T (p.Thr57Ile)
NM_000407.5(GP1BB):c.1A>T (p.Met1Leu) rs1389191920
NM_000407.5(GP1BB):c.22dup (p.Ala8fs)
NM_000407.5(GP1BB):c.236_244del (p.Pro79_Leu81del) rs1601248578
NM_000407.5(GP1BB):c.240_246dup (p.Thr83fs)
NM_000407.5(GP1BB):c.242T>G (p.Leu81Arg) rs2145796108
NM_000407.5(GP1BB):c.272G>A (p.Trp91Ter)
NM_000407.5(GP1BB):c.278G>A (p.Cys93Tyr)
NM_000407.5(GP1BB):c.2T>C (p.Met1Thr)
NM_000407.5(GP1BB):c.317_320dup (p.Glu109fs) rs2145796221
NM_000407.5(GP1BB):c.343G>T (p.Asp115Tyr)
NM_000407.5(GP1BB):c.400G>A (p.Glu134Lys) rs2145796377
NM_000407.5(GP1BB):c.406G>T (p.Glu136Ter) rs953345181
NM_000407.5(GP1BB):c.410T>C (p.Leu137Pro) rs1601248889
NM_000407.5(GP1BB):c.423C>A (p.Cys141Ter) rs1402804629
NM_000407.5(GP1BB):c.436C>T (p.Leu146Phe)
NM_000407.5(GP1BB):c.443G>A (p.Trp148Ter) rs1375840544
NM_000407.5(GP1BB):c.462_511del (p.Gln154fs)
NM_000407.5(GP1BB):c.47T>C (p.Leu16Pro) rs1601248210
NM_000407.5(GP1BB):c.491dup (p.His164fs)
NM_000407.5(GP1BB):c.500T>C (p.Leu167Pro) rs2145796556
NM_000407.5(GP1BB):c.505_516dup (p.Val169_Leu172dup) rs1601249021
NM_000407.5(GP1BB):c.536_545del (p.Arg179fs)
NM_000407.5(GP1BB):c.80C>T (p.Pro27Leu) rs2145795850

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.