ClinVar Miner

List of variants in gene ITGB3 reported as pathogenic for blood platelet disease

Included ClinVar conditions (105):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 85
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HGVS dbSNP gnomAD frequency
NM_000212.3(ITGB3):c.100C>T (p.Arg34Ter) rs75427428 0.00004
NM_000212.3(ITGB3):c.724C>T (p.Arg242Ter) rs758633284 0.00003
NM_000212.3(ITGB3):c.428T>G (p.Leu143Trp) rs121918452 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.718C>T (p.Arg240Trp) rs121918446 0.00001
NM_000212.3(ITGB3):c.719G>A (p.Arg240Gln) rs121918444 0.00001
NM_000212.3(ITGB3):c.79+1G>A rs2064977538 0.00001
NG_008332.2:g.48605_58661del
NM_000212.3(ITGB3):c.1030dup (p.Tyr344fs) rs2065118104
NM_000212.3(ITGB3):c.1036-2A>G rs1567765995
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.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.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.165+1G>T rs2143068731
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.1723T>C (p.Cys575Arg)
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.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.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.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>A (p.Asp145Asn) rs121918445
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.448A>G (p.Met150Val) rs767548512
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.615-1G>A
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.740G>A (p.Gly247Asp) rs79560904
NM_000212.3(ITGB3):c.792G>A (p.Trp264Ter)
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_000212.3(ITGB3):c.992A>G (p.Asn331Ser) rs2143105853

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