ClinVar Miner

List of variants in gene ITGA2B reported as uncertain significance for hematologic disorder

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 271
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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.1005_1013del (p.His335_Leu338delinsGln) rs1598381654
NM_000419.5(ITGA2B):c.1014G>A (p.Leu338=) rs886053007
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.10G>A (p.Ala4Thr)
NM_000419.5(ITGA2B):c.1105C>G (p.His369Asp)
NM_000419.5(ITGA2B):c.1139G>A (p.Gly380Asp)
NM_000419.5(ITGA2B):c.1139G>T (p.Gly380Val) rs766006685
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.1252G>T (p.Gly418Cys)
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+5G>T rs1598385156
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.1947-9T>C
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.2254C>G (p.Leu752Val)
NM_000419.5(ITGA2B):c.2264G>A (p.Arg755Gln)
NM_000419.5(ITGA2B):c.2264G>C (p.Arg755Pro) rs763762304
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.2422G>A (p.Gly808Arg)
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.2507G>C (p.Gly836Ala) rs759664025
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.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.574+5G>A rs1598383011
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)

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