ClinVar Miner

List of variants in gene ITGB3 studied for blood platelet disease

Included ClinVar conditions (119):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 238
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000212.3(ITGB3):c.1533A>G (p.Glu511=) rs4642 0.28618
NM_000212.3(ITGB3):c.1545G>A (p.Arg515=) rs4634 0.28611
NM_000212.3(ITGB3):c.176T>C (p.Leu59Pro) rs5918 0.12746
NM_000212.3(ITGB3):c.882T>C (p.Pro294=) rs5919 0.10499
NM_000212.3(ITGB3):c.342T>C (p.Ile114=) rs5920 0.01639
NM_000212.3(ITGB3):c.40G>A (p.Val14Met) rs115600591 0.01103
NM_000212.3(ITGB3):c.362-30G>A rs147055245 0.00491
NM_000212.3(ITGB3):c.58C>T (p.Leu20=) rs548495900 0.00345
NM_000212.3(ITGB3):c.57G>T (p.Ala19=) rs534654534 0.00326
NM_000212.3(ITGB3):c.557C>T (p.Pro186Leu) rs61736876 0.00199
NM_000212.3(ITGB3):c.197T>G (p.Leu66Arg) rs36080296 0.00155
NM_000212.3(ITGB3):c.1914-7C>T rs143241865 0.00106
NM_000212.3(ITGB3):c.754A>G (p.Ile252Val) rs56173532 0.00096
NM_000212.3(ITGB3):c.970A>G (p.Lys324Glu) rs147263592 0.00096
NM_000212.3(ITGB3):c.506G>A (p.Arg169Gln) rs5917 0.00091
NM_000212.3(ITGB3):c.2131C>T (p.Pro711Ser) rs138729147 0.00065
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_000212.3(ITGB3):c.1800G>A (p.Leu600=) rs139884210 0.00038
NM_000212.3(ITGB3):c.1902C>T (p.Cys634=) rs149823724 0.00031
NM_000212.3(ITGB3):c.285C>T (p.Leu95=) rs151121691 0.00029
NM_000212.3(ITGB3):c.670G>A (p.Asp224Asn) rs763017753 0.00026
NM_000212.3(ITGB3):c.900T>C (p.His300=) rs376378154 0.00019
NM_000212.3(ITGB3):c.537C>T (p.Phe179=) rs770144031 0.00018
NM_000212.3(ITGB3):c.1960G>A (p.Glu654Lys) rs70940817 0.00017
NM_000212.3(ITGB3):c.1641C>T (p.Cys547=) rs185135224 0.00011
NM_000212.3(ITGB3):c.1984C>T (p.Arg662Cys) rs151219882 0.00010
NM_000212.3(ITGB3):c.62C>T (p.Ala21Val) rs772418775 0.00009
NM_000212.3(ITGB3):c.683G>A (p.Arg228His) rs756689153 0.00009
NM_000212.3(ITGB3):c.985A>G (p.Asn329Asp) rs201550717 0.00009
NM_000212.3(ITGB3):c.180C>T (p.Gly60=) rs373101628 0.00008
NM_000212.3(ITGB3):c.2085C>T (p.Tyr695=) rs373450805 0.00006
NM_000212.3(ITGB3):c.1412G>T (p.Ser471Ile) rs566673492 0.00005
NM_000212.3(ITGB3):c.1459C>T (p.Arg487Cys) rs369140365 0.00005
NM_000212.3(ITGB3):c.263G>A (p.Arg88Gln) rs200358667 0.00005
NM_000212.3(ITGB3):c.356G>A (p.Arg119Gln) rs147782061 0.00005
NM_000212.3(ITGB3):c.598G>A (p.Glu200Lys) rs543887885 0.00005
NM_000212.3(ITGB3):c.100C>T (p.Arg34Ter) rs75427428 0.00004
NM_000212.3(ITGB3):c.1232C>T (p.Ser411Phe) rs78121013 0.00004
NM_000212.3(ITGB3):c.1985G>A (p.Arg662His) rs369443204 0.00003
NM_000212.3(ITGB3):c.724C>T (p.Arg242Ter) rs758633284 0.00003
NM_000212.3(ITGB3):c.85A>G (p.Asn29Asp) rs967611155 0.00003
NM_000212.3(ITGB3):c.187C>T (p.Arg63Cys) rs199866795 0.00002
NM_000212.3(ITGB3):c.428T>G (p.Leu143Trp) rs121918452 0.00002
NM_000212.3(ITGB3):c.1089C>T (p.Ser363=) rs748864401 0.00001
NM_000212.3(ITGB3):c.1157G>A (p.Arg386His) rs1231109822 0.00001
NM_000212.3(ITGB3):c.1260G>A (p.Thr420=) rs74458693 0.00001
NM_000212.3(ITGB3):c.1288C>T (p.Arg430Ter) rs1458116788 0.00001
NM_000212.3(ITGB3):c.1366A>C (p.Thr456Pro) rs1598694640 0.00001
NM_000212.3(ITGB3):c.1558G>A (p.Val520Ile) rs750612657 0.00001
NM_000212.3(ITGB3):c.1594T>C (p.Cys532Arg) rs1397448267 0.00001
NM_000212.3(ITGB3):c.1605C>T (p.His535=) rs757985563 0.00001
NM_000212.3(ITGB3):c.1639T>G (p.Cys547Gly) rs902952044 0.00001
NM_000212.3(ITGB3):c.175C>G (p.Leu59Val) rs2065090622 0.00001
NM_000212.3(ITGB3):c.1791del (p.Asn597fs) rs780710721 0.00001
NM_000212.3(ITGB3):c.1807G>A (p.Gly603Ser) rs781502355 0.00001
NM_000212.3(ITGB3):c.1813G>A (p.Gly605Ser) rs144884023 0.00001
NM_000212.3(ITGB3):c.1818G>T (p.Lys606Asn) rs1156382155 0.00001
NM_000212.3(ITGB3):c.1871G>A (p.Cys624Tyr) rs1181336139 0.00001
NM_000212.3(ITGB3):c.201G>A (p.Lys67=) rs780479441 0.00001
NM_000212.3(ITGB3):c.261C>G (p.Ala87=) rs747991001 0.00001
NM_000212.3(ITGB3):c.262C>T (p.Arg88Ter) rs1399113954 0.00001
NM_000212.3(ITGB3):c.273G>A (p.Glu91=) rs776079585 0.00001
NM_000212.3(ITGB3):c.31T>C (p.Trp11Arg) rs1022839092 0.00001
NM_000212.3(ITGB3):c.349C>T (p.Arg117Trp) rs777748046 0.00001
NM_000212.3(ITGB3):c.353T>A (p.Leu118His) rs368325996 0.00001
NM_000212.3(ITGB3):c.355C>T (p.Arg119Trp) rs781062792 0.00001
NM_000212.3(ITGB3):c.414G>C (p.Val138=) rs146957831 0.00001
NM_000212.3(ITGB3):c.422A>G (p.Tyr141Cys) rs1739770567 0.00001
NM_000212.3(ITGB3):c.431T>G (p.Met144Arg) rs77963874 0.00001
NM_000212.3(ITGB3):c.473A>G (p.Gln158Arg) rs748901429 0.00001
NM_000212.3(ITGB3):c.505C>T (p.Arg169Ter) rs1038392991 0.00001
NM_000212.3(ITGB3):c.538G>A (p.Gly180Arg) rs569479486 0.00001
NM_000212.3(ITGB3):c.565C>T (p.Pro189Ser) rs958609406 0.00001
NM_000212.3(ITGB3):c.567del (p.Tyr190fs) rs758289890 0.00001
NM_000212.3(ITGB3):c.665T>C (p.Leu222Pro) rs79208797 0.00001
NM_000212.3(ITGB3):c.718C>T (p.Arg240Trp) rs121918446 0.00001
NM_000212.3(ITGB3):c.719G>A (p.Arg240Gln) rs121918444 0.00001
NM_000212.3(ITGB3):c.725G>A (p.Arg242Gln) rs377162158 0.00001
NM_000212.3(ITGB3):c.778-2A>G rs749261962 0.00001
NM_000212.3(ITGB3):c.79+1G>A rs2064977538 0.00001
NM_000212.3(ITGB3):c.79G>A (p.Gly27Arg) rs1037047731 0.00001
NM_000212.3(ITGB3):c.889G>A (p.Gly297Arg) rs756088530 0.00001
NM_000212.3(ITGB3):c.917A>C (p.His306Pro) rs13306476 0.00001
NM_000212.3(ITGB3):c.939+1G>T rs987869733 0.00001
NG_008332.2:g.48605_58661del
NM_000212.3(ITGB3):c.1030dup (p.Tyr344fs) rs2065118104
NM_000212.3(ITGB3):c.1031A>C (p.Tyr344Ser) rs2065118116
NM_000212.3(ITGB3):c.1031A>G (p.Tyr344Cys) rs2065118116
NM_000212.3(ITGB3):c.1036-2A>G rs1567765995
NM_000212.3(ITGB3):c.1053_1058del (p.Ile351_Gly353delinsMet) rs2547618014
NM_000212.3(ITGB3):c.1094A>G (p.Asn365Ser) rs2143107081
NM_000212.3(ITGB3):c.1118C>T (p.Ala373Val) rs755059759
NM_000212.3(ITGB3):c.1125+29G>C rs16941829
NM_000212.3(ITGB3):c.1125+3_1125+6del rs76562369
NM_000212.3(ITGB3):c.1129dup (p.Ile377fs) rs2143109012
NM_000212.3(ITGB3):c.1132C>T (p.Arg378Cys) rs774332906
NM_000212.3(ITGB3):c.1143A>C (p.Val381=) rs15908
NM_000212.3(ITGB3):c.1143A>T (p.Val381=) rs15908
NM_000212.3(ITGB3):c.115T>G (p.Cys39Gly) rs1880497383
NM_000212.3(ITGB3):c.1185del (p.Phe396fs) rs2547618403
NM_000212.3(ITGB3):c.118C>T (p.Gln40Ter) rs2547613559
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) rs2547613560
NM_000212.3(ITGB3):c.122_125dup (p.Cys42Ter) rs2065055824
NM_000212.3(ITGB3):c.1260+11C>T rs752250845
NM_000212.3(ITGB3):c.1260+9G>A
NM_000212.3(ITGB3):c.1300del (p.Gln434fs) rs2143112489
NM_000212.3(ITGB3):c.1303G>T (p.Glu435Ter) rs2065129084
NM_000212.3(ITGB3):c.1309G>T (p.Glu437Ter) rs754250394
NM_000212.3(ITGB3):c.1309_1311del (p.Glu437del) rs765171372
NM_000212.3(ITGB3):c.1388G>C (p.Cys463Ser) rs2143112826
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=) rs2547619081
NM_000212.3(ITGB3):c.1448G>A (p.Cys483Tyr) rs2547619090
NM_000212.3(ITGB3):c.1451G>T (p.Gly484Val) rs1485911294
NM_000212.3(ITGB3):c.1456del (p.Cys486fs) rs2143113218
NM_000212.3(ITGB3):c.1458C>G (p.Cys486Trp) rs1255017270
NM_000212.3(ITGB3):c.1476G>A (p.Trp492Ter) rs2143113385
NM_000212.3(ITGB3):c.1495T>C (p.Cys499Arg) rs2143113460
NM_000212.3(ITGB3):c.1522del (p.Gln508fs) rs1399789771
NM_000212.3(ITGB3):c.1525C>T (p.Gln509Ter) rs2143113586
NM_000212.3(ITGB3):c.1525del (p.Gln509fs) rs2143113595
NM_000212.3(ITGB3):c.153del (p.Trp51fs) rs2143068680
NM_000212.3(ITGB3):c.1543del (p.Arg515fs) rs2143113675
NM_000212.3(ITGB3):c.1544G>A (p.Arg515Gln) rs13306487
NM_000212.3(ITGB3):c.1550del (p.Gly517fs) rs1393664515
NM_000212.3(ITGB3):c.1552C>T (p.Gln518Ter)
NM_000212.3(ITGB3):c.155G>T (p.Cys52Phe) rs781627407
NM_000212.3(ITGB3):c.1595G>A (p.Cys532Tyr) rs2065130922
NM_000212.3(ITGB3):c.1595G>T (p.Cys532Phe) rs2065130922
NM_000212.3(ITGB3):c.1616_1617del (p.Phe539fs) rs1555572859
NM_000212.3(ITGB3):c.161_165+1delinsCTGATT rs2547613593
NM_000212.3(ITGB3):c.1640G>A (p.Cys547Tyr) rs2065131166
NM_000212.3(ITGB3):c.1641C>A (p.Cys547Ter) rs185135224
NM_000212.3(ITGB3):c.1641C>G (p.Cys547Trp) rs185135224
NM_000212.3(ITGB3):c.1646G>C (p.Cys549Ser) rs1395325049
NM_000212.3(ITGB3):c.165+1G>T rs2143068731
NM_000212.3(ITGB3):c.1658_1660del (p.Ser553del) rs1378984668
NM_000212.3(ITGB3):c.166-14C>A rs749373796
NM_000212.3(ITGB3):c.166-2A>G rs75354240
NM_000212.3(ITGB3):c.1690G>C (p.Gly564Arg) rs2143114313
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.1702T>C (p.Cys568Arg) rs2065157102
NM_000212.3(ITGB3):c.1703G>A (p.Cys568Tyr) rs2143129695
NM_000212.3(ITGB3):c.1703G>T (p.Cys568Phe) rs2143129695
NM_000212.3(ITGB3):c.1723T>C (p.Cys575Arg) rs2547621015
NM_000212.3(ITGB3):c.1728del (p.Ser577fs) rs2143129755
NM_000212.3(ITGB3):c.1732G>A (p.Asp578Asn) rs141912699
NM_000212.3(ITGB3):c.1736G>A (p.Trp579Ter) rs2143129828
NM_000212.3(ITGB3):c.173del (p.Pro58fs) rs2143089582
NM_000212.3(ITGB3):c.1757G>T (p.Cys586Phe) rs2143129874
NM_000212.3(ITGB3):c.1764G>C (p.Thr588=) rs763874595
NM_000212.3(ITGB3):c.1784_1802delinsGTCACA (p.Ser595fs) rs2143129998
NM_000212.3(ITGB3):c.1794_1817delinsACAT (p.Leu599fs) rs2547621050
NM_000212.3(ITGB3):c.1801T>A (p.Cys601Ser)
NM_000212.3(ITGB3):c.1801T>C (p.Cys601Arg) rs747534508
NM_000212.3(ITGB3):c.1801T>G (p.Cys601Gly) rs747534508
NM_000212.3(ITGB3):c.1814G>A (p.Gly605Asp) rs2143130130
NM_000212.3(ITGB3):c.1815C>T (p.Gly605=) rs2547621060
NM_000212.3(ITGB3):c.1835G>A (p.Cys612Tyr) rs2143130239
NM_000212.3(ITGB3):c.1843A>G (p.Ile615Val) rs768771257
NM_000212.3(ITGB3):c.1913+1G>A rs2065158302
NM_000212.3(ITGB3):c.1913+5G>T rs764779088
NM_000212.3(ITGB3):c.191G>A (p.Cys64Tyr) rs74554539
NM_000212.3(ITGB3):c.1924G>T (p.Glu642Ter) rs121918451
NM_000212.3(ITGB3):c.1955A>T (p.His652Leu) rs780437458
NM_000212.3(ITGB3):c.1975C>T (p.Arg659Cys) rs928021640
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) rs373150039
NM_000212.3(ITGB3):c.2014+1G>A rs2065163860
NM_000212.3(ITGB3):c.2014+5G>A rs2143133455
NM_000212.3(ITGB3):c.2027A>C (p.Lys676Thr) rs2065171992
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.2085C>G (p.Tyr695Ter) rs373450805
NM_000212.3(ITGB3):c.2113del (p.Leu705fs) rs780384800
NM_000212.3(ITGB3):c.2134+1G>C rs398122373
NM_000212.3(ITGB3):c.224del (p.Cys75fs) rs753932639
NM_000212.3(ITGB3):c.225_226del (p.Ala76fs) rs1438135616
NM_000212.3(ITGB3):c.325del (p.Val109fs) rs1567764064
NM_000212.3(ITGB3):c.330_336del (p.Ser110fs) rs2547615939
NM_000212.3(ITGB3):c.346C>T (p.Leu116Phe) rs72547409
NM_000212.3(ITGB3):c.361+1G>A rs2143090512
NM_000212.3(ITGB3):c.362-1G>A rs1567764299
NM_000212.3(ITGB3):c.383T>G (p.Ile128Ser)
NM_000212.3(ITGB3):c.385C>A (p.Gln129Lys) rs281864909
NM_000212.3(ITGB3):c.392G>C (p.Arg131Pro) rs201806801
NM_000212.3(ITGB3):c.401del (p.Glu134fs) rs2547616302
NM_000212.3(ITGB3):c.412G>A (p.Val138Met) rs2065095545
NM_000212.3(ITGB3):c.415G>C (p.Asp139His) rs2143092554
NM_000212.3(ITGB3):c.428T>C (p.Leu143Ser) rs121918452
NM_000212.3(ITGB3):c.433G>A (p.Asp145Asn) rs121918445
NM_000212.3(ITGB3):c.433G>T (p.Asp145Tyr) rs121918445
NM_000212.3(ITGB3):c.437T>C (p.Leu146Pro) rs2065095643
NM_000212.3(ITGB3):c.444C>G (p.Tyr148Ter) rs887221055
NM_000212.3(ITGB3):c.445T>C (p.Ser149Pro) rs2547616334
NM_000212.3(ITGB3):c.448A>G (p.Met150Val) rs767548512
NM_000212.3(ITGB3):c.473A>T (p.Gln158Leu) rs748901429
NM_000212.3(ITGB3):c.487A>C (p.Lys163Gln) rs80115510
NM_000212.3(ITGB3):c.541G>A (p.Ala181Thr) rs763127353
NM_000212.3(ITGB3):c.55del (p.Ala19fs) rs1302506624
NM_000212.3(ITGB3):c.55dup (p.Ala19fs) rs1302506624
NM_000212.3(ITGB3):c.563C>T (p.Ser188Leu) rs143146734
NM_000212.3(ITGB3):c.59T>C (p.Leu20Pro) rs2149057083
NM_000212.3(ITGB3):c.59T>G (p.Leu20Arg) rs2149057083
NM_000212.3(ITGB3):c.602del (p.Asn201fs) rs780043425
NM_000212.3(ITGB3):c.613_614+2del rs2143093355
NM_000212.3(ITGB3):c.614+1G>T rs2065096678
NM_000212.3(ITGB3):c.615-1G>A rs1373910050
NM_000212.3(ITGB3):c.674del (p.Gln225fs) rs2143096900
NM_000212.3(ITGB3):c.709_710del (p.Ser237fs) rs746626039
NM_000212.3(ITGB3):c.727G>C (p.Asp243His) rs1598690937
NM_000212.3(ITGB3):c.728A>T (p.Asp243Val) rs2143097053
NM_000212.3(ITGB3):c.740G>A (p.Gly247Asp) rs79560904
NM_000212.3(ITGB3):c.749A>G (p.Asp250Gly) rs1057518838
NM_000212.3(ITGB3):c.792G>A (p.Trp264Ter) rs1442321434
NM_000212.3(ITGB3):c.861del (p.Arg287fs) rs2143098979
NM_000212.3(ITGB3):c.863T>C (p.Leu288Pro) rs2547617068
NM_000212.3(ITGB3):c.877C>T (p.Gln293Ter) rs1193381168
NM_000212.3(ITGB3):c.887_901del (p.Asp296_His300del) rs1435104438
NM_000212.3(ITGB3):c.892C>T (p.Gln298Ter) rs2065105940
NM_000212.3(ITGB3):c.921C>A (p.Tyr307Ter) rs2143099209
NM_000212.3(ITGB3):c.92G>A (p.Cys31Tyr) rs2547613534
NM_000212.3(ITGB3):c.92_93del (p.Cys31fs) rs2547613531
NM_000212.3(ITGB3):c.940-2A>G rs2065117719
NM_000212.3(ITGB3):c.940G>T (p.Asp314Tyr) rs2065117726
NM_000212.3(ITGB3):c.941A>C (p.Asp314Ala) rs2065117736
NM_000212.3(ITGB3):c.953T>C (p.Leu318Ser) rs1424237752
NM_000212.3(ITGB3):c.961A>C (p.Met321Leu) rs2547617787
NM_000212.3(ITGB3):c.989T>A (p.Ile330Asn) rs2143105830
NM_000212.3(ITGB3):c.992A>G (p.Asn331Ser) rs2143105853

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