ClinVar Miner

List of variants studied for Glanzmann thrombasthenia 1

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Total variants: 84
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HGVS dbSNP gnomAD frequency
NM_000419.5(ITGA2B):c.2621T>G (p.Ile874Ser) rs5911 0.38983
NM_000419.5(ITGA2B):c.3063C>T (p.Val1021=) rs5910 0.38791
NM_000419.5(ITGA2B):c.2188-7C>G rs850730 0.38774
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_000419.5(ITGA2B):c.3060+2T>C rs74664206 0.00004
NM_000419.5(ITGA2B):c.2602-3C>G rs763330792 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.2311C>T (p.Pro771Ser) rs766423016 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_000419.5(ITGA2B):c.1063G>A (p.Glu355Lys) rs137852910 0.00001
NM_000419.5(ITGA2B):c.1214T>C (p.Ile405Thr) rs75622274 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.2113T>C (p.Cys705Arg) rs77961246 0.00001
NM_000419.5(ITGA2B):c.2333A>C (p.Gln778Pro) rs74475415 0.00001
NM_000419.5(ITGA2B):c.2417G>A (p.Ser806Asn) rs1189791675 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_000212.3(ITGB3):c.1309G>T (p.Glu437Ter) rs754250394
NM_000212.3(ITGB3):c.1986dup (p.Asp663Ter) rs2143133343
NM_000212.3(ITGB3):c.2216_2217insAGCA (p.Ile740fs) rs2143150604
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.774T>A (p.Cys258Ter) rs2143097219
NM_000419.4:c.(1210+1_1211-1)_(1878+1_1879-1)del
NM_000419.5(ITGA2B):c.1021G>A (p.Ala341Thr) rs2048616842
NM_000419.5(ITGA2B):c.1073G>A (p.Arg358His) rs137852908
NM_000419.5(ITGA2B):c.1210+609C>T
NM_000419.5(ITGA2B):c.1229C>A (p.Pro410His)
NM_000419.5(ITGA2B):c.1234G>A (p.Gly412Arg) rs780786843
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.1375G>A (p.Asp459Asn)
NM_000419.5(ITGA2B):c.138dup (p.Gly47fs) rs2143506473
NM_000419.5(ITGA2B):c.1440-13_1440-1del rs2048585829
NM_000419.5(ITGA2B):c.1544+1G>A rs879255509
NM_000419.5(ITGA2B):c.1545-1G>A
NM_000419.5(ITGA2B):c.1612G>T (p.Glu538Ter) rs780837520
NM_000419.5(ITGA2B):c.1619_1660del (p.Gln540_Leu553del) rs2143459210
NM_000419.5(ITGA2B):c.1624G>A (p.Asp542Asn)
NM_000419.5(ITGA2B):c.1750C>T (p.Arg584Ter) rs137852906
NM_000419.5(ITGA2B):c.176A>G (p.Asp59Gly) rs2143506303
NM_000419.5(ITGA2B):c.1878G>C (p.Gln626His) rs80277041
NM_000419.5(ITGA2B):c.188+484_892-70delinsCAATCCCACA
NM_000419.5(ITGA2B):c.1882C>T (p.Arg628Ter) rs1236922680
NM_000419.5(ITGA2B):c.1946+3G>T
NM_000419.5(ITGA2B):c.205G>A (p.Gly69Ser)
NM_000419.5(ITGA2B):c.2150T>C (p.Leu717Pro) rs2143447451
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.2315C>G (p.Pro772Arg)
NM_000419.5(ITGA2B):c.2422G>A (p.Gly808Arg)
NM_000419.5(ITGA2B):c.2504C>T (p.Pro835Leu) rs369457651
NM_000419.5(ITGA2B):c.2561dup (p.Leu855fs)
NM_000419.5(ITGA2B):c.257T>C (p.Leu86Pro) rs1052533574
NM_000419.5(ITGA2B):c.2637del (p.Ile880fs) rs2048535487
NM_000419.5(ITGA2B):c.266G>A (p.Trp89Ter) rs2048646082
NM_000419.5(ITGA2B):c.2748_2757del (p.Thr917fs) rs76572092
NM_000419.5(ITGA2B):c.2761T>C (p.Cys921Arg)
NM_000419.5(ITGA2B):c.2819T>G (p.Leu940Arg)
NM_000419.5(ITGA2B):c.2870C>T (p.Ser957Leu) rs80002943
NM_000419.5(ITGA2B):c.2946G>A (p.Val982=)
NM_000419.5(ITGA2B):c.2965del (p.Ala989fs) rs2048521625
NM_000419.5(ITGA2B):c.3076C>T (p.Arg1026Trp) rs766503255
NM_000419.5(ITGA2B):c.3092del (p.Leu1031fs) rs2143417444
NM_000419.5(ITGA2B):c.316G>A (p.Glu106Lys)
NM_000419.5(ITGA2B):c.337C>T (p.Gln113Ter)
NM_000419.5(ITGA2B):c.409-2_419del rs879255508
NM_000419.5(ITGA2B):c.409-3C>G rs2143489585
NM_000419.5(ITGA2B):c.480C>G (p.Ser160Arg) rs1279297832
NM_000419.5(ITGA2B):c.533G>C (p.Arg178Pro)
NM_000419.5(ITGA2B):c.558C>G (p.Tyr186Ter) rs1416238665
NM_000419.5(ITGA2B):c.559del (p.Val187fs) rs1469711487
NM_000419.5(ITGA2B):c.59T>G (p.Leu20Arg)
NM_000419.5(ITGA2B):c.670G>A (p.Gly224Ser)
NM_000419.5(ITGA2B):c.700A>G (p.Ile234Val)
NM_000419.5(ITGA2B):c.800-1G>A
NM_000419.5(ITGA2B):c.818G>A (p.Gly273Asp) rs137852907
NM_000419.5(ITGA2B):c.886G>A (p.Gly296Arg) rs753264426
NM_000419.5(ITGA2B):c.985G>T (p.Val329Phe) rs2048619428

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