ClinVar Miner

List of variants in gene ITGA2B reported as pathogenic for blood coagulation disease

Included ClinVar conditions (153):
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Gene type:
ClinVar version:
Total variants: 162
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HGVS dbSNP gnomAD frequency
NM_000419.5(ITGA2B):c.1787T>C (p.Ile596Thr) rs76811038 0.00006
NM_000419.5(ITGA2B):c.3060+2T>C rs74664206 0.00004
NM_000419.5(ITGA2B):c.1652G>A (p.Arg551Gln) rs769405222 0.00003
NM_000419.5(ITGA2B):c.2602-3C>G rs763330792 0.00003
NM_000419.5(ITGA2B):c.641T>C (p.Leu214Pro) rs137852911 0.00002
NM_000419.5(ITGA2B):c.1063G>A (p.Glu355Lys) rs137852910 0.00001
NM_000419.5(ITGA2B):c.1186G>A (p.Asp396Asn) rs1214448436 0.00001
NM_000419.5(ITGA2B):c.1214T>C (p.Ile405Thr) rs75622274 0.00001
NM_000419.5(ITGA2B):c.1361G>A (p.Gly454Asp) rs2048591163 0.00001
NM_000419.5(ITGA2B):c.1651C>T (p.Arg551Trp) rs1261397461 0.00001
NM_000419.5(ITGA2B):c.1752+2T>C rs769156315 0.00001
NM_000419.5(ITGA2B):c.1772A>C (p.Asp591Ala) rs778608263 0.00001
NM_000419.5(ITGA2B):c.1913dup (p.Cys639fs) rs75028796 0.00001
NM_000419.5(ITGA2B):c.1946+1G>A rs746091910 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_000419.5(ITGA2B):c.526C>G (p.Pro176Ala) rs2048640485 0.00001
NM_000419.5(ITGA2B):c.574+1G>A rs1291613591 0.00001
NM_000419.5(ITGA2B):c.917dup (p.Arg307fs) rs78321762 0.00001
NC_000017.10:g.(?_42454357)_(42456098_?)del
NC_000017.11:g.44385077del
NM_000419.4(ITGA2B):c.[1787T>C];[439C>G]
NM_000419.5(ITGA2B):c.1028T>C (p.Leu343Pro) rs1476448476
NM_000419.5(ITGA2B):c.1051C>T (p.Arg351Ter) rs1032879686
NM_000419.5(ITGA2B):c.1071dup (p.Arg358fs)
NM_000419.5(ITGA2B):c.1073G>A (p.Arg358His) rs137852908
NM_000419.5(ITGA2B):c.1075_1078del (p.Val359fs) rs2048615633
NM_000419.5(ITGA2B):c.1096C>T (p.Arg366Ter)
NM_000419.5(ITGA2B):c.113del (p.Gln38fs)
NM_000419.5(ITGA2B):c.1156C>T (p.Arg386Ter)
NM_000419.5(ITGA2B):c.1229C>A (p.Pro410His)
NM_000419.5(ITGA2B):c.1230del (p.Tyr411fs)
NM_000419.5(ITGA2B):c.1232dup (p.Tyr411Ter) rs2143465421
NM_000419.5(ITGA2B):c.1233C>A (p.Tyr411Ter) rs779910477
NM_000419.5(ITGA2B):c.1234G>A (p.Gly412Arg) rs780786843
NM_000419.5(ITGA2B):c.1253del (p.Gly418fs) rs2143465205
NM_000419.5(ITGA2B):c.131G>T (p.Gly44Val) rs2048678209
NM_000419.5(ITGA2B):c.1346G>A (p.Gly449Asp) rs1598380253
NM_000419.5(ITGA2B):c.1357C>T (p.Arg453Ter) rs151179377
NM_000419.5(ITGA2B):c.1366_1371del (p.Val456_Asp457del) rs780017389
NM_000419.5(ITGA2B):c.1389C>G (p.Tyr463Ter)
NM_000419.5(ITGA2B):c.138dup (p.Gly47fs) rs2143506473
NM_000419.5(ITGA2B):c.1413C>G (p.Tyr471Ter) rs78218617
NM_000419.5(ITGA2B):c.1423C>T (p.Gln475Ter)
NM_000419.5(ITGA2B):c.1424_1427dup (p.Ala477fs)
NM_000419.5(ITGA2B):c.1440-13_1440-1del rs2048585829
NM_000419.5(ITGA2B):c.1440-1G>A rs1598379928
NM_000419.5(ITGA2B):c.1460_1461insAGGT (p.Ser488fs) rs2143461728
NM_000419.5(ITGA2B):c.1524_1533del (p.Gln508fs)
NM_000419.5(ITGA2B):c.1544+1G>A rs879255509
NM_000419.5(ITGA2B):c.1545-1G>A
NM_000419.5(ITGA2B):c.1545-1del rs2048583710
NM_000419.5(ITGA2B):c.1555C>T (p.Gln519Ter)
NM_000419.5(ITGA2B):c.1590del (p.Gln531fs)
NM_000419.5(ITGA2B):c.1591C>T (p.Gln531Ter)
NM_000419.5(ITGA2B):c.1599_1600del (p.Ser534fs)
NM_000419.5(ITGA2B):c.1600+1G>A
NM_000419.5(ITGA2B):c.1608del (p.Asn536fs) rs2143459811
NM_000419.5(ITGA2B):c.1612G>T (p.Glu538Ter) rs780837520
NM_000419.5(ITGA2B):c.1618C>T (p.Gln540Ter) rs1344768030
NM_000419.5(ITGA2B):c.1618del (p.Gln540fs) rs2048581747
NM_000419.5(ITGA2B):c.1642C>T (p.Gln548Ter)
NM_000419.5(ITGA2B):c.1654del (p.Val552fs)
NM_000419.5(ITGA2B):c.1672C>T (p.Gln558Ter) rs74602141
NM_000419.5(ITGA2B):c.1750C>T (p.Arg584Ter) rs137852906
NM_000419.5(ITGA2B):c.175del (p.Asp59fs)
NM_000419.5(ITGA2B):c.1771dup (p.Asp591fs)
NM_000419.5(ITGA2B):c.1878G>C (p.Gln626His) rs80277041
NM_000419.5(ITGA2B):c.1879-2A>G rs77229108
NM_000419.5(ITGA2B):c.188+1G>A
NM_000419.5(ITGA2B):c.1882C>T (p.Arg628Ter) rs1236922680
NM_000419.5(ITGA2B):c.189-319_236del
NM_000419.5(ITGA2B):c.1899del (p.Cys633fs)
NM_000419.5(ITGA2B):c.1919_1920del (p.Val640fs) rs2143452404
NM_000419.5(ITGA2B):c.1947-2A>G
NM_000419.5(ITGA2B):c.1993C>T (p.Gln665Ter) rs1472992102
NM_000419.5(ITGA2B):c.1999dup (p.Asp667fs)
NM_000419.5(ITGA2B):c.2015del (p.Gly672fs) rs2143451028
NM_000419.5(ITGA2B):c.2094+2T>C rs1555613692
NM_000419.5(ITGA2B):c.2148dup (p.Leu717fs) rs1598377980
NM_000419.5(ITGA2B):c.2153dup (p.Cys718fs) rs2048557642
NM_000419.5(ITGA2B):c.2169del (p.Pro723_Met724insTer) rs2143447351
NM_000419.5(ITGA2B):c.2174del (p.Lys725fs) rs2143447308
NM_000419.5(ITGA2B):c.21_22del (p.Leu8fs) rs2143507418
NM_000419.5(ITGA2B):c.2236G>T (p.Glu746Ter) rs2048550784
NM_000419.5(ITGA2B):c.2255T>G (p.Leu752Arg)
NM_000419.5(ITGA2B):c.2267+1G>T rs2048550327
NM_000419.5(ITGA2B):c.2290del (p.Ser764fs)
NM_000419.5(ITGA2B):c.2338del (p.Glu780fs) rs2143440696
NM_000419.5(ITGA2B):c.2344C>T (p.Arg782Ter) rs1598377051
NM_000419.5(ITGA2B):c.2348+5G>C rs776442328
NM_000419.5(ITGA2B):c.2374del (p.Val792fs)
NM_000419.5(ITGA2B):c.2390del (p.Gly797fs)
NM_000419.5(ITGA2B):c.240_241del (p.Glu80fs) rs2048646560
NM_000419.5(ITGA2B):c.2415_2416del (p.Asp805fs)
NM_000419.5(ITGA2B):c.2421G>A (p.Trp807Ter) rs2143439415
NM_000419.5(ITGA2B):c.2444A>G (p.Tyr815Cys) rs2048541187
NM_000419.5(ITGA2B):c.2444_2445del (p.Thr814_Tyr815insTer) rs2143439241
NM_000419.5(ITGA2B):c.2449-1G>C
NM_000419.5(ITGA2B):c.2459del (p.Asn820fs) rs2143438540
NM_000419.5(ITGA2B):c.245dup (p.Gly83fs) rs2143491610
NM_000419.5(ITGA2B):c.2473_2478delinsTCACCAGGGCCTTCACCTCAGCATCCACCAG (p.Val825fs)
NM_000419.5(ITGA2B):c.2473_2481delinsTCACCTGGTC (p.Val825fs) rs2048539289
NM_000419.5(ITGA2B):c.2555del (p.Gln852fs)
NM_000419.5(ITGA2B):c.2578C>T (p.Gln860Ter) rs2143437407
NM_000419.5(ITGA2B):c.257T>C (p.Leu86Pro) rs1052533574
NM_000419.5(ITGA2B):c.2613del (p.Leu872fs) rs2048535976
NM_000419.5(ITGA2B):c.2637del (p.Ile880fs) rs2048535487
NM_000419.5(ITGA2B):c.266G>A (p.Trp89Ter) rs2048646082
NM_000419.5(ITGA2B):c.2671C>T (p.Gln891Ter) rs200846140
NM_000419.5(ITGA2B):c.2673_2674dup (p.Ile892fs) rs2143435739
NM_000419.5(ITGA2B):c.2674del (p.Ile892fs)
NM_000419.5(ITGA2B):c.2702C>A (p.Ser901Ter)
NM_000419.5(ITGA2B):c.2748_2757del (p.Thr917fs) rs76572092
NM_000419.5(ITGA2B):c.2770C>T (p.Gln924Ter) rs2143432066
NM_000419.5(ITGA2B):c.2870C>T (p.Ser957Leu) rs80002943
NM_000419.5(ITGA2B):c.2883del (p.Phe961fs) rs1598375779
NM_000419.5(ITGA2B):c.2902del (p.Tyr968fs) rs2143429292
NM_000419.5(ITGA2B):c.2915_2916delinsT (p.Pro972fs) rs2048523750
NM_000419.5(ITGA2B):c.2915dup (p.Leu973fs) rs781644489
NM_000419.5(ITGA2B):c.291del (p.Ser98fs) rs2048645725
NM_000419.5(ITGA2B):c.2930del (p.Arg977fs) rs2048523431
NM_000419.5(ITGA2B):c.2941C>T (p.Gln981Ter)
NM_000419.5(ITGA2B):c.2953C>T (p.Gln985Ter) rs2143427792
NM_000419.5(ITGA2B):c.2965del (p.Ala989fs) rs2048521625
NM_000419.5(ITGA2B):c.2975_2979del (p.Glu992fs) rs2048521407
NM_000419.5(ITGA2B):c.2992del (p.Trp998fs) rs1598375578
NM_000419.5(ITGA2B):c.2994G>A (p.Trp998Ter)
NM_000419.5(ITGA2B):c.3060G>A (p.Lys1020=) rs757268030
NM_000419.5(ITGA2B):c.3061-1G>A
NM_000419.5(ITGA2B):c.3076C>T (p.Arg1026Trp) rs766503255
NM_000419.5(ITGA2B):c.3077G>A (p.Arg1026Gln) rs879255514
NM_000419.5(ITGA2B):c.3092_3093dup (p.Glu1032fs) rs2048504826
NM_000419.5(ITGA2B):c.310+1G>A
NM_000419.5(ITGA2B):c.337C>T (p.Gln113Ter)
NM_000419.5(ITGA2B):c.432G>A (p.Trp144Ter) rs2143489377
NM_000419.5(ITGA2B):c.470C>A (p.Pro157His)
NM_000419.5(ITGA2B):c.480del (p.Cys161fs)
NM_000419.5(ITGA2B):c.522C>A (p.Tyr174Ter)
NM_000419.5(ITGA2B):c.531T>A (p.Cys177Ter) rs79713558
NM_000419.5(ITGA2B):c.539del (p.Asn180fs)
NM_000419.5(ITGA2B):c.558C>G (p.Tyr186Ter) rs1416238665
NM_000419.5(ITGA2B):c.559del (p.Val187fs) rs1469711487
NM_000419.5(ITGA2B):c.575-1_575insGGACAA (p.Phe191_Ser192insArgThr)
NM_000419.5(ITGA2B):c.575-2A>T
NM_000419.5(ITGA2B):c.605T>G (p.Phe202Cys)
NM_000419.5(ITGA2B):c.624+2C>A rs2048635467
NM_000419.5(ITGA2B):c.625-1G>A rs2143485431
NM_000419.5(ITGA2B):c.670G>A (p.Gly224Ser)
NM_000419.5(ITGA2B):c.682C>T (p.Gln228Ter) rs2048632227
NM_000419.5(ITGA2B):c.693dup (p.Ala232fs) rs2048632055
NM_000419.5(ITGA2B):c.727del (p.Leu243fs) rs2143484108
NM_000419.5(ITGA2B):c.799+2T>C rs1194700242
NM_000419.5(ITGA2B):c.818G>A (p.Gly273Asp) rs137852907
NM_000419.5(ITGA2B):c.832del (p.Asp278fs)
NM_000419.5(ITGA2B):c.855dup (p.Val286fs)
NM_000419.5(ITGA2B):c.91del (p.Ala31fs) rs2048678902
NM_000419.5(ITGA2B):c.957T>A (p.Tyr319Ter) rs2143478260
NM_000419.5(ITGA2B):c.97A>G (p.Asn33Asp)
NM_000419.5(ITGA2B):c.998+1G>C rs1598381778

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