ClinVar Miner

List of variants reported as pathogenic for hematologic disorder by ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 223
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HGVS dbSNP gnomAD frequency
NM_000212.3(ITGB3):c.2248C>T (p.Arg750Ter) rs121918450 0.00016
NM_000419.5(ITGA2B):c.1787T>C (p.Ile596Thr) rs76811038 0.00006
NM_000212.3(ITGB3):c.100C>T (p.Arg34Ter) rs75427428 0.00004
NM_000419.5(ITGA2B):c.3060+2T>C rs74664206 0.00004
NM_000212.3(ITGB3):c.724C>T (p.Arg242Ter) rs758633284 0.00003
NM_000419.5(ITGA2B):c.1652G>A (p.Arg551Gln) rs769405222 0.00003
NM_000212.3(ITGB3):c.428T>G (p.Leu143Trp) rs121918452 0.00002
NM_000419.5(ITGA2B):c.641T>C (p.Leu214Pro) rs137852911 0.00002
NM_000212.3(ITGB3):c.1288C>T (p.Arg430Ter) rs1458116788 0.00001
NM_000212.3(ITGB3):c.1791del (p.Asn597fs) rs780710721 0.00001
NM_000212.3(ITGB3):c.1871G>A (p.Cys624Tyr) rs1181336139 0.00001
NM_000212.3(ITGB3):c.262C>T (p.Arg88Ter) rs1399113954 0.00001
NM_000212.3(ITGB3):c.31T>C (p.Trp11Arg) rs1022839092 0.00001
NM_000212.3(ITGB3):c.431T>G (p.Met144Arg) rs77963874 0.00001
NM_000212.3(ITGB3):c.565C>T (p.Pro189Ser) rs958609406 0.00001
NM_000212.3(ITGB3):c.665T>C (p.Leu222Pro) rs79208797 0.00001
NM_000212.3(ITGB3):c.719G>A (p.Arg240Gln) rs121918444 0.00001
NM_000212.3(ITGB3):c.777+1G>A rs745766760 0.00001
NM_000212.3(ITGB3):c.79+1G>A rs2064977538 0.00001
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.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_000017.11:g.47296304_47307500del
NM_000212.3(ITGB3):c.1030dup (p.Tyr344fs) rs2065118104
NM_000212.3(ITGB3):c.1053_1058del (p.Ile351_Gly353delinsMet)
NM_000212.3(ITGB3):c.1129dup (p.Ile377fs) rs2143109012
NM_000212.3(ITGB3):c.1185del (p.Phe396fs)
NM_000212.3(ITGB3):c.118C>T (p.Gln40Ter)
NM_000212.3(ITGB3):c.1192del (p.Ala398fs) rs2143109249
NM_000212.3(ITGB3):c.1199G>A (p.Cys400Tyr) rs121918449
NM_000212.3(ITGB3):c.121C>T (p.Gln41Ter)
NM_000212.3(ITGB3):c.122_125dup (p.Cys42Ter) rs2065055824
NM_000212.3(ITGB3):c.1300del (p.Gln434fs) rs2143112489
NM_000212.3(ITGB3):c.1303G>T (p.Glu435Ter)
NM_000212.3(ITGB3):c.1309G>T (p.Glu437Ter) rs754250394
NM_000212.3(ITGB3):c.1402G>T (p.Glu468Ter) rs2143112940
NM_000212.3(ITGB3):c.1406dup (p.Pro469_Asn470insTer) rs1567766810
NM_000212.3(ITGB3):c.1409dup (p.Asn470fs) rs1386425657
NM_000212.3(ITGB3):c.1431C>T (p.Gly477=)
NM_000212.3(ITGB3):c.1456del (p.Cys486fs) rs2143113218
NM_000212.3(ITGB3):c.1476G>A (p.Trp492Ter)
NM_000212.3(ITGB3):c.1522del (p.Gln508fs) rs1399789771
NM_000212.3(ITGB3):c.1525C>T (p.Gln509Ter)
NM_000212.3(ITGB3):c.1525del (p.Gln509fs) rs2143113595
NM_000212.3(ITGB3):c.153del (p.Trp51fs) rs2143068680
NM_000212.3(ITGB3):c.1550del (p.Gly517fs) rs1393664515
NM_000212.3(ITGB3):c.1616_1617del (p.Phe539fs)
NM_000212.3(ITGB3):c.161_165+1delinsCTGATT
NM_000212.3(ITGB3):c.1641C>A (p.Cys547Ter) rs185135224
NM_000212.3(ITGB3):c.166-2A>G rs75354240
NM_000212.3(ITGB3):c.1697G>A (p.Gly566Asp) rs2065157059
NM_000212.3(ITGB3):c.1699C>T (p.Gln567Ter) rs1057518837
NM_000212.3(ITGB3):c.1728del (p.Ser577fs) rs2143129755
NM_000212.3(ITGB3):c.1736G>A (p.Trp579Ter) rs2143129828
NM_000212.3(ITGB3):c.1784_1802delinsGTCACA (p.Ser595fs) rs2143129998
NM_000212.3(ITGB3):c.1801T>C (p.Cys601Arg) rs747534508
NM_000212.3(ITGB3):c.1815C>T (p.Gly605=)
NM_000212.3(ITGB3):c.1913+1G>A rs2065158302
NM_000212.3(ITGB3):c.1924G>T (p.Glu642Ter) rs121918451
NM_000212.3(ITGB3):c.1980C>A (p.Tyr660Ter) rs777913442
NM_000212.3(ITGB3):c.1986dup (p.Asp663Ter) rs2143133343
NM_000212.3(ITGB3):c.1990G>T (p.Glu664Ter)
NM_000212.3(ITGB3):c.2014+1G>A rs2065163860
NM_000212.3(ITGB3):c.2031_2041del (p.Asp677fs) rs2143138089
NM_000212.3(ITGB3):c.2068_2069del (p.Val690fs) rs2143138162
NM_000212.3(ITGB3):c.2080C>T (p.Gln694Ter) rs2143138190
NM_000212.3(ITGB3):c.2113del (p.Leu705fs) rs780384800
NM_000212.3(ITGB3):c.2222G>A (p.Trp741Ter)
NM_000212.3(ITGB3):c.224del (p.Cys75fs) rs753932639
NM_000212.3(ITGB3):c.225_226del (p.Ala76fs) rs1438135616
NM_000212.3(ITGB3):c.2301+1G>C
NM_000212.3(ITGB3):c.330_336del (p.Ser110fs)
NM_000212.3(ITGB3):c.361+1G>A rs2143090512
NM_000212.3(ITGB3):c.401del (p.Glu134fs)
NM_000212.3(ITGB3):c.433G>T (p.Asp145Tyr) rs121918445
NM_000212.3(ITGB3):c.444C>G (p.Tyr148Ter) rs887221055
NM_000212.3(ITGB3):c.505C>T (p.Arg169Ter) rs1038392991
NM_000212.3(ITGB3):c.55dup (p.Ala19fs) rs1302506624
NM_000212.3(ITGB3):c.602del (p.Asn201fs)
NM_000212.3(ITGB3):c.613_614+2del rs2143093355
NM_000212.3(ITGB3):c.629G>C (p.Cys210Ser) rs2065102210
NM_000212.3(ITGB3):c.674del (p.Gln225fs) rs2143096900
NM_000212.3(ITGB3):c.709_710del (p.Ser237fs) rs746626039
NM_000212.3(ITGB3):c.725G>A (p.Arg242Gln)
NM_000212.3(ITGB3):c.728A>T (p.Asp243Val) rs2143097053
NM_000212.3(ITGB3):c.756del (p.Met253fs) rs2143097158
NM_000212.3(ITGB3):c.774T>A (p.Cys258Ter) rs2143097219
NM_000212.3(ITGB3):c.774_775del (p.Cys258_Asp259delinsTer) rs2065103002
NM_000212.3(ITGB3):c.792G>A (p.Trp264Ter)
NM_000212.3(ITGB3):c.812dup (p.Leu271fs)
NM_000212.3(ITGB3):c.847_848del (p.Ala283fs)
NM_000212.3(ITGB3):c.861del (p.Arg287fs) rs2143098979
NM_000212.3(ITGB3):c.863T>C (p.Leu288Pro)
NM_000212.3(ITGB3):c.892C>T (p.Gln298Ter) rs2065105940
NM_000212.3(ITGB3):c.921C>A (p.Tyr307Ter) rs2143099209
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.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.131G>T (p.Gly44Val) rs2048678209
NM_000419.5(ITGA2B):c.1357C>T (p.Arg453Ter) rs151179377
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.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.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+471_892-70delinsGCCACCCACAGTGCAATCCCACA
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.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.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.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.2883del (p.Phe961fs) rs1598375779
NM_000419.5(ITGA2B):c.2902del (p.Tyr968fs) rs2143429292
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.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.310+1G>A
NM_000419.5(ITGA2B):c.337C>T (p.Gln113Ter)
NM_000419.5(ITGA2B):c.399C>G (p.Asp133Glu)
NM_000419.5(ITGA2B):c.409-2_419del rs879255508
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.531T>A (p.Cys177Ter) rs79713558
NM_000419.5(ITGA2B):c.539del (p.Asn180fs)
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.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.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.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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