ClinVar Miner

List of variants reported as likely benign for Glanzmann thrombasthenia

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ClinVar version:
Total variants: 164
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HGVS dbSNP gnomAD frequency
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.439C>G (p.Leu147Val) rs76066357 0.00936
NM_000212.3(ITGB3):c.*1154G>A rs56288308 0.00791
NM_000419.5(ITGA2B):c.2614C>A (p.Leu872Met) rs149468422 0.00662
NM_000419.5(ITGA2B):c.2916G>A (p.Pro972=) rs5913 0.00354
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.557C>T (p.Pro186Leu) rs61736876 0.00221
NM_000212.3(ITGB3):c.*2117G>T rs534143307 0.00198
NM_000212.3(ITGB3):c.970A>G (p.Lys324Glu) rs147263592 0.00096
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_000419.5(ITGA2B):c.207C>T (p.Gly69=) rs375882355 0.00038
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_000419.5(ITGA2B):c.1821G>A (p.Thr607=) rs139878415 0.00031
NM_000212.3(ITGB3):c.285C>T (p.Leu95=) rs151121691 0.00030
NM_000419.5(ITGA2B):c.2449-11C>T rs201702898 0.00026
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_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_000419.5(ITGA2B):c.408+16C>T rs377288289 0.00014
NM_000419.5(ITGA2B):c.*51C>T rs139513907 0.00013
NM_000419.5(ITGA2B):c.2334A>G (p.Gln778=) rs117870452 0.00011
NM_000212.3(ITGB3):c.180C>T (p.Gly60=) rs373101628 0.00008
NM_000419.5(ITGA2B):c.671-15T>C rs200877591 0.00008
NM_000419.5(ITGA2B):c.1413C>T (p.Tyr471=) rs78218617 0.00006
NM_000419.5(ITGA2B):c.2862G>A (p.Val954=) rs201119421 0.00006
NM_000419.5(ITGA2B):c.1210+8A>G rs771317292 0.00005
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.1965A>C (p.Leu655=) rs748671094 0.00004
NM_000419.5(ITGA2B):c.858C>T (p.Val286=) rs376672078 0.00004
NM_000419.5(ITGA2B):c.3061-4C>T rs530669664 0.00002
NM_000419.5(ITGA2B):c.690A>C (p.Pro230=) rs776840984 0.00002
NM_000212.3(ITGB3):c.175C>G (p.Leu59Val) rs2065090622 0.00001
NM_000212.3(ITGB3):c.201G>A (p.Lys67=) rs780479441 0.00001
NM_000419.5(ITGA2B):c.1389C>T (p.Tyr463=) rs148618973 0.00001
NM_000212.3(ITGB3):c.2328C>T (p.Ala776=) rs563420692
NM_000419.5(ITGA2B):c.*150C>A rs77992265
NM_000419.5(ITGA2B):c.1014G>A (p.Leu338=) rs886053007
NM_000419.5(ITGA2B):c.1110G>A (p.Ala370=)
NM_000419.5(ITGA2B):c.1210+19C>T
NM_000419.5(ITGA2B):c.1210+9del
NM_000419.5(ITGA2B):c.1211-10C>T
NM_000419.5(ITGA2B):c.1233C>T (p.Tyr411=)
NM_000419.5(ITGA2B):c.1266G>A (p.Val422=)
NM_000419.5(ITGA2B):c.1374C>G (p.Ile458Met) rs372294932
NM_000419.5(ITGA2B):c.1422C>T (p.Asn474=)
NM_000419.5(ITGA2B):c.1439+20G>A
NM_000419.5(ITGA2B):c.1440-20C>G
NM_000419.5(ITGA2B):c.1544+18A>G
NM_000419.5(ITGA2B):c.1545-17C>A
NM_000419.5(ITGA2B):c.1600+15G>T
NM_000419.5(ITGA2B):c.1601-14G>C
NM_000419.5(ITGA2B):c.1627C>A (p.Arg543=)
NM_000419.5(ITGA2B):c.1632G>A (p.Gln544=)
NM_000419.5(ITGA2B):c.1648C>A (p.Arg550=)
NM_000419.5(ITGA2B):c.1707C>T (p.Gly569=)
NM_000419.5(ITGA2B):c.1716C>T (p.His572=)
NM_000419.5(ITGA2B):c.1752+11G>A
NM_000419.5(ITGA2B):c.1752+4C>T
NM_000419.5(ITGA2B):c.1753-8del
NM_000419.5(ITGA2B):c.1770G>A (p.Arg590=)
NM_000419.5(ITGA2B):c.1878+17A>G
NM_000419.5(ITGA2B):c.1879-31_1879-14dup
NM_000419.5(ITGA2B):c.1879-5del
NM_000419.5(ITGA2B):c.1879-8C>T
NM_000419.5(ITGA2B):c.188+12G>A
NM_000419.5(ITGA2B):c.188+17G>A
NM_000419.5(ITGA2B):c.188+18T>C
NM_000419.5(ITGA2B):c.188+8G>A rs13306471
NM_000419.5(ITGA2B):c.188+8G>C
NM_000419.5(ITGA2B):c.188+8del rs560275529
NM_000419.5(ITGA2B):c.189-7T>A
NM_000419.5(ITGA2B):c.1923C>T (p.Pro641=)
NM_000419.5(ITGA2B):c.1944C>T (p.Ser648=)
NM_000419.5(ITGA2B):c.1947-12_1947-11del
NM_000419.5(ITGA2B):c.2001C>T (p.Asp667=)
NM_000419.5(ITGA2B):c.2016C>T (p.Gly672=)
NM_000419.5(ITGA2B):c.2052G>C (p.Leu684=)
NM_000419.5(ITGA2B):c.2061C>T (p.Gly687=)
NM_000419.5(ITGA2B):c.2064C>T (p.Ala688=)
NM_000419.5(ITGA2B):c.2082A>G (p.Leu694=)
NM_000419.5(ITGA2B):c.2094+7C>T
NM_000419.5(ITGA2B):c.2095-8T>C
NM_000419.5(ITGA2B):c.2139C>T (p.Thr713=) rs1598378000
NM_000419.5(ITGA2B):c.2187+20G>C
NM_000419.5(ITGA2B):c.2188-7C>T
NM_000419.5(ITGA2B):c.2199G>A (p.Ala733=)
NM_000419.5(ITGA2B):c.2348+14G>A
NM_000419.5(ITGA2B):c.2348+17G>T
NM_000419.5(ITGA2B):c.2349-11G>A rs199682503
NM_000419.5(ITGA2B):c.2368C>T (p.Leu790=)
NM_000419.5(ITGA2B):c.2448+16G>A
NM_000419.5(ITGA2B):c.2448+17C>T
NM_000419.5(ITGA2B):c.2520C>T (p.Pro840=)
NM_000419.5(ITGA2B):c.2562C>A (p.Gly854=)
NM_000419.5(ITGA2B):c.2565T>C (p.Leu855=)
NM_000419.5(ITGA2B):c.258G>C (p.Leu86=)
NM_000419.5(ITGA2B):c.2602-17C>G
NM_000419.5(ITGA2B):c.2613G>A (p.Gly871=)
NM_000419.5(ITGA2B):c.2616G>A (p.Leu872=)
NM_000419.5(ITGA2B):c.2646G>A (p.Pro882=)
NM_000419.5(ITGA2B):c.2685A>G (p.Pro895=)
NM_000419.5(ITGA2B):c.2691C>T (p.Pro897=)
NM_000419.5(ITGA2B):c.2727+14C>G
NM_000419.5(ITGA2B):c.2727+19C>T
NM_000419.5(ITGA2B):c.2728-12G>T
NM_000419.5(ITGA2B):c.2728-16C>G
NM_000419.5(ITGA2B):c.2728-20C>T
NM_000419.5(ITGA2B):c.2742G>A (p.Ala914=)
NM_000419.5(ITGA2B):c.2772G>A (p.Gln924=)
NM_000419.5(ITGA2B):c.2817C>T (p.Phe939=)
NM_000419.5(ITGA2B):c.2841+1GTGGG[3]
NM_000419.5(ITGA2B):c.2943+11G>A
NM_000419.5(ITGA2B):c.2943+9G>A
NM_000419.5(ITGA2B):c.2944-17C>T
NM_000419.5(ITGA2B):c.2944-7C>T
NM_000419.5(ITGA2B):c.2946G>A (p.Val982=)
NM_000419.5(ITGA2B):c.2979G>A (p.Arg993=)
NM_000419.5(ITGA2B):c.3000G>C (p.Val1000=)
NM_000419.5(ITGA2B):c.3030G>A (p.Leu1010=)
NM_000419.5(ITGA2B):c.3060+16C>T
NM_000419.5(ITGA2B):c.3060+17G>A
NM_000419.5(ITGA2B):c.3061-13C>T
NM_000419.5(ITGA2B):c.3061-5C>T
NM_000419.5(ITGA2B):c.30C>T (p.Ala10=)
NM_000419.5(ITGA2B):c.310+12G>A
NM_000419.5(ITGA2B):c.310+17G>A
NM_000419.5(ITGA2B):c.351C>T (p.Thr117=)
NM_000419.5(ITGA2B):c.378G>A (p.Ala126=)
NM_000419.5(ITGA2B):c.408+11C>T
NM_000419.5(ITGA2B):c.408+7C>T
NM_000419.5(ITGA2B):c.441A>G (p.Leu147=)
NM_000419.5(ITGA2B):c.513C>G (p.Arg171=)
NM_000419.5(ITGA2B):c.574+15C>T
NM_000419.5(ITGA2B):c.574+20T>C
NM_000419.5(ITGA2B):c.588T>C (p.Arg196=)
NM_000419.5(ITGA2B):c.670+15G>T
NM_000419.5(ITGA2B):c.671-10C>G
NM_000419.5(ITGA2B):c.730T>C (p.Leu244=)
NM_000419.5(ITGA2B):c.786C>T (p.Phe262=)
NM_000419.5(ITGA2B):c.799+20C>T
NM_000419.5(ITGA2B):c.804C>T (p.Tyr268=)
NM_000419.5(ITGA2B):c.891+14C>G
NM_000419.5(ITGA2B):c.891+16A>C
NM_000419.5(ITGA2B):c.892-13G>A
NM_000419.5(ITGA2B):c.892-20C>T
NM_000419.5(ITGA2B):c.946-12C>T
NM_000419.5(ITGA2B):c.966T>C (p.His322=)
NM_000419.5(ITGA2B):c.978C>T (p.Val326=)
NM_000419.5(ITGA2B):c.998+15G>T
NM_000419.5(ITGA2B):c.998+19C>T
NM_000419.5(ITGA2B):c.998+8G>C

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