ClinVar Miner

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

Included ClinVar conditions (105):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 103
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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.1772A>C (p.Asp591Ala) rs778608263 0.00003
NM_000419.5(ITGA2B):c.2602-3C>G rs763330792 0.00003
NM_000419.5(ITGA2B):c.1186G>A (p.Asp396Asn) rs1214448436 0.00001
NM_000419.5(ITGA2B):c.1210+105A>G rs992856733 0.00001
NM_000419.5(ITGA2B):c.1361G>A (p.Gly454Asp) rs2048591163 0.00001
NM_000419.5(ITGA2B):c.1946+1G>A rs746091910 0.00001
NM_000419.5(ITGA2B):c.2333A>C (p.Gln778Pro) rs74475415 0.00001
NM_000419.5(ITGA2B):c.526C>G (p.Pro176Ala) rs2048640485 0.00001
NM_000419.5(ITGA2B):c.527C>A (p.Pro176His) rs148327798 0.00001
NM_000419.4:c.(1210+1_1211-1)_(1878+1_1879-1)del
NM_000419.5(ITGA2B):c.1005_1013del (p.His335_Leu338delinsGln) rs1598381654
NM_000419.5(ITGA2B):c.1021G>A (p.Ala341Thr) rs2048616842
NM_000419.5(ITGA2B):c.1139G>A (p.Gly380Asp)
NM_000419.5(ITGA2B):c.1139G>T (p.Gly380Val) rs766006685
NM_000419.5(ITGA2B):c.1201G>T (p.Gly401Cys) rs2048613694
NM_000419.5(ITGA2B):c.1210+5G>A rs2143475577
NM_000419.5(ITGA2B):c.1211-1G>C rs1598380380
NM_000419.5(ITGA2B):c.1234G>A (p.Gly412Arg) rs780786843
NM_000419.5(ITGA2B):c.1259T>C (p.Val420Ala) rs2048592296
NM_000419.5(ITGA2B):c.1346G>A (p.Gly449Asp) rs1598380253
NM_000419.5(ITGA2B):c.1366_1371del (p.Val456_Asp457del) rs780017389
NM_000419.5(ITGA2B):c.138dup (p.Gly47fs) rs2143506473
NM_000419.5(ITGA2B):c.1429G>C (p.Ala477Pro)
NM_000419.5(ITGA2B):c.1545-1G>A
NM_000419.5(ITGA2B):c.1553T>A (p.Ile518Asn)
NM_000419.5(ITGA2B):c.1563T>A (p.Cys521Ter)
NM_000419.5(ITGA2B):c.1753-1G>A rs2048578129
NM_000419.5(ITGA2B):c.188G>A (p.Arg63Lys) rs767688038
NM_000419.5(ITGA2B):c.1946+2T>G
NM_000419.5(ITGA2B):c.1946+3G>T
NM_000419.5(ITGA2B):c.2029G>A (p.Glu677Lys) rs2143450843
NM_000419.5(ITGA2B):c.2063C>T (p.Ala688Val) rs1245816431
NM_000419.5(ITGA2B):c.2095-19T>A rs2143447856
NM_000419.5(ITGA2B):c.212C>G (p.Pro71Arg)
NM_000419.5(ITGA2B):c.2150T>C (p.Leu717Pro) rs2143447451
NM_000419.5(ITGA2B):c.2172G>A (p.Met724Ile) rs2143447323
NM_000419.5(ITGA2B):c.224del (p.Gly75fs) rs1567906131
NM_000419.5(ITGA2B):c.2254C>G (p.Leu752Val)
NM_000419.5(ITGA2B):c.2264G>C (p.Arg755Pro) rs763762304
NM_000419.5(ITGA2B):c.2326_2331dup (p.Glu776_Ala777dup) rs2143440798
NM_000419.5(ITGA2B):c.2344C>T (p.Arg782Ter) rs1598377051
NM_000419.5(ITGA2B):c.2437C>A (p.His813Asn) rs1196551352
NM_000419.5(ITGA2B):c.2444A>G (p.Tyr815Cys) rs2048541187
NM_000419.5(ITGA2B):c.2468G>A (p.Gly823Glu) rs1166506747
NM_000419.5(ITGA2B):c.2478dup (p.Gly827fs)
NM_000419.5(ITGA2B):c.2507G>C (p.Gly836Ala) rs759664025
NM_000419.5(ITGA2B):c.2561dup (p.Leu855fs)
NM_000419.5(ITGA2B):c.2602-2A>G rs2143436505
NM_000419.5(ITGA2B):c.2613del (p.Leu872fs) rs2048535976
NM_000419.5(ITGA2B):c.2800G>T (p.Val934Phe) rs77458039
NM_000419.5(ITGA2B):c.2864T>A (p.Leu955Gln) rs2048524687
NM_000419.5(ITGA2B):c.2898_2902dup (p.Tyr968fs) rs2143429307
NM_000419.5(ITGA2B):c.2929_2930del (p.Glu979fs) rs2143428858
NM_000419.5(ITGA2B):c.2930del (p.Arg977fs) rs2048523431
NM_000419.5(ITGA2B):c.2951C>A (p.Thr984Lys) rs2048521744
NM_000419.5(ITGA2B):c.2965del (p.Ala989fs) rs2048521625
NM_000419.5(ITGA2B):c.2975del (p.Glu992fs) rs1467071163
NM_000419.5(ITGA2B):c.3017dup (p.Gly1007fs) rs1291802895
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.3091del (p.Leu1031fs)
NM_000419.5(ITGA2B):c.3092del (p.Leu1031fs) rs2143417444
NM_000419.5(ITGA2B):c.310+3_310+6del
NM_000419.5(ITGA2B):c.3115_3119dup (p.Ter1040TrpextTer?) rs2048504402
NM_000419.5(ITGA2B):c.416C>T (p.Ala139Val) rs2143489510
NM_000419.5(ITGA2B):c.423G>T (p.Trp141Cys) rs2143489430
NM_000419.5(ITGA2B):c.460_462del (p.Glu154del) rs747956782
NM_000419.5(ITGA2B):c.475G>A (p.Gly159Ser)
NM_000419.5(ITGA2B):c.476G>T (p.Gly159Val) rs2048641442
NM_000419.5(ITGA2B):c.480C>G (p.Ser160Arg) rs1279297832
NM_000419.5(ITGA2B):c.48G>A (p.Trp16Ter)
NM_000419.5(ITGA2B):c.520T>C (p.Tyr174His)
NM_000419.5(ITGA2B):c.527C>T (p.Pro176Leu) rs148327798
NM_000419.5(ITGA2B):c.555T>G (p.Ile185Met) rs2048639927
NM_000419.5(ITGA2B):c.558C>G (p.Tyr186Ter) rs1416238665
NM_000419.5(ITGA2B):c.559del (p.Val187fs) rs1469711487
NM_000419.5(ITGA2B):c.571T>G (p.Phe191Val) rs2048639566
NM_000419.5(ITGA2B):c.574+5G>A rs1598383011
NM_000419.5(ITGA2B):c.574+5G>C rs1598383011
NM_000419.5(ITGA2B):c.59T>G (p.Leu20Arg)
NM_000419.5(ITGA2B):c.601G>A (p.Gly201Ser) rs2048635741
NM_000419.5(ITGA2B):c.620C>T (p.Thr207Ile) rs2143485911
NM_000419.5(ITGA2B):c.641T>G (p.Leu214Arg) rs137852911
NM_000419.5(ITGA2B):c.647C>T (p.Ala216Val) rs2143485154
NM_000419.5(ITGA2B):c.659A>G (p.Tyr220Cys) rs1355838837
NM_000419.5(ITGA2B):c.671-1G>A rs2048632400
NM_000419.5(ITGA2B):c.798G>A (p.Trp266Ter) rs483352692
NM_000419.5(ITGA2B):c.800-1G>A
NM_000419.5(ITGA2B):c.800-2A>G rs2143481938
NM_000419.5(ITGA2B):c.800G>A (p.Gly267Glu) rs2048627164
NM_000419.5(ITGA2B):c.812C>G (p.Ala271Gly) rs2143481840
NM_000419.5(ITGA2B):c.818G>A (p.Gly273Asp) rs137852907
NM_000419.5(ITGA2B):c.842C>T (p.Thr281Ile) rs2143481657
NM_000419.5(ITGA2B):c.857T>A (p.Val286Asp) rs2143480810
NM_000419.5(ITGA2B):c.886G>A (p.Gly296Arg) rs753264426
NM_000419.5(ITGA2B):c.889G>C (p.Ala297Pro) rs531610168
NM_000419.5(ITGA2B):c.953C>T (p.Ser318Leu)
NM_000419.5(ITGA2B):c.959T>C (p.Phe320Ser)
NM_000419.5(ITGA2B):c.961G>T (p.Gly321Trp) rs2048619921
NM_000419.5(ITGA2B):c.962G>T (p.Gly321Val) rs2048619898
NM_000419.5(ITGA2B):c.985G>T (p.Val329Phe) rs2048619428
NM_000419.5(ITGA2B):c.998+1G>C rs1598381778

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