ClinVar Miner

List of variants studied for Glanzmann thrombasthenia by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 173
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HGVS dbSNP gnomAD frequency
NM_000212.3(ITGB3):c.*1016T>A rs3809865 0.69848
NM_000212.3(ITGB3):c.2301+9C>T rs3809863 0.46212
NM_000419.5(ITGA2B):c.2621T>G (p.Ile874Ser) rs5911 0.38983
NM_000419.5(ITGA2B):c.3063C>T (p.Val1021=) rs5910 0.38791
NM_000419.5(ITGA2B):c.2188-7C>G rs850730 0.38774
NM_000212.3(ITGB3):c.1533A>G (p.Glu511=) rs4642 0.28601
NM_000212.3(ITGB3):c.1545G>A (p.Arg515=) rs4634 0.28592
NM_000212.3(ITGB3):c.176T>C (p.Leu59Pro) rs5918 0.13037
NM_000212.3(ITGB3):c.882T>C (p.Pro294=) rs5919 0.10166
NM_000212.3(ITGB3):c.*713A>G rs2317676 0.09380
NM_000212.3(ITGB3):c.*2327G>A rs58365772 0.05104
NM_000212.3(ITGB3):c.*671C>T rs16941864 0.04199
NM_000212.3(ITGB3):c.-7G>C rs117052258 0.02423
NM_000419.5(ITGA2B):c.2094+13C>T rs12938868 0.02354
NM_000212.3(ITGB3):c.342T>C (p.Ile114=) rs5920 0.01758
NM_000212.3(ITGB3):c.*1542C>T rs73322321 0.01652
NM_000212.3(ITGB3):c.*919C>T rs73322319 0.01650
NM_000419.5(ITGA2B):c.1545-8C>A rs41361752 0.01409
NM_000212.3(ITGB3):c.*1479T>C rs115310198 0.01139
NM_000212.3(ITGB3):c.40G>A (p.Val14Met) rs115600591 0.01103
NM_000419.5(ITGA2B):c.439C>G (p.Leu147Val) rs76066357 0.00936
NM_000212.3(ITGB3):c.2208C>T (p.Ala736=) rs73322311 0.00885
NM_000212.3(ITGB3):c.*2455A>C rs73322322 0.00876
NM_000212.3(ITGB3):c.*1154G>A rs56288308 0.00791
NM_000419.5(ITGA2B):c.2614C>A (p.Leu872Met) rs149468422 0.00662
NM_000212.3(ITGB3):c.*517C>T rs192380904 0.00587
NM_000212.3(ITGB3):c.*1985T>C rs148880380 0.00583
NM_000419.5(ITGA2B):c.1848G>A (p.Val616=) rs79289329 0.00571
NM_000419.5(ITGA2B):c.2127G>A (p.Lys709=) rs114232872 0.00531
NM_000212.3(ITGB3):c.*1959C>T rs192215916 0.00384
NM_000419.5(ITGA2B):c.2916G>A (p.Pro972=) rs5913 0.00354
NM_000212.3(ITGB3):c.58C>T (p.Leu20=) rs548495900 0.00345
NM_000212.3(ITGB3):c.57G>T (p.Ala19=) rs534654534 0.00344
NM_000419.5(ITGA2B):c.1627C>T (p.Arg543Trp) rs143967758 0.00277
NM_000419.5(ITGA2B):c.2602G>A (p.Val868Met) rs74988902 0.00239
NM_000212.3(ITGB3):c.*1714T>C rs187420016 0.00235
NM_000212.3(ITGB3):c.*2117G>T rs534143307 0.00198
NM_000212.3(ITGB3):c.197T>G (p.Leu66Arg) rs36080296 0.00155
NM_000212.3(ITGB3):c.754A>G (p.Ile252Val) rs56173532 0.00097
NM_000212.3(ITGB3):c.506G>A (p.Arg169Gln) rs5917 0.00091
NM_000419.5(ITGA2B):c.1846G>A (p.Val616Met) rs141885563 0.00088
NM_000212.3(ITGB3):c.*271C>G rs189009415 0.00078
NM_000212.3(ITGB3):c.2131C>T (p.Pro711Ser) rs138729147 0.00065
NM_000419.5(ITGA2B):c.2965G>A (p.Ala989Thr) rs78165611 0.00065
NM_000419.5(ITGA2B):c.799+15C>T rs374469971 0.00061
NM_000212.3(ITGB3):c.1299C>T (p.Pro433=) rs200857868 0.00053
NM_000212.3(ITGB3):c.72C>T (p.Gly24=) rs768269394 0.00052
NM_000212.3(ITGB3):c.1800G>A (p.Leu600=) rs139884210 0.00038
NM_000419.5(ITGA2B):c.207C>T (p.Gly69=) rs375882355 0.00038
NM_000212.3(ITGB3):c.*480T>C rs553453000 0.00036
NM_000419.5(ITGA2B):c.487T>C (p.Leu163=) rs141497408 0.00036
NM_000212.3(ITGB3):c.1902C>T (p.Cys634=) rs149823724 0.00031
NM_000212.3(ITGB3):c.285C>T (p.Leu95=) rs151121691 0.00030
NM_000212.3(ITGB3):c.*1960G>A rs762687226 0.00029
NM_000212.3(ITGB3):c.670G>A (p.Asp224Asn) rs763017753 0.00026
NM_000419.5(ITGA2B):c.2449-11C>T rs201702898 0.00026
NM_000419.5(ITGA2B):c.671-13C>T rs200108644 0.00026
NM_000419.5(ITGA2B):c.2363C>A (p.Ala788Asp) rs142445733 0.00021
NM_000212.3(ITGB3):c.2196C>T (p.Leu732=) rs201741054 0.00019
NM_000212.3(ITGB3):c.537C>T (p.Phe179=) rs770144031 0.00019
NM_000212.3(ITGB3):c.900T>C (p.His300=) rs376378154 0.00019
NM_000419.5(ITGA2B):c.1545-10G>A rs13306474 0.00018
NM_000419.5(ITGA2B):c.1708G>A (p.Gly570Arg) rs146382550 0.00018
NM_000212.3(ITGB3):c.*460A>G rs539834727 0.00017
NM_000212.3(ITGB3):c.1960G>A (p.Glu654Lys) rs70940817 0.00017
NM_000419.5(ITGA2B):c.1394-14C>T rs368062044 0.00016
NM_000419.5(ITGA2B):c.2348+15G>A rs200571001 0.00016
NM_000212.3(ITGB3):c.*2081T>G rs577778439 0.00015
NM_000419.5(ITGA2B):c.*51C>T rs139513907 0.00013
NM_000212.3(ITGB3):c.*1292G>T rs779099404 0.00011
NM_000419.5(ITGA2B):c.1628G>A (p.Arg543Gln) rs139770734 0.00011
NM_000419.5(ITGA2B):c.2334A>G (p.Gln778=) rs117870452 0.00011
NM_000212.3(ITGB3):c.985A>G (p.Asn329Asp) rs201550717 0.00010
NM_000212.3(ITGB3):c.16C>T (p.Arg6Trp) rs752525603 0.00009
NM_000419.5(ITGA2B):c.1366G>A (p.Val456Ile) rs142111372 0.00009
NM_000212.3(ITGB3):c.180C>T (p.Gly60=) rs373101628 0.00008
NM_000419.5(ITGA2B):c.671-15T>C rs200877591 0.00008
NM_000212.3(ITGB3):c.*1505G>T rs760779885 0.00007
NM_000419.5(ITGA2B):c.1439+8C>T rs371050454 0.00007
NM_000212.3(ITGB3):c.*1817T>A rs776553854 0.00006
NM_000212.3(ITGB3):c.*2030C>A rs886053098 0.00006
NM_000212.3(ITGB3):c.*699C>T rs886053093 0.00006
NM_000212.3(ITGB3):c.1459C>T (p.Arg487Cys) rs369140365 0.00006
NM_000212.3(ITGB3):c.2085C>T (p.Tyr695=) rs373450805 0.00006
NM_000419.5(ITGA2B):c.1157G>A (p.Arg386Gln) rs767338191 0.00006
NM_000419.5(ITGA2B):c.2862G>A (p.Val954=) rs201119421 0.00006
NM_000212.3(ITGB3):c.*1527A>G rs561828022 0.00005
NM_000419.5(ITGA2B):c.*120T>C rs41385144 0.00005
NM_000212.3(ITGB3):c.*126G>C rs886053089 0.00004
NM_000212.3(ITGB3):c.*12C>T rs763559573 0.00004
NM_000212.3(ITGB3):c.*1331A>G rs142312068 0.00004
NM_000212.3(ITGB3):c.*89G>A rs1252473304 0.00004
NM_000212.3(ITGB3):c.1232C>T (p.Ser411Phe) rs78121013 0.00004
NM_000212.3(ITGB3):c.2331G>A (p.Thr777=) rs566831897 0.00004
NM_000419.5(ITGA2B):c.1383C>T (p.Asn461=) rs367831764 0.00004
NM_000419.5(ITGA2B):c.1820C>T (p.Thr607Met) rs539187844 0.00004
NM_000419.5(ITGA2B):c.1958C>T (p.Pro653Leu) rs375936260 0.00004
NM_000419.5(ITGA2B):c.858C>T (p.Val286=) rs376672078 0.00004
NM_000212.3(ITGB3):c.*1932C>G rs886053097 0.00003
NM_000212.3(ITGB3):c.*758C>G rs886053094 0.00003
NM_000212.3(ITGB3):c.1985G>A (p.Arg662His) rs369443204 0.00003
NM_000419.5(ITGA2B):c.1739T>C (p.Met580Thr) rs768008625 0.00003
NM_000419.5(ITGA2B):c.2471C>G (p.Thr824Ser) rs780567683 0.00003
NM_000419.5(ITGA2B):c.2511G>C (p.Gln837His) rs377753373 0.00003
NM_000419.5(ITGA2B):c.43G>A (p.Glu15Lys) rs779592785 0.00003
NM_000212.3(ITGB3):c.*439C>G rs886053090 0.00002
NM_000212.3(ITGB3):c.*739C>T rs756487158 0.00002
NM_000212.3(ITGB3):c.187C>T (p.Arg63Cys) rs199866795 0.00002
NM_000419.5(ITGA2B):c.3061-4C>T rs530669664 0.00002
NM_000419.5(ITGA2B):c.574+10A>G rs771984157 0.00002
NM_000212.3(ITGB3):c.*1585A>C rs917780047 0.00001
NM_000212.3(ITGB3):c.*2263T>C rs1291399916 0.00001
NM_000212.3(ITGB3):c.1157G>A (p.Arg386His) rs1231109822 0.00001
NM_000212.3(ITGB3):c.1260+11C>T rs752250845 0.00001
NM_000212.3(ITGB3):c.1558G>A (p.Val520Ile) rs750612657 0.00001
NM_000212.3(ITGB3):c.1605C>T (p.His535=) rs757985563 0.00001
NM_000212.3(ITGB3):c.1807G>A (p.Gly603Ser) rs781502355 0.00001
NM_000212.3(ITGB3):c.19C>T (p.Pro7Ser) rs995924582 0.00001
NM_000212.3(ITGB3):c.201G>A (p.Lys67=) rs780479441 0.00001
NM_000212.3(ITGB3):c.261C>G (p.Ala87=) rs747991001 0.00001
NM_000212.3(ITGB3):c.889G>A (p.Gly297Arg) rs756088530 0.00001
NM_000419.5(ITGA2B):c.1217C>T (p.Ala406Val) rs1204070474 0.00001
NM_000419.5(ITGA2B):c.1389C>T (p.Tyr463=) rs148618973 0.00001
NM_000419.5(ITGA2B):c.1537G>A (p.Val513Met) rs112836157 0.00001
NM_000419.5(ITGA2B):c.1606A>C (p.Asn536His) rs779647771 0.00001
NM_000419.5(ITGA2B):c.1753-3T>A rs746932044 0.00001
NM_000419.5(ITGA2B):c.1762G>C (p.Asp588His) rs773196676 0.00001
NM_000419.5(ITGA2B):c.188+7C>T rs774338537 0.00001
NM_000419.5(ITGA2B):c.1888G>A (p.Val630Ile) rs1271568680 0.00001
NM_000419.5(ITGA2B):c.2728-15G>T rs540296465 0.00001
NM_000419.5(ITGA2B):c.625-7C>T rs747504493 0.00001
NM_000212.3(ITGB3):c.*1041T>C rs2065213700
NM_000212.3(ITGB3):c.*1226ATTTT[2] rs886053095
NM_000212.3(ITGB3):c.*1349G>C rs2065214730
NM_000212.3(ITGB3):c.*1804A>G rs886053096
NM_000212.3(ITGB3):c.*185T>G rs2065209331
NM_000212.3(ITGB3):c.*2404T>C rs2065219928
NM_000212.3(ITGB3):c.*553_*555del rs886053091
NM_000212.3(ITGB3):c.*639G>A rs17225109
NM_000212.3(ITGB3):c.*674G>T rs886053092
NM_000212.3(ITGB3):c.*805AAG[1] rs373163926
NM_000212.3(ITGB3):c.*90G>C rs2065208698
NM_000212.3(ITGB3):c.1143A>C (p.Val381=) rs15908
NM_000212.3(ITGB3):c.1143A>T (p.Val381=) rs15908
NM_000212.3(ITGB3):c.1309_1311del (p.Glu437del) rs765171372
NM_000212.3(ITGB3):c.1544G>A (p.Arg515Gln) rs13306487
NM_000212.3(ITGB3):c.1984C>T (p.Arg662Cys) rs151219882
NM_000212.3(ITGB3):c.2328C>T (p.Ala776=) rs563420692
NM_000212.3(ITGB3):c.346C>T (p.Leu116Phe) rs72547409
NM_000212.3(ITGB3):c.362-1G>A rs1567764299
NM_000419.5(ITGA2B):c.*150C>A rs77992265
NM_000419.5(ITGA2B):c.1014G>A (p.Leu338=) rs886053007
NM_000419.5(ITGA2B):c.1357C>T (p.Arg453Ter) rs151179377
NM_000419.5(ITGA2B):c.1815G>A (p.Pro605=) rs5912
NM_000419.5(ITGA2B):c.188+8G>A rs13306471
NM_000419.5(ITGA2B):c.1945G>T (p.Val649Leu) rs7207402
NM_000419.5(ITGA2B):c.230G>A (p.Ser77Asn) rs886053010
NM_000419.5(ITGA2B):c.2311G>T (p.Val771Leu) rs368953599
NM_000419.5(ITGA2B):c.2349-11G>A rs199682503
NM_000419.5(ITGA2B):c.2504C>T (p.Pro835Leu) rs369457651
NM_000419.5(ITGA2B):c.2556G>C (p.Gln852His) rs2048538187
NM_000419.5(ITGA2B):c.2702C>T (p.Ser901Leu) rs2048534441
NM_000419.5(ITGA2B):c.2871G>A (p.Ser957=) rs759462215
NM_000419.5(ITGA2B):c.2963G>A (p.Arg988Gln) rs368536313
NM_000419.5(ITGA2B):c.3090C>G (p.Pro1030=) rs1393382106
NM_000419.5(ITGA2B):c.375G>A (p.Gly125=) rs2048643952
NM_000419.5(ITGA2B):c.560T>C (p.Val187Ala) rs2048639767
NM_000419.5(ITGA2B):c.626C>T (p.Ala209Val) rs143284768
NM_000419.5(ITGA2B):c.628G>C (p.Gly210Arg) rs886053009
NM_000419.5(ITGA2B):c.800G>C (p.Gly267Ala) rs2048627164
NM_000419.5(ITGA2B):c.891+12del rs373578804
NM_000419.5(ITGA2B):c.945+10A>G rs886053008
NM_000419.5(ITGA2B):c.964C>T (p.His322Tyr) rs1376804511

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