ClinVar Miner

List of variants studied for Leukocyte adhesion deficiency 1 by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 127
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HGVS dbSNP gnomAD frequency
NM_000211.5(ITGB2):c.1062= (p.His354=) rs235330 0.99991
NM_000211.5(ITGB2):c.1323T>C (p.Val441=) rs235326 0.74399
NM_000211.5(ITGB2):c.1101C>A (p.Val367=) rs2230529 0.23426
NM_000211.5(ITGB2):c.819G>A (p.Gly273=) rs2230528 0.21986
NM_000211.4(ITGB2):c.-111T>C rs2070947 0.21817
NM_000211.5(ITGB2):c.24G>T (p.Leu8=) rs11088969 0.20978
NM_000211.5(ITGB2):c.*122G>A rs684 0.19694
NM_000211.5(ITGB2):c.500-11G>T rs55865320 0.16920
NM_000211.5(ITGB2):c.328+15G>A rs5030668 0.13213
NM_000211.5(ITGB2):c.742-13G>A rs5030670 0.12263
NM_000211.5(ITGB2):c.58+12G>A rs2280965 0.09186
NM_000211.5(ITGB2):c.499+7C>T rs17004715 0.03552
NM_000211.5(ITGB2):c.1893C>T (p.Cys631=) rs17004713 0.01984
NM_000211.5(ITGB2):c.31C>T (p.Leu11=) rs5030667 0.01960
NM_000211.5(ITGB2):c.59-15G>A rs74539155 0.01426
NM_000211.5(ITGB2):c.1657+9G>A rs114479227 0.01380
NM_000211.5(ITGB2):c.117G>A (p.Ser39=) rs35903905 0.01127
NM_000211.5(ITGB2):c.1002C>T (p.Thr334=) rs61737081 0.01093
NM_000211.5(ITGB2):c.329-6C>T rs9983887 0.00876
NM_000211.5(ITGB2):c.1756C>T (p.Arg586Trp) rs5030672 0.00847
NM_000211.5(ITGB2):c.906A>G (p.Pro302=) rs35370671 0.00731
NM_000211.5(ITGB2):c.810G>A (p.Ala270=) rs61737077 0.00555
NM_000211.5(ITGB2):c.1888G>A (p.Glu630Lys) rs2230531 0.00539
NM_000211.5(ITGB2):c.*38T>C rs114632253 0.00491
NM_000211.5(ITGB2):c.*167C>T rs561251271 0.00450
NM_000211.5(ITGB2):c.1026G>C (p.Val342=) rs142185460 0.00418
NM_000211.5(ITGB2):c.1542C>T (p.Cys514=) rs2230530 0.00405
NM_000211.5(ITGB2):c.229G>A (p.Asp77Asn) rs141799330 0.00317
NM_000211.4(ITGB2):c.-107A>T rs572346607 0.00281
NM_000211.5(ITGB2):c.147+9C>T rs199948899 0.00243
NM_000211.5(ITGB2):c.525C>T (p.Thr175=) rs200134130 0.00236
NM_000211.5(ITGB2):c.807C>T (p.Phe269=) rs142381225 0.00235
NM_000211.5(ITGB2):c.*168G>T rs755328937 0.00233
NM_000211.5(ITGB2):c.1172C>T (p.Thr391Met) rs141201564 0.00232
NM_000211.5(ITGB2):c.1635C>T (p.Asn545=) rs61747606 0.00224
NM_000211.5(ITGB2):c.162G>A (p.Pro54=) rs138303556 0.00201
NM_000211.5(ITGB2):c.2058C>G (p.Leu686=) rs117884186 0.00119
NM_000211.5(ITGB2):c.2189G>A (p.Ser730Asn) rs140767058 0.00098
NM_000211.5(ITGB2):c.2050C>T (p.Arg684Cys) rs147238010 0.00084
NM_000211.5(ITGB2):c.732C>T (p.Ala244=) rs146557638 0.00077
NM_000211.5(ITGB2):c.853C>T (p.Arg285Cys) rs137959302 0.00050
NM_000211.5(ITGB2):c.1413-8G>A rs375743879 0.00048
NM_000211.5(ITGB2):c.2145C>T (p.Ile715=) rs144590448 0.00036
NM_000211.5(ITGB2):c.742-15A>G rs199665785 0.00035
NM_000211.4(ITGB2):c.-98T>C rs7280802 0.00029
NM_000211.5(ITGB2):c.1877+12C>T rs200144784 0.00027
NM_000211.5(ITGB2):c.*121C>T rs375146934 0.00026
NM_000211.5(ITGB2):c.1575C>T (p.Pro525=) rs200615045 0.00024
NM_000211.5(ITGB2):c.1697C>T (p.Pro566Leu) rs373223342 0.00024
NM_000211.5(ITGB2):c.847G>A (p.Asp283Asn) rs149483341 0.00024
NM_000211.5(ITGB2):c.-8C>T rs886057120 0.00020
NM_000211.5(ITGB2):c.1146C>T (p.Tyr382=) rs61737080 0.00019
NM_000211.4(ITGB2):c.-228G>A rs915029945 0.00017
NM_000211.5(ITGB2):c.1324C>T (p.Leu442Phe) rs750853525 0.00016
NM_000211.4(ITGB2):c.-101G>A rs1005306661 0.00015
NM_000211.5(ITGB2):c.228C>T (p.Asp76=) rs368629638 0.00015
NM_000211.4(ITGB2):c.-199G>A rs746349537 0.00014
NM_000211.5(ITGB2):c.159G>A (p.Gly53=) rs200150384 0.00014
NM_000211.5(ITGB2):c.2041G>A (p.Gly681Arg) rs778865777 0.00013
NM_000211.5(ITGB2):c.714C>T (p.Asp238=) rs752901414 0.00013
NM_000211.5(ITGB2):c.1969G>A (p.Val657Met) rs376990045 0.00011
NM_000211.5(ITGB2):c.537C>T (p.Phe179=) rs371548080 0.00011
NM_000211.5(ITGB2):c.625A>C (p.Lys209Gln) rs769571214 0.00011
NM_000211.5(ITGB2):c.1725C>T (p.Cys575=) rs373452460 0.00010
NM_000211.5(ITGB2):c.77C>G (p.Thr26Arg) rs148038936 0.00010
NM_000211.5(ITGB2):c.892G>A (p.Glu298Lys) rs368371881 0.00010
NM_000211.5(ITGB2):c.729C>T (p.Val243=) rs199735877 0.00009
NM_000211.5(ITGB2):c.2283C>T (p.Val761=) rs192197684 0.00007
NM_000211.5(ITGB2):c.483C>T (p.Thr161=) rs750060536 0.00007
NM_000211.5(ITGB2):c.-10A>C rs371741629 0.00006
NM_000211.5(ITGB2):c.-39G>A rs886057121 0.00006
NM_000211.5(ITGB2):c.181C>T (p.Arg61Cys) rs375038257 0.00006
NM_000211.5(ITGB2):c.2210G>A (p.Arg737His) rs138714119 0.00006
NM_000211.5(ITGB2):c.681C>T (p.Ser227=) rs369981986 0.00006
NM_000211.5(ITGB2):c.768G>A (p.Thr256=) rs201148219 0.00006
NM_000211.5(ITGB2):c.849C>T (p.Asp283=) rs35013643 0.00006
NM_000211.5(ITGB2):c.854G>A (p.Arg285His) rs769752245 0.00006
NM_000211.5(ITGB2):c.*148C>T rs753098490 0.00005
NM_000211.5(ITGB2):c.*170C>T rs952815585 0.00005
NM_000211.5(ITGB2):c.1320G>C (p.Gln440His) rs138703739 0.00005
NM_000211.5(ITGB2):c.28G>A (p.Ala10Thr) rs201802601 0.00005
NM_000211.5(ITGB2):c.897+14C>A rs374471192 0.00005
NM_000211.4(ITGB2):c.-104C>T rs754249152 0.00004
NM_000211.5(ITGB2):c.808G>A (p.Ala270Thr) rs148775158 0.00004
NM_000211.5(ITGB2):c.2078G>A (p.Arg693Gln) rs200335681 0.00003
NM_000211.5(ITGB2):c.850G>A (p.Gly284Ser) rs137852616 0.00003
NM_000211.5(ITGB2):c.1125C>T (p.Pro375=) rs754762370 0.00002
NM_000211.5(ITGB2):c.1784G>A (p.Arg595Gln) rs750019280 0.00002
NM_000211.5(ITGB2):c.59-9G>A rs141780263 0.00002
NM_000211.5(ITGB2):c.742-5C>G rs542698586 0.00002
NM_000211.5(ITGB2):c.116C>T (p.Ser39Leu) rs368899902 0.00001
NM_000211.5(ITGB2):c.1195G>C (p.Asp399His) rs1381775363 0.00001
NM_000211.5(ITGB2):c.1225-10T>A rs886057118 0.00001
NM_000211.5(ITGB2):c.1630T>C (p.Tyr544His) rs201703437 0.00001
NM_000211.5(ITGB2):c.1688G>A (p.Arg563His) rs550704811 0.00001
NM_000211.5(ITGB2):c.2247+10C>T rs147248229 0.00001
NM_000211.5(ITGB2):c.253G>A (p.Ala85Thr) rs548099370 0.00001
NM_000211.5(ITGB2):c.328+14C>T rs780089604 0.00001
NM_000211.5(ITGB2):c.432G>A (p.Arg144=) rs886057119 0.00001
NM_000211.5(ITGB2):c.528G>C (p.Val176=) rs200639854 0.00001
NM_000211.5(ITGB2):c.*145C>A rs1160263
NM_000211.5(ITGB2):c.*145C>T rs1160263
NM_000211.5(ITGB2):c.*171G>C rs6570
NM_000211.5(ITGB2):c.*289A>G rs541047362
NM_000211.5(ITGB2):c.*370G>T rs117989670
NM_000211.5(ITGB2):c.*403C>T rs886057114
NM_000211.5(ITGB2):c.1084-5C>T rs781696813
NM_000211.5(ITGB2):c.1230C>G (p.Thr410=) rs886057117
NM_000211.5(ITGB2):c.1264C>T (p.Gln422Ter) rs1568883795
NM_000211.5(ITGB2):c.1464G>A (p.Arg488=) rs202051683
NM_000211.5(ITGB2):c.1492C>T (p.Arg498Trp) rs372695770
NM_000211.5(ITGB2):c.1495A>C (p.Lys499Gln) rs2083765900
NM_000211.5(ITGB2):c.1602C>T (p.Cys534=) rs748574145
NM_000211.5(ITGB2):c.1642G>T (p.Val548Phe) rs886057116
NM_000211.5(ITGB2):c.1678G>C (p.Gly560Arg) rs747266748
NM_000211.5(ITGB2):c.1804G>A (p.Glu602Lys) rs145850370
NM_000211.5(ITGB2):c.1849G>T (p.Gly617Cys) rs749135078
NM_000211.5(ITGB2):c.1877+12C>A rs200144784
NM_000211.5(ITGB2):c.1944G>A (p.Pro648=) rs139840790
NM_000211.5(ITGB2):c.1968C>T (p.Pro656=) rs766106686
NM_000211.5(ITGB2):c.2310G>A (p.Ter770=) rs762881198
NM_000211.5(ITGB2):c.328G>C (p.Gly110Arg) rs2084050156
NM_000211.5(ITGB2):c.490G>A (p.Gly164Ser) rs770285096
NM_000211.5(ITGB2):c.54G>A (p.Gly18=) rs372110619
NM_000211.5(ITGB2):c.589G>A (p.Glu197Lys) rs755393167
NM_000211.5(ITGB2):c.591G>A (p.Glu197=) rs768833543
NM_000211.5(ITGB2):c.832A>T (p.Ile278Phe) rs2083934143

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