ClinVar Miner

List of variants reported as pathogenic for hematologic disorder by ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 163
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HGVS dbSNP gnomAD frequency
NM_005105.5(RBM8A):c.-21G>A rs139428292 0.01871
NM_000130.4(F5):c.1601G>A (p.Arg534Gln) rs6025 0.01762
NM_000506.5(F2):c.*97G>A rs1799963 0.00979
NM_000552.5(VWF):c.4196G>A (p.Arg1399His) rs1800382 0.00907
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln) rs41276738 0.00377
NM_019616.4(F7):c.1025G>A (p.Arg342Gln) rs121964926 0.00118
NM_000174.5(GP9):c.182A>G (p.Asn61Ser) rs5030764 0.00076
NM_000128.4(F11):c.403G>T (p.Glu135Ter) rs121965063 0.00066
NM_000128.4(F11):c.901T>C (p.Phe301Leu) rs121965064 0.00065
NM_000212.3(ITGB3):c.2248C>T (p.Arg750Ter) rs121918450 0.00016
NM_000173.7(GP1BA):c.434T>C (p.Leu145Pro) rs771048666 0.00013
NM_000132.4(F8):c.1094A>G (p.Tyr365Cys) rs375241473 0.00007
NM_000552.5(VWF):c.4975C>T (p.Arg1659Ter) rs61750595 0.00006
NM_030773.4(TUBB1):c.35del (p.Cys12fs) rs773248042 0.00006
NM_000128.4(F11):c.1716+1G>A rs373297713 0.00003
NM_005141.5(FGB):c.139C>T (p.Arg47Ter) rs121909625 0.00003
NM_000419.5(ITGA2B):c.641T>C (p.Leu214Pro) rs137852911 0.00002
NM_181507.2(HPS5):c.543del (p.Gln181fs) rs755827664 0.00002
NM_000128.4(F11):c.1556G>A (p.Trp519Ter) rs201007090 0.00001
NM_000132.4(F8):c.1834C>T (p.Arg612Cys) rs137852428 0.00001
NM_000133.4(F9):c.571C>T (p.Arg191Cys) rs137852237 0.00001
NM_000174.5(GP9):c.212T>C (p.Phe71Ser) rs121918037 0.00001
NM_000212.3(ITGB3):c.431T>G (p.Met144Arg) rs77963874 0.00001
NM_000419.5(ITGA2B):c.1063G>A (p.Glu355Lys) rs137852910 0.00001
NM_000419.5(ITGA2B):c.1214T>C (p.Ile405Thr) rs75622274 0.00001
NM_000419.5(ITGA2B):c.2113T>C (p.Cys705Arg) rs77961246 0.00001
NM_000419.5(ITGA2B):c.2333A>C (p.Gln778Pro) rs74475415 0.00001
NM_000419.5(ITGA2B):c.2929C>T (p.Arg977Ter) rs79657230 0.00001
NM_000419.5(ITGA2B):c.2944G>A (p.Val982Met) rs78657866 0.00001
NM_000460.4(THPO):c.469C>T (p.Arg157Ter) rs1412486198 0.00001
NM_000488.4(SERPINC1):c.391C>T (p.Leu131Phe) rs121909567 0.00001
NM_000552.5(VWF):c.4135C>T (p.Arg1379Cys) rs61750074 0.00001
NM_000552.5(VWF):c.7437G>A (p.Ser2479=) rs267607363 0.00001
NM_000552.5(VWF):c.970C>T (p.Arg324Ter) rs61754000 0.00001
NM_001754.5(RUNX1):c.496C>T (p.Arg166Ter) rs759068561 0.00001
NM_002049.4(GATA1):c.647G>A (p.Arg216Gln) rs104894809 0.00001
NM_021870.2(FGG):c.902G>A (p.Arg301His) rs121913088 0.00001
NM_030773.4(TUBB1):c.1267C>T (p.Gln423Ter) rs767041023 0.00001
NM_032383.5(HPS3):c.2464C>T (p.Arg822Ter) rs369855073 0.00001
GRCh37/hg19 1q21.1(chr1:145038814-145747463)
NC_000001.10:g.145505732_145513588del
NC_000003.12:g.129058767_129062425del
NC_000013.11:g.109179481_114327244del
NM_000128.4(F11):c.908del (p.Gly303fs) rs786204722
NM_000130.5(F5):c.2401C>T (p.Gln801Ter) rs118203908
NM_000130.5(F5):c.5403del (p.Lys1801fs)
NM_000132.4(F8):c.1910A>G (p.Asn637Ser) rs2073315379
NM_000132.4(F8):c.2150G>T (p.Arg717Leu) rs942909873
NM_000132.4(F8):c.541G>A (p.Val181Met) rs137852394
NM_000132.4(F8):c.5883G>A (p.Trp1961Ter)
NM_000132.4(F8):c.6104T>C (p.Val2035Ala) rs1603432906
NM_000133.4(F9):c.835G>A (p.Ala279Thr) rs137852247
NM_000173.7(GP1BA):c.1326_1334del (p.Glu442_Pro445delinsAsp) rs2151108403
NM_000173.7(GP1BA):c.1408del (p.Ser470fs)
NM_000173.7(GP1BA):c.1846_1852del (p.Asn616fs)
NM_000173.7(GP1BA):c.344T>C (p.Leu115Pro) rs1597638598
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_000173.7(GP1BA):c.737G>T (p.Trp246Leu) rs2151107964
NM_000173.7(GP1BA):c.746G>A (p.Gly249Asp) rs121908062
NM_000173.7(GP1BA):c.746G>T (p.Gly249Val) rs121908062
NM_000173.7(GP1BA):c.763A>G (p.Met255Val) rs121908064
NM_000173.7(GP1BA):c.793G>T (p.Asp265Tyr) rs765474118
NM_000174.5(GP9):c.-210_*133del (p.Met1fs)
NM_000195.5(HPS1):c.1189del (p.Gln397fs) rs281865084
NM_000195.5(HPS1):c.610G>T (p.Glu204Ter) rs747607498
NM_000195.5(HPS1):c.972dup (p.Met325fs) rs281865082
NM_000212.3(ITGB3):c.444C>G (p.Tyr148Ter) rs887221055
NM_000212.3(ITGB3):c.448A>G (p.Met150Val) rs767548512
NM_000212.3(ITGB3):c.709_710del (p.Ser237fs) rs746626039
NM_000212.3(ITGB3):c.992A>G (p.Asn331Ser) rs2143105853
NM_000312.4(PROC):c.41G>A (p.Trp14Ter) rs758576042
NM_000313.4(PROS1):c.-39C>T rs2107279407
NM_000313.4(PROS1):c.139G>T (p.Glu47Ter) rs1709034856
NM_000313.4(PROS1):c.1764_1765del (p.Pro589fs) rs2107125195
NM_000377.3(WAS):c.1001del (p.Gly334fs) rs1569494025
NM_000377.3(WAS):c.167C>T (p.Ala56Val) rs132630269
NM_000377.3(WAS):c.257G>A (p.Arg86His) rs132630268
NM_000377.3(WAS):c.802del (p.Arg268fs) rs2147265894
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
NM_000419.5(ITGA2B):c.1073G>A (p.Arg358His) rs137852908
NM_000419.5(ITGA2B):c.1229C>A (p.Pro410His)
NM_000419.5(ITGA2B):c.1234G>A (p.Gly412Arg) rs780786843
NM_000419.5(ITGA2B):c.1612G>T (p.Glu538Ter) rs780837520
NM_000419.5(ITGA2B):c.1882C>T (p.Arg628Ter) rs1236922680
NM_000419.5(ITGA2B):c.2169del (p.Pro723_Met724insTer) rs2143447351
NM_000419.5(ITGA2B):c.2174del (p.Lys725fs) rs2143447308
NM_000419.5(ITGA2B):c.2637del (p.Ile880fs) rs2048535487
NM_000419.5(ITGA2B):c.266G>A (p.Trp89Ter) rs2048646082
NM_000419.5(ITGA2B):c.2748_2757del (p.Thr917fs) rs76572092
NM_000419.5(ITGA2B):c.2965del (p.Ala989fs) rs2048521625
NM_000419.5(ITGA2B):c.3092_3093dup (p.Glu1032fs) rs2048504826
NM_000460.4(THPO):c.825del (p.Ser276fs) rs2108617673
NM_000488.4(SERPINC1):c.482G>A (p.Arg161Gln) rs121909563
NM_000504.4(F10):c.162_163del (p.Glu56fs) rs749213415
NM_000504.4(F10):c.837C>A (p.Tyr279Ter) rs1250509122
NM_000552.5(VWF):c.3666C>A (p.Cys1222Ter)
NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu) rs61749370
NM_000552.5(VWF):c.3916C>T (p.Arg1306Trp) rs61749384
NM_000552.5(VWF):c.3922C>T (p.Arg1308Cys) rs61749387
NM_000552.5(VWF):c.3931C>T (p.Gln1311Ter) rs267607337
NM_000552.5(VWF):c.3943C>T (p.Arg1315Cys) rs61749395
NM_000552.5(VWF):c.4120C>T (p.Arg1374Cys) rs61750071
NM_000552.5(VWF):c.4121G>A (p.Arg1374His) rs61750072
NM_000552.5(VWF):c.421G>A (p.Asp141Asn) rs61753992
NM_000552.5(VWF):c.4883T>C (p.Ile1628Thr) rs61750584
NM_000552.5(VWF):c.5621-50_5842+50del rs2136403361
NM_000552.5(VWF):c.6634dup (p.Cys2212fs) rs1268159078
NM_001098671.2(RASGRP2):c.1142C>T (p.Ser381Phe) rs767965347
NM_001098671.2(RASGRP2):c.337C>T (p.Arg113Ter) rs1592384832
NM_001098671.2(RASGRP2):c.706C>T (p.Gln236Ter) rs2135780423
NM_001130004.2(ACTN1):c.1181A>G (p.His394Arg) rs1594768482
NM_001130004.2(ACTN1):c.1348C>T (p.Arg450Cys) rs1594760036
NM_001130004.2(ACTN1):c.137G>A (p.Arg46Gln) rs387907348
NM_001130004.2(ACTN1):c.2141G>A (p.Arg714His) rs1383792017
NM_001130004.2(ACTN1):c.313G>A (p.Val105Ile) rs387907345
NM_001130004.2(ACTN1):c.384G>T (p.Trp128Cys) rs2140302103
NM_001372123.1(IKZF5):c.418T>C (p.Cys140Arg) rs2133379859
NM_001372123.1(IKZF5):c.463C>T (p.His155Tyr) rs2133379669
NM_001377304.1(GFI1B):c.520A>G (p.Thr174Ala)
NM_001377304.1(GFI1B):c.692G>T (p.Arg231Leu)
NM_001377304.1(GFI1B):c.859C>T (p.Gln287Ter) rs587777211
NM_001754.5(RUNX1):c.497G>A (p.Arg166Gln) rs1060499616
NM_001754.5(RUNX1):c.586A>G (p.Thr196Ala) rs2057541324
NM_001754.5(RUNX1):c.601C>T (p.Arg201Ter) rs1057519748
NM_001754.5(RUNX1):c.610C>T (p.Arg204Ter) rs1569061768
NM_001754.5(RUNX1):c.802C>T (p.Gln268Ter) rs2146074437
NM_001754.5(RUNX1):c.847C>T (p.Gln283Ter) rs374341207
NM_001987.5(ETV6):c.1195C>T (p.Arg399Cys) rs724159945
NM_002017.5(FLI1):c.844C>T (p.Gln282Ter)
NM_002049.4(GATA1):c.653A>G (p.Asp218Gly) rs104894816
NM_002049.4(GATA1):c.865C>T (p.His289Tyr)
NM_002473.6(MYH9):c.2104C>T (p.Arg702Cys) rs80338826
NM_002473.6(MYH9):c.2152C>T (p.Arg718Trp) rs1184544985
NM_002473.6(MYH9):c.277A>G (p.Asn93Asp)
NM_002473.6(MYH9):c.279C>G (p.Asn93Lys) rs121913655
NM_002473.6(MYH9):c.3493C>T (p.Arg1165Cys) rs80338829
NM_002473.6(MYH9):c.4270G>A (p.Asp1424Asn) rs80338831
NM_002473.6(MYH9):c.4270G>T (p.Asp1424Tyr) rs80338831
NM_002473.6(MYH9):c.5521G>A (p.Glu1841Lys) rs80338834
NM_002473.6(MYH9):c.5765+2T>C
NM_002473.6(MYH9):c.5773del (p.Asp1925fs) rs2146325507
NM_002473.6(MYH9):c.5797C>T (p.Arg1933Ter) rs80338835
NM_014915.3(ANKRD26):c.-126T>G rs1589393792
NM_014915.3(ANKRD26):c.-127A>G rs1589393799
NM_014915.3(ANKRD26):c.-128G>A rs1589393809
NM_014915.3(ANKRD26):c.2356C>T (p.Arg786Ter)
NM_015175.3(NBEAL2):c.4890del (p.Arg1631fs) rs2037042664
NM_016363.5(GP6):c.708_711del (p.Asn236fs) rs754929349
NM_019616.4(F7):c.1325del (p.Pro442fs) rs750457207
NM_019616.4(F7):c.783_799del (p.Arg262fs) rs786205091
NM_021870.2(FGG):c.901C>T (p.Arg301Cys) rs121913087
NM_022081.6(HPS4):c.2054del (p.Pro685fs) rs2146241760
NM_030773.4(TUBB1):c.806G>A (p.Gly269Asp)
Single allele

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