ClinVar Miner

List of variants in gene ITGA2B reported as uncertain significance for blood platelet disease

Included ClinVar conditions (105):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 262
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000419.5(ITGA2B):c.2965G>A (p.Ala989Thr) rs78165611 0.00065
NM_000419.5(ITGA2B):c.799+15C>T rs374469971 0.00061
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_000419.5(ITGA2B):c.1821G>A (p.Thr607=) rs139878415 0.00031
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_000419.5(ITGA2B):c.118A>G (p.Thr40Ala) rs77120952 0.00019
NM_000419.5(ITGA2B):c.1708G>A (p.Gly570Arg) rs146382550 0.00018
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.457G>A (p.Ala153Thr) rs199641871 0.00014
NM_000419.5(ITGA2B):c.1628G>A (p.Arg543Gln) rs139770734 0.00011
NM_000419.5(ITGA2B):c.1366G>A (p.Val456Ile) rs142111372 0.00009
NM_000419.5(ITGA2B):c.2198C>T (p.Ala733Val) rs201042087 0.00008
NM_000419.5(ITGA2B):c.671-15T>C rs200877591 0.00008
NM_000419.5(ITGA2B):c.1439+8C>T rs371050454 0.00007
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_000419.5(ITGA2B):c.*120T>C rs41385144 0.00005
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_000419.5(ITGA2B):c.1739T>C (p.Met580Thr) rs768008625 0.00003
NM_000419.5(ITGA2B):c.1768C>T (p.Arg590Trp) rs373204738 0.00003
NM_000419.5(ITGA2B):c.2471C>G (p.Thr824Ser) rs780567683 0.00003
NM_000419.5(ITGA2B):c.43G>A (p.Glu15Lys) rs779592785 0.00003
NM_000419.5(ITGA2B):c.1769G>A (p.Arg590Gln) rs747930676 0.00002
NM_000419.5(ITGA2B):c.1879-14A>G rs1186417459 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_000419.5(ITGA2B):c.1043G>A (p.Arg348Gln) rs1060499614 0.00001
NM_000419.5(ITGA2B):c.1210+105A>G rs992856733 0.00001
NM_000419.5(ITGA2B):c.1217C>T (p.Ala406Val) rs1204070474 0.00001
NM_000419.5(ITGA2B):c.1229C>G (p.Pro410Arg) rs773649547 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.1752+5G>A rs530915748 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.2417G>A (p.Ser806Asn) rs1189791675 0.00001
NM_000419.5(ITGA2B):c.2728-15G>T rs540296465 0.00001
NM_000419.5(ITGA2B):c.2728-19T>C rs1350341374 0.00001
NM_000419.5(ITGA2B):c.3099A>T (p.Glu1033Asp) rs757116551 0.00001
NM_000419.5(ITGA2B):c.624+5G>A rs373730428 0.00001
NM_000419.5(ITGA2B):c.625-7C>T rs747504493 0.00001
NM_000419.5(ITGA2B):c.*165T>C rs2143416246
NM_000419.5(ITGA2B):c.1014G>A (p.Leu338=) rs886053007
NM_000419.5(ITGA2B):c.1021G>A (p.Ala341Thr) rs2048616842
NM_000419.5(ITGA2B):c.1022C>T (p.Ala341Val) rs2048616805
NM_000419.5(ITGA2B):c.1072C>T (p.Arg358Cys) rs1026539797
NM_000419.5(ITGA2B):c.1105C>G (p.His369Asp)
NM_000419.5(ITGA2B):c.1139G>A (p.Gly380Asp)
NM_000419.5(ITGA2B):c.1142C>T (p.Thr381Ile) rs2048614738
NM_000419.5(ITGA2B):c.1162G>A (p.Gly388Ser)
NM_000419.5(ITGA2B):c.1184G>T (p.Gly395Val)
NM_000419.5(ITGA2B):c.1192G>T (p.Asp398Tyr) rs746322312
NM_000419.5(ITGA2B):c.1196G>A (p.Arg399Gln)
NM_000419.5(ITGA2B):c.1198G>A (p.Asp400Asn)
NM_000419.5(ITGA2B):c.1210+609C>T
NM_000419.5(ITGA2B):c.1210G>T (p.Asp404Tyr)
NM_000419.5(ITGA2B):c.1211-78A>G
NM_000419.5(ITGA2B):c.1211-9T>G
NM_000419.5(ITGA2B):c.1214T>G (p.Ile405Ser)
NM_000419.5(ITGA2B):c.1220T>G (p.Val407Gly)
NM_000419.5(ITGA2B):c.1232A>G (p.Tyr411Cys)
NM_000419.5(ITGA2B):c.1245T>G (p.Ser415Arg)
NM_000419.5(ITGA2B):c.1271T>G (p.Leu424Arg)
NM_000419.5(ITGA2B):c.1297C>T (p.Arg433Cys)
NM_000419.5(ITGA2B):c.1298G>A (p.Arg433His)
NM_000419.5(ITGA2B):c.1317C>A (p.Asp439Glu)
NM_000419.5(ITGA2B):c.1353C>T (p.Ser451=)
NM_000419.5(ITGA2B):c.1357C>T (p.Arg453Ter) rs151179377
NM_000419.5(ITGA2B):c.1375G>A (p.Asp459Asn)
NM_000419.5(ITGA2B):c.1377T>A (p.Asp459Glu)
NM_000419.5(ITGA2B):c.1378G>C (p.Asp460His)
NM_000419.5(ITGA2B):c.1384G>A (p.Gly462Arg)
NM_000419.5(ITGA2B):c.1392A>G (p.Pro464=)
NM_000419.5(ITGA2B):c.1440-13_1440-1del rs2048585829
NM_000419.5(ITGA2B):c.1440-1G>A rs1598379928
NM_000419.5(ITGA2B):c.1447C>T (p.Pro483Ser)
NM_000419.5(ITGA2B):c.146A>T (p.Gln49Leu)
NM_000419.5(ITGA2B):c.1520C>G (p.Pro507Arg) rs2143461368
NM_000419.5(ITGA2B):c.1551C>A (p.Asn517Lys)
NM_000419.5(ITGA2B):c.1558A>C (p.Met520Leu)
NM_000419.5(ITGA2B):c.1558A>T (p.Met520Leu)
NM_000419.5(ITGA2B):c.1574C>T (p.Thr525Ile)
NM_000419.5(ITGA2B):c.1585A>C (p.Ile529Leu)
NM_000419.5(ITGA2B):c.1616T>G (p.Leu539Arg) rs2048581782
NM_000419.5(ITGA2B):c.1616_1620delinsGGCAC (p.Leu539_Gln540delinsArgHis)
NM_000419.5(ITGA2B):c.1619_1660del (p.Gln540_Leu553del) rs2143459210
NM_000419.5(ITGA2B):c.1620G>C (p.Gln540His) rs2048581681
NM_000419.5(ITGA2B):c.1622T>A (p.Leu541Gln) rs1598379635
NM_000419.5(ITGA2B):c.1624G>A (p.Asp542Asn)
NM_000419.5(ITGA2B):c.1639C>T (p.Arg547Cys)
NM_000419.5(ITGA2B):c.1649G>A (p.Arg550Gln)
NM_000419.5(ITGA2B):c.1666G>T (p.Gly556Cys)
NM_000419.5(ITGA2B):c.1670C>G (p.Ser557Cys)
NM_000419.5(ITGA2B):c.1727G>C (p.Cys576Ser)
NM_000419.5(ITGA2B):c.1729C>A (p.His577Asn)
NM_000419.5(ITGA2B):c.1729C>T (p.His577Tyr)
NM_000419.5(ITGA2B):c.1742C>A (p.Ala581Asp) rs2143458780
NM_000419.5(ITGA2B):c.1751G>A (p.Arg584Gln)
NM_000419.5(ITGA2B):c.1756G>A (p.Glu586Lys)
NM_000419.5(ITGA2B):c.176A>G (p.Asp59Gly) rs2143506303
NM_000419.5(ITGA2B):c.1793T>C (p.Leu598Pro)
NM_000419.5(ITGA2B):c.1833G>A (p.Met611Ile)
NM_000419.5(ITGA2B):c.188+8del rs560275529
NM_000419.5(ITGA2B):c.189-11T>G
NM_000419.5(ITGA2B):c.1912G>A (p.Val638Ile)
NM_000419.5(ITGA2B):c.1922C>T (p.Pro641Leu)
NM_000419.5(ITGA2B):c.1949C>T (p.Thr650Met)
NM_000419.5(ITGA2B):c.1960C>T (p.Leu654Phe)
NM_000419.5(ITGA2B):c.1999G>A (p.Asp667Asn)
NM_000419.5(ITGA2B):c.199G>A (p.Val67Met)
NM_000419.5(ITGA2B):c.2002G>A (p.Ala668Thr)
NM_000419.5(ITGA2B):c.2010C>A (p.Asn670Lys)
NM_000419.5(ITGA2B):c.2016C>T (p.Gly672=)
NM_000419.5(ITGA2B):c.2019G>C (p.Glu673Asp)
NM_000419.5(ITGA2B):c.202G>A (p.Val68Met) rs2048647163
NM_000419.5(ITGA2B):c.2033C>T (p.Ala678Val)
NM_000419.5(ITGA2B):c.2044G>A (p.Val682Met)
NM_000419.5(ITGA2B):c.2045T>A (p.Val682Glu)
NM_000419.5(ITGA2B):c.2051T>G (p.Leu684Arg) rs2143450670
NM_000419.5(ITGA2B):c.2053C>A (p.Pro685Thr)
NM_000419.5(ITGA2B):c.205G>A (p.Gly69Ser)
NM_000419.5(ITGA2B):c.2077G>A (p.Ala693Thr)
NM_000419.5(ITGA2B):c.209C>T (p.Ala70Val)
NM_000419.5(ITGA2B):c.2133T>G (p.Asn711Lys)
NM_000419.5(ITGA2B):c.2150T>C (p.Leu717Pro) rs2143447451
NM_000419.5(ITGA2B):c.2159T>C (p.Leu720Pro) rs2048557572
NM_000419.5(ITGA2B):c.2172GAA[2] (p.Lys726del)
NM_000419.5(ITGA2B):c.2187+6G>T
NM_000419.5(ITGA2B):c.2201T>A (p.Met734Lys)
NM_000419.5(ITGA2B):c.2206G>T (p.Val736Leu)
NM_000419.5(ITGA2B):c.2242G>A (p.Val748Met)
NM_000419.5(ITGA2B):c.2264G>A (p.Arg755Gln)
NM_000419.5(ITGA2B):c.2268-9C>G
NM_000419.5(ITGA2B):c.2291_2292delinsAA (p.Ser764Lys)
NM_000419.5(ITGA2B):c.230G>A (p.Ser77Asn) rs886053010
NM_000419.5(ITGA2B):c.2311G>A (p.Val771Met)
NM_000419.5(ITGA2B):c.2311G>T (p.Val771Leu) rs368953599
NM_000419.5(ITGA2B):c.2315C>G (p.Pro772Arg)
NM_000419.5(ITGA2B):c.2320C>T (p.Arg774Trp)
NM_000419.5(ITGA2B):c.2321G>A (p.Arg774Gln)
NM_000419.5(ITGA2B):c.2330C>A (p.Ala777Asp) rs2048543938
NM_000419.5(ITGA2B):c.2336T>C (p.Val779Ala)
NM_000419.5(ITGA2B):c.2338G>A (p.Glu780Lys)
NM_000419.5(ITGA2B):c.2347G>A (p.Gly783Arg)
NM_000419.5(ITGA2B):c.2349-11G>A rs199682503
NM_000419.5(ITGA2B):c.2377G>A (p.Ala793Thr)
NM_000419.5(ITGA2B):c.2384AAG[1] (p.Glu796del)
NM_000419.5(ITGA2B):c.2396G>C (p.Arg799Thr)
NM_000419.5(ITGA2B):c.2426C>T (p.Pro809Leu)
NM_000419.5(ITGA2B):c.2448+4T>C
NM_000419.5(ITGA2B):c.2480G>T (p.Gly827Val)
NM_000419.5(ITGA2B):c.2489T>G (p.Leu830Arg)
NM_000419.5(ITGA2B):c.248G>A (p.Gly83Asp)
NM_000419.5(ITGA2B):c.2504C>T (p.Pro835Leu) rs369457651
NM_000419.5(ITGA2B):c.2510A>G (p.Gln837Arg)
NM_000419.5(ITGA2B):c.2521T>C (p.Ser841Pro)
NM_000419.5(ITGA2B):c.2540T>C (p.Leu847Pro)
NM_000419.5(ITGA2B):c.2556G>C (p.Gln852His) rs2048538187
NM_000419.5(ITGA2B):c.2568G>T (p.Gln856His)
NM_000419.5(ITGA2B):c.2569T>C (p.Cys857Arg) rs1598376647
NM_000419.5(ITGA2B):c.2570G>T (p.Cys857Phe) rs1242785708
NM_000419.5(ITGA2B):c.2575C>T (p.Pro859Ser)
NM_000419.5(ITGA2B):c.2592C>A (p.Asn864Lys)
NM_000419.5(ITGA2B):c.2602-3C>A rs763330792
NM_000419.5(ITGA2B):c.2660G>A (p.Arg887Gln)
NM_000419.5(ITGA2B):c.2702C>T (p.Ser901Leu) rs2048534441
NM_000419.5(ITGA2B):c.2725G>C (p.Val909Leu)
NM_000419.5(ITGA2B):c.2741C>A (p.Ala914Glu)
NM_000419.5(ITGA2B):c.2747G>A (p.Cys916Tyr)
NM_000419.5(ITGA2B):c.2750C>G (p.Thr917Ser) rs1598376124
NM_000419.5(ITGA2B):c.2761T>C (p.Cys921Arg)
NM_000419.5(ITGA2B):c.2767C>G (p.Leu923Val)
NM_000419.5(ITGA2B):c.2794G>A (p.Ala932Thr)
NM_000419.5(ITGA2B):c.2819T>G (p.Leu940Arg)
NM_000419.5(ITGA2B):c.2841+13_2841+33del
NM_000419.5(ITGA2B):c.2842-1G>C
NM_000419.5(ITGA2B):c.2850G>A (p.Leu950=)
NM_000419.5(ITGA2B):c.2852_2853delinsC (p.Asp951fs) rs2048524745
NM_000419.5(ITGA2B):c.286T>A (p.Cys96Ser)
NM_000419.5(ITGA2B):c.2870C>T (p.Ser957Leu) rs80002943
NM_000419.5(ITGA2B):c.2871G>A (p.Ser957=) rs759462215
NM_000419.5(ITGA2B):c.2915_2916delinsT (p.Pro972fs) rs2048523750
NM_000419.5(ITGA2B):c.2930G>A (p.Arg977Gln)
NM_000419.5(ITGA2B):c.2933G>T (p.Gly978Val)
NM_000419.5(ITGA2B):c.2943+3G>T
NM_000419.5(ITGA2B):c.2946G>A (p.Val982=)
NM_000419.5(ITGA2B):c.2963G>A (p.Arg988Gln) rs368536313
NM_000419.5(ITGA2B):c.2982del (p.Ile995fs) rs2143427606
NM_000419.5(ITGA2B):c.2992del (p.Trp998fs) rs1598375578
NM_000419.5(ITGA2B):c.2993G>T (p.Trp998Leu)
NM_000419.5(ITGA2B):c.3020G>T (p.Gly1007Val) rs2143427279
NM_000419.5(ITGA2B):c.3061-6C>G
NM_000419.5(ITGA2B):c.3061G>T (p.Val1021Phe)
NM_000419.5(ITGA2B):c.3062T>C (p.Val1021Ala) rs2143417795
NM_000419.5(ITGA2B):c.3070T>A (p.Phe1024Ile)
NM_000419.5(ITGA2B):c.3076C>T (p.Arg1026Trp) rs766503255
NM_000419.5(ITGA2B):c.3076_3077delinsGC (p.Arg1026Ala) rs2048505090
NM_000419.5(ITGA2B):c.3077G>A (p.Arg1026Gln) rs879255514
NM_000419.5(ITGA2B):c.3083G>A (p.Arg1028Gln)
NM_000419.5(ITGA2B):c.3090C>G (p.Pro1030=) rs1393382106
NM_000419.5(ITGA2B):c.3092_3093dup (p.Glu1032fs) rs2048504826
NM_000419.5(ITGA2B):c.3101A>T (p.Asp1034Val)
NM_000419.5(ITGA2B):c.316G>A (p.Glu106Lys)
NM_000419.5(ITGA2B):c.318G>C (p.Glu106Asp)
NM_000419.5(ITGA2B):c.322C>A (p.Arg108=) rs1598383383
NM_000419.5(ITGA2B):c.337C>T (p.Gln113Ter)
NM_000419.5(ITGA2B):c.361C>T (p.Arg121Cys)
NM_000419.5(ITGA2B):c.375G>A (p.Gly125=) rs2048643952
NM_000419.5(ITGA2B):c.435C>A (p.Asn145Lys) rs1433566887
NM_000419.5(ITGA2B):c.444A>C (p.Glu148Asp)
NM_000419.5(ITGA2B):c.454G>A (p.Glu152Lys)
NM_000419.5(ITGA2B):c.476G>T (p.Gly159Val) rs2048641442
NM_000419.5(ITGA2B):c.483C>G (p.Cys161Trp)
NM_000419.5(ITGA2B):c.495G>T (p.Gln165His)
NM_000419.5(ITGA2B):c.505G>A (p.Gly169Ser)
NM_000419.5(ITGA2B):c.533G>C (p.Arg178Pro)
NM_000419.5(ITGA2B):c.560T>C (p.Val187Ala) rs2048639767
NM_000419.5(ITGA2B):c.575-10T>A
NM_000419.5(ITGA2B):c.580G>A (p.Asp194Asn) rs1477253720
NM_000419.5(ITGA2B):c.590A>G (p.Tyr197Cys) rs2143486113
NM_000419.5(ITGA2B):c.599C>T (p.Ala200Val)
NM_000419.5(ITGA2B):c.59T>G (p.Leu20Arg)
NM_000419.5(ITGA2B):c.617T>A (p.Val206Asp)
NM_000419.5(ITGA2B):c.624+6T>C
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.637G>A (p.Val213Met)
NM_000419.5(ITGA2B):c.655G>A (p.Gly219Ser)
NM_000419.5(ITGA2B):c.666C>A (p.Phe222Leu)
NM_000419.5(ITGA2B):c.670+6T>G
NM_000419.5(ITGA2B):c.685G>A (p.Ala229Thr)
NM_000419.5(ITGA2B):c.68C>A (p.Pro23His) rs201184269
NM_000419.5(ITGA2B):c.800G>A (p.Gly267Glu) rs2048627164
NM_000419.5(ITGA2B):c.800G>C (p.Gly267Ala) rs2048627164
NM_000419.5(ITGA2B):c.819C>T (p.Gly273=)
NM_000419.5(ITGA2B):c.822G>C (p.Glu274Asp)
NM_000419.5(ITGA2B):c.859G>C (p.Gly287Arg)
NM_000419.5(ITGA2B):c.886G>A (p.Gly296Arg) rs753264426
NM_000419.5(ITGA2B):c.887G>A (p.Gly296Glu)
NM_000419.5(ITGA2B):c.889G>A (p.Ala297Thr)
NM_000419.5(ITGA2B):c.889G>C (p.Ala297Pro) rs531610168
NM_000419.5(ITGA2B):c.891+12del rs373578804
NM_000419.5(ITGA2B):c.892-5T>A
NM_000419.5(ITGA2B):c.89G>A (p.Trp30Ter) rs1131692013
NM_000419.5(ITGA2B):c.902T>C (p.Leu301Ser)
NM_000419.5(ITGA2B):c.91G>A (p.Ala31Thr)
NM_000419.5(ITGA2B):c.941A>G (p.Glu314Gly)
NM_000419.5(ITGA2B):c.945+10A>G rs886053008
NM_000419.5(ITGA2B):c.945+6G>A
NM_000419.5(ITGA2B):c.964C>T (p.His322Tyr) rs1376804511
NM_000419.5(ITGA2B):c.970G>A (p.Val324Met)
NM_000419.5(ITGA2B):c.976G>A (p.Val326Ile)

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.