ClinVar Miner

List of variants reported as pathogenic for blood coagulation disease by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

Included ClinVar conditions (153):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 43
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000128.4(F11):c.403G>T (p.Glu135Ter) rs121965063 0.00066
NM_139027.6(ADAMTS13):c.3070T>G (p.Cys1024Gly) rs121908472 0.00012
NM_000128.4(F11):c.1489C>T (p.Arg497Ter) rs375422404 0.00003
NM_000552.5(VWF):c.3379+1G>A rs2363337 0.00002
NM_000128.4(F11):c.1432G>A (p.Gly478Arg) rs542967227 0.00001
NM_000552.5(VWF):c.4075G>A (p.Glu1359Lys) rs61749407 0.00001
NM_019616.4(F7):c.1043G>T (p.Cys348Phe) rs121964927 0.00001
NM_000020.3(ACVRL1):c.1130C>T (p.Ala377Val)
NM_000020.3(ACVRL1):c.1468C>T (p.Gln490Ter) rs1085307429
NM_000129.4(F13A1):c.798+2T>C rs1757581465
NM_000130.5(F5):c.2615del (p.Arg872fs) rs2101819850
NM_000132.4(F8):c.1804C>T (p.Arg602Ter) rs137852424
NM_000132.4(F8):c.233del (p.Phe78fs) rs2124148911
NM_000132.4(F8):c.255dup (p.Pro86fs) rs2124148856
NM_000132.4(F8):c.3266C>A (p.Ser1089Ter) rs2073189135
NM_000132.4(F8):c.494del (p.Pro165fs) rs2124140985
NM_000132.4(F8):c.5218A>G (p.Arg1740Gly)
NM_000133.4(F9):c.1025C>T (p.Thr342Met) rs137852254
NM_000133.4(F9):c.676C>T (p.Arg226Trp) rs137852240
NM_000195.5(HPS1):c.1395G>A (p.Trp465Ter) rs786205464
NM_000195.5(HPS1):c.972dup (p.Met325fs) rs281865082
NM_000212.3(ITGB3):c.727G>C (p.Asp243His) rs1598690937
NM_000377.3(WAS):c.257G>A (p.Arg86His) rs132630268
NM_000419.5(ITGA2B):c.558C>G (p.Tyr186Ter) rs1416238665
NM_000504.4(F10):c.513del (p.Cys172fs) rs2138548669
NM_000508.5(FGA):c.2155del (p.Gln719fs) rs2110806028
NM_000552.5(VWF):c.1110-1G>T rs61754005
NM_000552.5(VWF):c.1730-1G>T rs1591889534
NM_000552.5(VWF):c.1843dup (p.Cys615fs) rs2136454246
NM_000552.5(VWF):c.3157dup (p.Gln1053fs) rs2136420496
NM_000552.5(VWF):c.4413del (p.Asp1472fs) rs1565831817
NM_001001548.3(CD36):c.1240_1243dup (p.Trp415fs) rs757142781
NM_001001548.3(CD36):c.729C>A (p.Cys243Ter) rs149985988
NM_001754.5(RUNX1):c.601C>T (p.Arg201Ter) rs1057519748
NM_001987.5(ETV6):c.1254G>T (p.Arg418Ser)
NM_001994.3(F13B):c.565G>T (p.Gly189Ter) rs2125071982
NM_006580.4(CLDN16):c.152T>G (p.Val51Gly)
NM_019616.4(F7):c.1272G>A (p.Trp424Ter) rs2142234775
NM_019616.4(F7):c.394G>T (p.Glu132Ter) rs146795869
NM_139027.6(ADAMTS13):c.3547G>A (p.Gly1183Arg)
NM_172351.3(CD46):c.350_351dup (p.Glu118fs) rs2102541856
NM_181507.2(HPS5):c.2979_2982del (p.Cys993fs) rs886041723
NM_201280.3(BLOC1S5):c.2T>G (p.Met1Arg)

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.