ClinVar Miner

List of variants in gene ITGB2 studied for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 727
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HGVS dbSNP gnomAD frequency
NM_000211.5(ITGB2):c.1062= (p.His354=) rs235330 0.99991
NM_000211.5(ITGB2):c.148-1089A>G rs760462 0.87259
NM_000211.5(ITGB2):c.1323T>C (p.Val441=) rs235326 0.74399
NM_000211.5(ITGB2):c.994-47G>A rs2838725 0.24547
NM_000211.5(ITGB2):c.1101C>A (p.Val367=) rs2230529 0.23426
NM_000211.5(ITGB2):c.2248-127G>C rs235375 0.22047
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.147+16A>G rs34580582 0.07739
NM_000211.5(ITGB2):c.148-16G>T rs2072703 0.06628
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.741+19C>T rs73374602 0.00635
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.148-16del rs202011691 0.00529
NM_000211.5(ITGB2):c.148-18C>T rs201512257 0.00526
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.1497G>A (p.Lys499=) rs61747615 0.00193
NM_000211.5(ITGB2):c.1658-19G>A rs200196087 0.00148
NM_000211.5(ITGB2):c.311C>T (p.Thr104Met) rs138682103 0.00121
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.222G>A (p.Ala74=) rs112931116 0.00068
NM_000211.5(ITGB2):c.195G>C (p.Arg65=) rs149429459 0.00061
NM_000211.5(ITGB2):c.1358G>A (p.Ser453Asn) rs138659490 0.00056
NM_000211.5(ITGB2):c.1500C>T (p.Asp500=) rs150380090 0.00056
NM_000211.5(ITGB2):c.853C>T (p.Arg285Cys) rs137959302 0.00050
NM_000211.5(ITGB2):c.1617C>T (p.Ile539=) rs148306562 0.00049
NM_000211.5(ITGB2):c.1413-8G>A rs375743879 0.00048
NM_000211.5(ITGB2):c.358C>T (p.Arg120Trp) rs148031841 0.00041
NM_000211.5(ITGB2):c.994-19T>A rs373068121 0.00038
NM_000211.5(ITGB2):c.2145C>T (p.Ile715=) rs144590448 0.00036
NM_000211.5(ITGB2):c.742-15A>G rs199665785 0.00035
NM_000211.5(ITGB2):c.2025G>A (p.Thr675=) rs369283897 0.00031
NM_000211.5(ITGB2):c.314T>C (p.Leu105Pro) rs145851783 0.00031
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.1224+18G>T rs372885279 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.453C>T (p.Gly151=) rs372501675 0.00021
NM_000211.5(ITGB2):c.-8C>T rs886057120 0.00020
NM_000211.5(ITGB2):c.805T>C (p.Phe269Leu) rs151274588 0.00020
NM_000211.5(ITGB2):c.1146C>T (p.Tyr382=) rs61737080 0.00019
NM_000211.5(ITGB2):c.123C>T (p.Pro41=) rs375907746 0.00019
NM_000211.5(ITGB2):c.1274C>T (p.Ser425Leu) rs375122306 0.00019
NM_000211.5(ITGB2):c.1818C>A (p.Gly606=) rs149858736 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_000211.5(ITGB2):c.1413-16C>T rs370041443 0.00016
NM_000211.4(ITGB2):c.-101G>A rs1005306661 0.00015
NM_000211.5(ITGB2):c.1412+8G>A rs374246622 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.504C>T (p.Phe168=) rs143576179 0.00014
NM_000211.5(ITGB2):c.1247C>T (p.Thr416Met) rs113084585 0.00013
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.963G>A (p.Ala321=) rs144862744 0.00013
NM_000211.5(ITGB2):c.1677C>T (p.Cys559=) rs147719370 0.00012
NM_000211.5(ITGB2):c.828C>T (p.Gly276=) rs147150938 0.00012
NM_000211.5(ITGB2):c.1306A>G (p.Ile436Val) rs142489611 0.00011
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.1176C>T (p.His392=) rs777889637 0.00010
NM_000211.5(ITGB2):c.1725C>T (p.Cys575=) rs373452460 0.00010
NM_000211.5(ITGB2):c.1932C>T (p.Ser644=) rs776351244 0.00010
NM_000211.5(ITGB2):c.327A>G (p.Pro109=) rs199932521 0.00010
NM_000211.5(ITGB2):c.335C>T (p.Ala112Val) rs374494108 0.00010
NM_000211.5(ITGB2):c.51C>T (p.Leu17=) rs768225440 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.1062T>A (p.His354Gln) rs235330 0.00009
NM_000211.5(ITGB2):c.129C>T (p.Cys43=) rs144324839 0.00009
NM_000211.5(ITGB2):c.1569C>T (p.Asp523=) rs761544778 0.00009
NM_000211.5(ITGB2):c.1657+8C>T rs200926893 0.00009
NM_000211.5(ITGB2):c.729C>T (p.Val243=) rs199735877 0.00009
NM_000211.5(ITGB2):c.733G>A (p.Ala245Thr) rs144280462 0.00009
NM_000211.5(ITGB2):c.816C>T (p.Asp272=) rs779979379 0.00009
NM_000211.5(ITGB2):c.909G>A (p.Ser303=) rs753280740 0.00009
NM_000211.5(ITGB2):c.1349G>A (p.Arg450Gln) rs764262758 0.00008
NM_000211.5(ITGB2):c.1650C>T (p.Gly550=) rs142476743 0.00008
NM_000211.5(ITGB2):c.1938G>A (p.Ala646=) rs377713804 0.00008
NM_000211.5(ITGB2):c.499+19del rs5030627 0.00008
NM_000211.5(ITGB2):c.1754C>T (p.Pro585Leu) rs370702628 0.00007
NM_000211.5(ITGB2):c.1848C>T (p.Pro616=) rs562849126 0.00007
NM_000211.5(ITGB2):c.2283C>T (p.Val761=) rs192197684 0.00007
NM_000211.5(ITGB2):c.381C>T (p.Ile127=) rs483352812 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.1023C>T (p.Ala341=) rs765209424 0.00006
NM_000211.5(ITGB2):c.1070A>G (p.Lys357Arg) rs530620955 0.00006
NM_000211.5(ITGB2):c.1412+7C>T rs368194398 0.00006
NM_000211.5(ITGB2):c.1462C>T (p.Arg488Trp) rs766548458 0.00006
NM_000211.5(ITGB2):c.1567G>A (p.Asp523Asn) rs199976562 0.00006
NM_000211.5(ITGB2):c.1570G>A (p.Val524Ile) rs201654243 0.00006
NM_000211.5(ITGB2):c.181C>T (p.Arg61Cys) rs375038257 0.00006
NM_000211.5(ITGB2):c.2128G>A (p.Ala710Thr) rs776689530 0.00006
NM_000211.5(ITGB2):c.2142G>C (p.Leu714=) rs373668784 0.00006
NM_000211.5(ITGB2):c.2149A>G (p.Ile717Val) rs753452987 0.00006
NM_000211.5(ITGB2):c.2210G>A (p.Arg737His) rs138714119 0.00006
NM_000211.5(ITGB2):c.2280G>A (p.Thr760=) rs145385843 0.00006
NM_000211.5(ITGB2):c.275A>G (p.Asn92Ser) rs760545709 0.00006
NM_000211.5(ITGB2):c.681C>T (p.Ser227=) rs369981986 0.00006
NM_000211.5(ITGB2):c.741+8C>T rs111780009 0.00006
NM_000211.5(ITGB2):c.768G>A (p.Thr256=) rs201148219 0.00006
NM_000211.5(ITGB2):c.817G>A (p.Gly273Arg) rs137852618 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.924G>A (p.Ala308=) rs138698694 0.00006
NM_000211.5(ITGB2):c.990C>T (p.Tyr330=) rs141157011 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.112G>A (p.Glu38Lys) rs374031101 0.00005
NM_000211.5(ITGB2):c.1320G>C (p.Gln440His) rs138703739 0.00005
NM_000211.5(ITGB2):c.163G>C (p.Gly55Arg) rs778653538 0.00005
NM_000211.5(ITGB2):c.1878-5C>T rs368159523 0.00005
NM_000211.5(ITGB2):c.194G>A (p.Arg65Gln) rs144806686 0.00005
NM_000211.5(ITGB2):c.2247+19G>A rs372185176 0.00005
NM_000211.5(ITGB2):c.2268C>T (p.Ser756=) rs375931424 0.00005
NM_000211.5(ITGB2):c.28G>A (p.Ala10Thr) rs201802601 0.00005
NM_000211.5(ITGB2):c.618C>T (p.His206=) rs764171169 0.00005
NM_000211.5(ITGB2):c.740C>T (p.Pro247Leu) rs772666841 0.00005
NM_000211.5(ITGB2):c.763G>A (p.Val255Ile) rs200206541 0.00005
NM_000211.5(ITGB2):c.767C>T (p.Thr256Met) rs756545465 0.00005
NM_000211.5(ITGB2):c.795C>T (p.Asp265=) rs372377830 0.00005
NM_000211.5(ITGB2):c.897+14C>A rs374471192 0.00005
NM_000211.5(ITGB2):c.961G>A (p.Ala321Thr) rs377140902 0.00005
NM_000211.4(ITGB2):c.-104C>T rs754249152 0.00004
NM_000211.5(ITGB2):c.1343G>A (p.Arg448Gln) rs149279736 0.00004
NM_000211.5(ITGB2):c.1389C>T (p.Gly463=) rs747649869 0.00004
NM_000211.5(ITGB2):c.1412+11C>A rs752126307 0.00004
NM_000211.5(ITGB2):c.1698G>A (p.Pro566=) rs778557089 0.00004
NM_000211.5(ITGB2):c.1797C>T (p.Asn599=) rs367757540 0.00004
NM_000211.5(ITGB2):c.1877+13G>A rs375419725 0.00004
NM_000211.5(ITGB2):c.1885G>A (p.Ala629Thr) rs200894474 0.00004
NM_000211.5(ITGB2):c.1937C>T (p.Ala646Val) rs201413647 0.00004
NM_000211.5(ITGB2):c.2107G>A (p.Ala703Thr) rs1045859276 0.00004
NM_000211.5(ITGB2):c.221C>T (p.Ala74Val) rs201354221 0.00004
NM_000211.5(ITGB2):c.359G>A (p.Arg120Gln) rs371519127 0.00004
NM_000211.5(ITGB2):c.45C>A (p.Leu15=) rs748182004 0.00004
NM_000211.5(ITGB2):c.493C>T (p.Arg165Cys) rs759935924 0.00004
NM_000211.5(ITGB2):c.500-3C>T rs376484884 0.00004
NM_000211.5(ITGB2):c.57C>T (p.Cys19=) rs533892661 0.00004
NM_000211.5(ITGB2):c.657C>T (p.Thr219=) rs146745379 0.00004
NM_000211.5(ITGB2):c.663C>T (p.Val221=) rs552709121 0.00004
NM_000211.5(ITGB2):c.750C>T (p.Ile250=) rs944565426 0.00004
NM_000211.5(ITGB2):c.762C>T (p.Asn254=) rs749472241 0.00004
NM_000211.5(ITGB2):c.796G>A (p.Gly266Ser) rs764894987 0.00004
NM_000211.5(ITGB2):c.808G>A (p.Ala270Thr) rs148775158 0.00004
NM_000211.5(ITGB2):c.897+1G>A rs201752283 0.00004
NM_000211.5(ITGB2):c.898-19C>T rs985549493 0.00004
NM_000211.5(ITGB2):c.101G>A (p.Arg34Gln) rs140032296 0.00003
NM_000211.5(ITGB2):c.1215C>A (p.Ile405=) rs145655011 0.00003
NM_000211.5(ITGB2):c.1275G>A (p.Ser425=) rs768557225 0.00003
NM_000211.5(ITGB2):c.1515C>T (p.Ile505=) rs779515705 0.00003
NM_000211.5(ITGB2):c.1590C>T (p.Tyr530=) rs143914741 0.00003
NM_000211.5(ITGB2):c.1658-10C>T rs377760671 0.00003
NM_000211.5(ITGB2):c.1658-9G>A rs775683352 0.00003
NM_000211.5(ITGB2):c.1678G>A (p.Gly560Arg) rs747266748 0.00003
NM_000211.5(ITGB2):c.1715C>T (p.Ala572Val) rs773732447 0.00003
NM_000211.5(ITGB2):c.1726G>A (p.Glu576Lys) rs145507744 0.00003
NM_000211.5(ITGB2):c.1755G>A (p.Pro585=) rs546962855 0.00003
NM_000211.5(ITGB2):c.1778G>A (p.Arg593His) rs749255547 0.00003
NM_000211.5(ITGB2):c.1788C>T (p.Cys596=) rs374307028 0.00003
NM_000211.5(ITGB2):c.178A>G (p.Ile60Val) rs781730372 0.00003
NM_000211.5(ITGB2):c.182G>A (p.Arg61His) rs752119939 0.00003
NM_000211.5(ITGB2):c.1943C>T (p.Pro648Leu) rs373963624 0.00003
NM_000211.5(ITGB2):c.2004G>C (p.Glu668Asp) rs565042973 0.00003
NM_000211.5(ITGB2):c.2051G>A (p.Arg684His) rs780361764 0.00003
NM_000211.5(ITGB2):c.2078G>A (p.Arg693Gln) rs200335681 0.00003
NM_000211.5(ITGB2):c.2106C>T (p.Ala702=) rs766199035 0.00003
NM_000211.5(ITGB2):c.252C>T (p.Leu84=) rs375749691 0.00003
NM_000211.5(ITGB2):c.260C>G (p.Thr87Ser) rs754994927 0.00003
NM_000211.5(ITGB2):c.474C>T (p.Asn158=) rs753440204 0.00003
NM_000211.5(ITGB2):c.513C>T (p.Phe171=) rs372174688 0.00003
NM_000211.5(ITGB2):c.602C>T (p.Pro201Leu) rs372179082 0.00003
NM_000211.5(ITGB2):c.699C>T (p.Pro233=) rs369682384 0.00003
NM_000211.5(ITGB2):c.741+12G>A rs778868090 0.00003
NM_000211.5(ITGB2):c.829G>A (p.Ala277Thr) rs752291593 0.00003
NM_000211.5(ITGB2):c.850G>A (p.Gly284Ser) rs137852616 0.00003
NM_000211.5(ITGB2):c.1024G>A (p.Val342Met) rs759487369 0.00002
NM_000211.5(ITGB2):c.1084-14C>T rs2083821799 0.00002
NM_000211.5(ITGB2):c.1117G>A (p.Ala373Thr) rs752903416 0.00002
NM_000211.5(ITGB2):c.1125C>T (p.Pro375=) rs754762370 0.00002
NM_000211.5(ITGB2):c.1165G>A (p.Gly389Arg) rs372510204 0.00002
NM_000211.5(ITGB2):c.1223C>T (p.Pro408Leu) rs763860990 0.00002
NM_000211.5(ITGB2):c.1302G>A (p.Thr434=) rs757330899 0.00002
NM_000211.5(ITGB2):c.1314C>T (p.Thr438=) rs1181135718 0.00002
NM_000211.5(ITGB2):c.1335T>C (p.Cys445=) rs762391130 0.00002
NM_000211.5(ITGB2):c.1566C>T (p.Ser522=) rs750588799 0.00002
NM_000211.5(ITGB2):c.1611C>T (p.Asp537=) rs940347605 0.00002
NM_000211.5(ITGB2):c.1641G>A (p.Gln547=) rs767772567 0.00002
NM_000211.5(ITGB2):c.1655C>T (p.Pro552Leu) rs201000019 0.00002
NM_000211.5(ITGB2):c.1665G>T (p.Gly555=) rs990368825 0.00002
NM_000211.5(ITGB2):c.172G>A (p.Asp58Asn) rs1439079846 0.00002
NM_000211.5(ITGB2):c.1760G>A (p.Arg587His) rs772406915 0.00002
NM_000211.5(ITGB2):c.176C>T (p.Ser59Phe) rs1038389954 0.00002
NM_000211.5(ITGB2):c.1784G>A (p.Arg595Gln) rs750019280 0.00002
NM_000211.5(ITGB2):c.1803C>T (p.Cys601=) rs373900883 0.00002
NM_000211.5(ITGB2):c.1959G>A (p.Ser653=) rs545524615 0.00002
NM_000211.5(ITGB2):c.2027T>A (p.Leu676Gln) rs986681121 0.00002
NM_000211.5(ITGB2):c.2070del (p.Asp690fs) rs1466186480 0.00002
NM_000211.5(ITGB2):c.213G>C (p.Arg71Ser) rs371854500 0.00002
NM_000211.5(ITGB2):c.2295G>C (p.Lys765Asn) rs750477817 0.00002
NM_000211.5(ITGB2):c.342G>A (p.Ala114=) rs746169231 0.00002
NM_000211.5(ITGB2):c.353C>A (p.Thr118Asn) rs758449686 0.00002
NM_000211.5(ITGB2):c.475G>A (p.Glu159Lys) rs765779500 0.00002
NM_000211.5(ITGB2):c.499+19A>G rs1016992186 0.00002
NM_000211.5(ITGB2):c.499+20G>A rs754986099 0.00002
NM_000211.5(ITGB2):c.533C>T (p.Pro178Leu) rs137852614 0.00002
NM_000211.5(ITGB2):c.563G>A (p.Arg188Gln) rs1053155608 0.00002
NM_000211.5(ITGB2):c.59-9G>A rs141780263 0.00002
NM_000211.5(ITGB2):c.634A>G (p.Asn212Asp) rs376609171 0.00002
NM_000211.5(ITGB2):c.643A>G (p.Asn215Asp) rs770505759 0.00002
NM_000211.5(ITGB2):c.741+9G>A rs530354496 0.00002
NM_000211.5(ITGB2):c.742-5C>G rs542698586 0.00002
NM_000211.5(ITGB2):c.80A>G (p.Lys27Arg) rs568718880 0.00002
NM_000211.5(ITGB2):c.994-15C>T rs780003137 0.00002
NM_000211.5(ITGB2):c.1003G>A (p.Glu335Lys) rs762699337 0.00001
NM_000211.5(ITGB2):c.100C>T (p.Arg34Trp) rs775878305 0.00001
NM_000211.5(ITGB2):c.1083T>C (p.Asn361=) rs536046546 0.00001
NM_000211.5(ITGB2):c.1116C>T (p.Asn372=) rs201278836 0.00001
NM_000211.5(ITGB2):c.1126G>A (p.Asp376Asn) rs371120443 0.00001
NM_000211.5(ITGB2):c.116C>T (p.Ser39Leu) rs368899902 0.00001
NM_000211.5(ITGB2):c.1173G>A (p.Thr391=) rs747895476 0.00001
NM_000211.5(ITGB2):c.1179G>C (p.Arg393Ser) rs1162085262 0.00001
NM_000211.5(ITGB2):c.1187C>T (p.Pro396Leu) rs998582323 0.00001
NM_000211.5(ITGB2):c.1195G>C (p.Asp399His) rs1381775363 0.00001
NM_000211.5(ITGB2):c.1207G>A (p.Val403Met) rs779705397 0.00001
NM_000211.5(ITGB2):c.1219G>A (p.Val407Ile) rs1342077214 0.00001
NM_000211.5(ITGB2):c.1224G>A (p.Pro408=) rs777120738 0.00001
NM_000211.5(ITGB2):c.1225-10T>A rs886057118 0.00001
NM_000211.5(ITGB2):c.1286G>A (p.Arg429Gln) rs775531955 0.00001
NM_000211.5(ITGB2):c.1342C>T (p.Arg448Trp) rs532267693 0.00001
NM_000211.5(ITGB2):c.1344G>A (p.Arg448=) rs900467466 0.00001
NM_000211.5(ITGB2):c.1379A>G (p.His460Arg) rs201739251 0.00001
NM_000211.5(ITGB2):c.1410C>T (p.Cys470=) rs753427314 0.00001
NM_000211.5(ITGB2):c.1412+12G>A rs764561793 0.00001
NM_000211.5(ITGB2):c.1424G>A (p.Gly475Asp) rs1460164455 0.00001
NM_000211.5(ITGB2):c.1430T>C (p.Ile477Thr) rs376491409 0.00001
NM_000211.5(ITGB2):c.1435A>G (p.Lys479Glu) rs946605387 0.00001
NM_000211.5(ITGB2):c.1473G>C (p.Gln491His) rs1052256139 0.00001
NM_000211.5(ITGB2):c.1493G>A (p.Arg498Gln) rs369318947 0.00001
NM_000211.5(ITGB2):c.1571T>C (p.Val524Ala) rs764061135 0.00001
NM_000211.5(ITGB2):c.1576G>A (p.Gly526Ser) rs745512221 0.00001
NM_000211.5(ITGB2):c.1630T>C (p.Tyr544His) rs201703437 0.00001
NM_000211.5(ITGB2):c.1658-14G>C rs2083753957 0.00001
NM_000211.5(ITGB2):c.1658-16C>G rs371215784 0.00001
NM_000211.5(ITGB2):c.1658-18T>C rs1259939944 0.00001
NM_000211.5(ITGB2):c.1687C>T (p.Arg563Cys) rs777922680 0.00001
NM_000211.5(ITGB2):c.1688G>A (p.Arg563His) rs550704811 0.00001
NM_000211.5(ITGB2):c.1757G>A (p.Arg586Gln) rs921337956 0.00001
NM_000211.5(ITGB2):c.1762G>A (p.Val588Ile) rs748258747 0.00001
NM_000211.5(ITGB2):c.1777C>T (p.Arg593Cys) rs137852609 0.00001
NM_000211.5(ITGB2):c.1850G>A (p.Gly617Asp) rs1023125903 0.00001
NM_000211.5(ITGB2):c.1861C>G (p.Pro621Ala) rs1278051736 0.00001
NM_000211.5(ITGB2):c.187G>A (p.Asp63Asn) rs758534687 0.00001
NM_000211.5(ITGB2):c.1903G>A (p.Glu635Lys) rs758504990 0.00001
NM_000211.5(ITGB2):c.1904A>T (p.Glu635Val) rs374132330 0.00001
NM_000211.5(ITGB2):c.1934C>T (p.Ala645Val) rs371045998 0.00001
NM_000211.5(ITGB2):c.1958C>T (p.Ser653Leu) rs899349769 0.00001
NM_000211.5(ITGB2):c.2024C>T (p.Thr675Met) rs778278328 0.00001
NM_000211.5(ITGB2):c.2073G>C (p.Glu691Asp) rs879017906 0.00001
NM_000211.5(ITGB2):c.2077C>T (p.Arg693Ter) rs2083734400 0.00001
NM_000211.5(ITGB2):c.2104G>A (p.Ala702Thr) rs540038454 0.00001
NM_000211.5(ITGB2):c.2113G>A (p.Val705Ile) rs373065825 0.00001
NM_000211.5(ITGB2):c.2119G>T (p.Gly707Cys) rs1338483196 0.00001
NM_000211.5(ITGB2):c.2125G>A (p.Val709Met) rs775809970 0.00001
NM_000211.5(ITGB2):c.2132G>T (p.Gly711Val) rs771201581 0.00001
NM_000211.5(ITGB2):c.2141T>C (p.Leu714Pro) rs1261871346 0.00001
NM_000211.5(ITGB2):c.2172G>A (p.Lys724=) rs750002294 0.00001
NM_000211.5(ITGB2):c.2247+10C>T rs147248229 0.00001
NM_000211.5(ITGB2):c.2247+11G>A rs369454546 0.00001
NM_000211.5(ITGB2):c.2247T>C (p.Asn749=) rs773262146 0.00001
NM_000211.5(ITGB2):c.235A>G (p.Met79Val) rs932194440 0.00001
NM_000211.5(ITGB2):c.246A>T (p.Thr82=) rs778365550 0.00001
NM_000211.5(ITGB2):c.253G>A (p.Ala85Thr) rs548099370 0.00001
NM_000211.5(ITGB2):c.2T>A (p.Met1Lys) rs387906411 0.00001
NM_000211.5(ITGB2):c.302A>G (p.Gln101Arg) rs763707922 0.00001
NM_000211.5(ITGB2):c.322C>A (p.Arg108=) rs772471533 0.00001
NM_000211.5(ITGB2):c.328+14C>T rs780089604 0.00001
NM_000211.5(ITGB2):c.329-2dup rs758945566 0.00001
NM_000211.5(ITGB2):c.349G>A (p.Val117Met) rs777688420 0.00001
NM_000211.5(ITGB2):c.369G>A (p.Lys123=) rs1319975985 0.00001
NM_000211.5(ITGB2):c.382G>A (p.Asp128Asn) rs137852615 0.00001
NM_000211.5(ITGB2):c.400G>A (p.Asp134Asn) rs745917556 0.00001
NM_000211.5(ITGB2):c.432G>A (p.Arg144=) rs886057119 0.00001
NM_000211.5(ITGB2):c.464G>A (p.Arg155Gln) rs778870549 0.00001
NM_000211.5(ITGB2):c.489C>T (p.Ser163=) rs775889701 0.00001
NM_000211.5(ITGB2):c.501C>T (p.Gly167=) rs756942297 0.00001
NM_000211.5(ITGB2):c.514G>A (p.Val172Met) rs2083962040 0.00001
NM_000211.5(ITGB2):c.528G>C (p.Val176=) rs200639854 0.00001
NM_000211.5(ITGB2):c.562C>T (p.Arg188Ter) rs148877937 0.00001
NM_000211.5(ITGB2):c.603G>A (p.Pro201=) rs761727899 0.00001
NM_000211.5(ITGB2):c.621G>A (p.Val207=) rs763210504 0.00001
NM_000211.5(ITGB2):c.630G>T (p.Leu210=) rs759527254 0.00001
NM_000211.5(ITGB2):c.702G>A (p.Glu234=) rs747079516 0.00001
NM_000211.5(ITGB2):c.711G>A (p.Leu237=) rs763149142 0.00001
NM_000211.5(ITGB2):c.718A>G (p.Met240Val) rs1601305422 0.00001
NM_000211.5(ITGB2):c.742-19C>T rs1255921482 0.00001
NM_000211.5(ITGB2):c.742-6T>C rs1340864224 0.00001
NM_000211.5(ITGB2):c.770G>A (p.Arg257Gln) rs1482665972 0.00001
NM_000211.5(ITGB2):c.809C>T (p.Ala270Val) rs147318988 0.00001
NM_000211.5(ITGB2):c.813C>T (p.Gly271=) rs768750631 0.00001
NM_000211.5(ITGB2):c.814G>A (p.Asp272Asn) rs749335770 0.00001
NM_000211.5(ITGB2):c.840C>T (p.Thr280=) rs2083933927 0.00001
NM_000211.5(ITGB2):c.846C>T (p.Asn282=) rs767870813 0.00001
NM_000211.5(ITGB2):c.858T>C (p.Cys286=) rs1418591638 0.00001
NM_000211.5(ITGB2):c.897C>T (p.Phe299=) rs150327269 0.00001
NM_000211.5(ITGB2):c.898-10C>T rs779504886 0.00001
NM_000211.5(ITGB2):c.908C>T (p.Ser303Leu) rs758627354 0.00001
NM_000211.5(ITGB2):c.918G>C (p.Gln306His) rs541510772 0.00001
NM_000211.5(ITGB2):c.956T>C (p.Ile319Thr) rs1601299390 0.00001
NM_000211.5(ITGB2):c.993+6T>A rs1374911814 0.00001
NC_000021.8:g.(?_46309171)_(46310157_?)del
NM_000211.4(ITGB2):c.[576dupC];[706G>A]
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.*219AGG[1] rs772191268
NM_000211.5(ITGB2):c.*289A>G rs541047362
NM_000211.5(ITGB2):c.*349del rs145404701
NM_000211.5(ITGB2):c.*370G>T rs117989670
NM_000211.5(ITGB2):c.*403C>T rs886057114
NM_000211.5(ITGB2):c.*56_*59dup rs886057115
NM_000211.5(ITGB2):c.1026G>T (p.Val342=)
NM_000211.5(ITGB2):c.1030G>T (p.Glu344Ter) rs483352816
NM_000211.5(ITGB2):c.1034T>C (p.Leu345Pro) rs1460516188
NM_000211.5(ITGB2):c.1035G>A (p.Leu345=) rs2083842930
NM_000211.5(ITGB2):c.1052A>G (p.Asn351Ser) rs137852613
NM_000211.5(ITGB2):c.1057del (p.Val353fs) rs2146511363
NM_000211.5(ITGB2):c.106T>G (p.Cys36Gly) rs2084111337
NM_000211.5(ITGB2):c.1081A>C (p.Asn361His) rs2083842316
NM_000211.5(ITGB2):c.1083+11C>G rs375358624
NM_000211.5(ITGB2):c.1083+11C>T
NM_000211.5(ITGB2):c.1083+12G>A
NM_000211.5(ITGB2):c.1083+15C>T rs2146511234
NM_000211.5(ITGB2):c.1083+20C>T
NM_000211.5(ITGB2):c.1083+7C>A rs867075981
NM_000211.5(ITGB2):c.1084-15G>A rs376782094
NM_000211.5(ITGB2):c.1084-16C>T
NM_000211.5(ITGB2):c.1084-4G>T rs747141875
NM_000211.5(ITGB2):c.1084-5C>T rs781696813
NM_000211.5(ITGB2):c.1084-6C>T
NM_000211.5(ITGB2):c.1105C>A (p.Leu369Met) rs2146508445
NM_000211.5(ITGB2):c.1112A>T (p.His371Leu) rs2083821185
NM_000211.5(ITGB2):c.1125C>G (p.Pro375=)
NM_000211.5(ITGB2):c.1130_1131delinsTT (p.Thr377Ile)
NM_000211.5(ITGB2):c.1138G>C (p.Val380Leu) rs1273615785
NM_000211.5(ITGB2):c.1143del (p.Tyr382fs) rs483352817
NM_000211.5(ITGB2):c.1159A>C (p.Ser387Arg)
NM_000211.5(ITGB2):c.1168_1180del (p.Val390fs)
NM_000211.5(ITGB2):c.1176C>G (p.His392Gln)
NM_000211.5(ITGB2):c.1177A>G (p.Arg393Gly) rs2083819691
NM_000211.5(ITGB2):c.1202A>G (p.Asp401Gly)
NM_000211.5(ITGB2):c.1205G>A (p.Gly402Asp) rs2146508200
NM_000211.5(ITGB2):c.1206C>T (p.Gly402=) rs753706143
NM_000211.5(ITGB2):c.120G>A (p.Gly40=)
NM_000211.5(ITGB2):c.120del (p.Gly42fs)
NM_000211.5(ITGB2):c.1212G>A (p.Gln404=) rs756174661
NM_000211.5(ITGB2):c.121C>T (p.Pro41Ser) rs2146546214
NM_000211.5(ITGB2):c.1221C>T (p.Val407=)
NM_000211.5(ITGB2):c.1224+16A>G
NM_000211.5(ITGB2):c.1224+5G>A rs2146508114
NM_000211.5(ITGB2):c.1225-3C>T
NM_000211.5(ITGB2):c.1225-4G>A
NM_000211.5(ITGB2):c.1230C>G (p.Thr410=) rs886057117
NM_000211.5(ITGB2):c.1239G>A (p.Val413=)
NM_000211.5(ITGB2):c.1248G>A (p.Thr416=)
NM_000211.5(ITGB2):c.124G>A (p.Gly42Ser)
NM_000211.5(ITGB2):c.124G>T (p.Gly42Cys) rs552407409
NM_000211.5(ITGB2):c.1264C>T (p.Gln422Ter) rs1568883795
NM_000211.5(ITGB2):c.1275G>C (p.Ser425=) rs768557225
NM_000211.5(ITGB2):c.1275del (p.Phe426fs)
NM_000211.5(ITGB2):c.1281C>T (p.Val427=)
NM_000211.5(ITGB2):c.1286G>C (p.Arg429Pro) rs775531955
NM_000211.5(ITGB2):c.1290G>A (p.Ala430=)
NM_000211.5(ITGB2):c.1290G>T (p.Ala430=) rs767645617
NM_000211.5(ITGB2):c.1301C>T (p.Thr434Met) rs147537677
NM_000211.5(ITGB2):c.1315G>A (p.Val439Met)
NM_000211.5(ITGB2):c.1319A>C (p.Gln440Pro)
NM_000211.5(ITGB2):c.1319A>G (p.Gln440Arg)
NM_000211.5(ITGB2):c.131C>T (p.Thr44Ile) rs1601322083
NM_000211.5(ITGB2):c.1321G>A (p.Val441Ile)
NM_000211.5(ITGB2):c.1323_1324delinsCT (p.Leu442Phe) rs1555854770
NM_000211.5(ITGB2):c.1332G>T (p.Gln444His) rs767850773
NM_000211.5(ITGB2):c.1366C>T (p.Arg456Cys) rs146014032
NM_000211.5(ITGB2):c.1367G>A (p.Arg456His)
NM_000211.5(ITGB2):c.1367dup (p.Ser457fs) rs2146504324
NM_000211.5(ITGB2):c.137G>T (p.Cys46Phe)
NM_000211.5(ITGB2):c.1380T>C (p.His460=) rs142565171
NM_000211.5(ITGB2):c.1382G>C (p.Gly461Ala) rs1451408184
NM_000211.5(ITGB2):c.1390T>G (p.Phe464Val) rs1601287199
NM_000211.5(ITGB2):c.1392C>G (p.Phe464Leu)
NM_000211.5(ITGB2):c.1398G>A (p.Glu466=) rs2146504220
NM_000211.5(ITGB2):c.13C>A (p.Arg5Ser) rs61737078
NM_000211.5(ITGB2):c.13C>T (p.Arg5Cys) rs61737078
NM_000211.5(ITGB2):c.1401C>T (p.Cys467=)
NM_000211.5(ITGB2):c.1405A>G (p.Ile469Val) rs2146504186
NM_000211.5(ITGB2):c.1412+13C>G
NM_000211.5(ITGB2):c.1413-14C>T
NM_000211.5(ITGB2):c.1413-17G>A
NM_000211.5(ITGB2):c.1413-18G>C
NM_000211.5(ITGB2):c.1413-4C>G
NM_000211.5(ITGB2):c.1413-6C>A rs905822395
NM_000211.5(ITGB2):c.1419C>T (p.Asp473=)
NM_000211.5(ITGB2):c.1434G>A (p.Gly478=)
NM_000211.5(ITGB2):c.1458G>A (p.Gln486=)
NM_000211.5(ITGB2):c.1461C>T (p.Gly487=) rs2146500458
NM_000211.5(ITGB2):c.1464G>A (p.Arg488=) rs202051683
NM_000211.5(ITGB2):c.1467C>G (p.Ser489Arg) rs2146500437
NM_000211.5(ITGB2):c.147+11C>T
NM_000211.5(ITGB2):c.1471C>T (p.Gln491Ter)
NM_000211.5(ITGB2):c.1477C>T (p.Leu493=)
NM_000211.5(ITGB2):c.148-12C>T rs2146539219
NM_000211.5(ITGB2):c.148-16G>A rs2072703
NM_000211.5(ITGB2):c.148-18C>G rs201512257
NM_000211.5(ITGB2):c.148-8C>G
NM_000211.5(ITGB2):c.1491C>A (p.Cys497Ter) rs774228764
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.1507T>A (p.Ser503Thr) rs1568882038
NM_000211.5(ITGB2):c.1507T>C (p.Ser503Pro)
NM_000211.5(ITGB2):c.1513A>G (p.Ile505Val) rs2083765269
NM_000211.5(ITGB2):c.151T>A (p.Phe51Ile)
NM_000211.5(ITGB2):c.1537_1538del (p.Val513fs) rs1230903176
NM_000211.5(ITGB2):c.156A>C (p.Thr52=)
NM_000211.5(ITGB2):c.1570G>T (p.Val524Phe)
NM_000211.5(ITGB2):c.1575C>G (p.Pro525=) rs200615045
NM_000211.5(ITGB2):c.1576_1581del (p.Gly526_Lys527del) rs2083763778
NM_000211.5(ITGB2):c.15C>T (p.Arg5=)
NM_000211.5(ITGB2):c.1602C>A (p.Cys534Ter) rs748574145
NM_000211.5(ITGB2):c.1602C>T (p.Cys534=) rs748574145
NM_000211.5(ITGB2):c.1608T>C (p.Cys536=)
NM_000211.5(ITGB2):c.1619A>G (p.Asn540Ser)
NM_000211.5(ITGB2):c.1628G>A (p.Arg543His)
NM_000211.5(ITGB2):c.1636G>A (p.Gly546Ser) rs1052752055
NM_000211.5(ITGB2):c.1642G>T (p.Val548Phe) rs886057116
NM_000211.5(ITGB2):c.1644C>T (p.Val548=) rs2146499793
NM_000211.5(ITGB2):c.1648G>A (p.Gly550Ser)
NM_000211.5(ITGB2):c.1651G>A (p.Gly551Ser)
NM_000211.5(ITGB2):c.1656G>A (p.Pro552=) rs759039359
NM_000211.5(ITGB2):c.1656G>C (p.Pro552=) rs759039359
NM_000211.5(ITGB2):c.1657+13G>T
NM_000211.5(ITGB2):c.1657+1G>T rs2146499719
NM_000211.5(ITGB2):c.1658-20C>G
NM_000211.5(ITGB2):c.1658-20C>T
NM_000211.5(ITGB2):c.1659G>A (p.Gly553=)
NM_000211.5(ITGB2):c.1666C>T (p.Leu556Phe)
NM_000211.5(ITGB2):c.1678G>C (p.Gly560Arg) rs747266748
NM_000211.5(ITGB2):c.1694A>T (p.His565Leu) rs965990834
NM_000211.5(ITGB2):c.169C>A (p.Pro57Thr) rs1401782366
NM_000211.5(ITGB2):c.1700G>T (p.Gly567Val) rs754953540
NM_000211.5(ITGB2):c.1709G>A (p.Gly570Asp) rs2083752823
NM_000211.5(ITGB2):c.1710C>A (p.Gly570=) rs766014139
NM_000211.5(ITGB2):c.1710C>T (p.Gly570=) rs766014139
NM_000211.5(ITGB2):c.1711T>G (p.Ser571Ala) rs1006758335
NM_000211.5(ITGB2):c.1716G>A (p.Ala572=) rs767238034
NM_000211.5(ITGB2):c.1716G>C (p.Ala572=) rs767238034
NM_000211.5(ITGB2):c.1759del (p.Arg587fs) rs2146498117
NM_000211.5(ITGB2):c.175T>A (p.Ser59Thr)
NM_000211.5(ITGB2):c.1764T>A (p.Val588=) rs2083751658
NM_000211.5(ITGB2):c.1782C>T (p.Gly594=)
NM_000211.5(ITGB2):c.1790G>A (p.Arg597His)
NM_000211.5(ITGB2):c.1798G>A (p.Val600Ile)
NM_000211.5(ITGB2):c.1800A>G (p.Val600=)
NM_000211.5(ITGB2):c.1804G>A (p.Glu602Lys) rs145850370
NM_000211.5(ITGB2):c.1809C>T (p.Cys603=) rs370765614
NM_000211.5(ITGB2):c.1815A>G (p.Ser605=)
NM_000211.5(ITGB2):c.1828C>T (p.Pro610Ser) rs2083749841
NM_000211.5(ITGB2):c.1835G>T (p.Cys612Phe) rs2083749716
NM_000211.5(ITGB2):c.1849G>A (p.Gly617Ser)
NM_000211.5(ITGB2):c.1849G>T (p.Gly617Cys) rs749135078
NM_000211.5(ITGB2):c.185del (p.Cys62fs)
NM_000211.5(ITGB2):c.1862C>T (p.Pro621Leu) rs2083748907
NM_000211.5(ITGB2):c.186C>A (p.Cys62Ter)
NM_000211.5(ITGB2):c.1877+12C>A rs200144784
NM_000211.5(ITGB2):c.1877+18_1877+70del rs2083747036
NM_000211.5(ITGB2):c.1877+20G>T
NM_000211.5(ITGB2):c.1877+2T>C rs483352818
NM_000211.5(ITGB2):c.1877+4A>T rs2146497740
NM_000211.5(ITGB2):c.1878-10C>T
NM_000211.5(ITGB2):c.1878-16A>G
NM_000211.5(ITGB2):c.1878-45dup rs35293792
NM_000211.5(ITGB2):c.1878-4G>A
NM_000211.5(ITGB2):c.187G>C (p.Asp63His) rs758534687
NM_000211.5(ITGB2):c.1880C>G (p.Ser627Cys) rs964332173
NM_000211.5(ITGB2):c.1884C>T (p.Cys628=) rs778582904
NM_000211.5(ITGB2):c.1887C>T (p.Ala629=) rs1019533391
NM_000211.5(ITGB2):c.1902C>T (p.Phe634=)
NM_000211.5(ITGB2):c.1907del (p.Lys636fs) rs483352819
NM_000211.5(ITGB2):c.1908G>C (p.Lys636Asn) rs1601281049
NM_000211.5(ITGB2):c.1912C>T (p.Pro638Ser)
NM_000211.5(ITGB2):c.1933G>A (p.Ala645Thr) rs142112499
NM_000211.5(ITGB2):c.1933G>T (p.Ala645Ser) rs142112499
NM_000211.5(ITGB2):c.193C>T (p.Arg65Trp)
NM_000211.5(ITGB2):c.1944G>A (p.Pro648=) rs139840790
NM_000211.5(ITGB2):c.1948C>T (p.Leu650=) rs2146496153
NM_000211.5(ITGB2):c.1959_1960insTC (p.Asn654fs) rs1568879914
NM_000211.5(ITGB2):c.195G>A (p.Arg65=) rs149429459
NM_000211.5(ITGB2):c.1968C>A (p.Pro656=) rs766106686
NM_000211.5(ITGB2):c.1968C>G (p.Pro656=)
NM_000211.5(ITGB2):c.1968C>T (p.Pro656=) rs766106686
NM_000211.5(ITGB2):c.1982C>T (p.Thr661Ile) rs2083736727
NM_000211.5(ITGB2):c.1983C>A (p.Thr661=)
NM_000211.5(ITGB2):c.198A>G (p.Pro66=)
NM_000211.5(ITGB2):c.1995G>A (p.Arg665=)
NM_000211.5(ITGB2):c.19C>G (p.Pro7Ala) rs753110953
NM_000211.5(ITGB2):c.2014G>T (p.Val672Leu)
NM_000211.5(ITGB2):c.2029G>A (p.Glu677Lys)
NM_000211.5(ITGB2):c.2036del (p.Gln679fs) rs1227331406
NM_000211.5(ITGB2):c.203T>G (p.Leu68Arg)
NM_000211.5(ITGB2):c.2040C>T (p.Asp680=)
NM_000211.5(ITGB2):c.2051_2055dup (p.Leu686fs) rs2083735130
NM_000211.5(ITGB2):c.2052C>T (p.Arg684=)
NM_000211.5(ITGB2):c.2058C>T (p.Leu686=) rs117884186
NM_000211.5(ITGB2):c.2078G>C (p.Arg693Pro) rs200335681
NM_000211.5(ITGB2):c.2080+17G>A
NM_000211.5(ITGB2):c.2080+6G>C rs1044311307
NM_000211.5(ITGB2):c.2080+8C>T
NM_000211.5(ITGB2):c.2080+9G>A rs201448757
NM_000211.5(ITGB2):c.2080+9G>T
NM_000211.5(ITGB2):c.2081-20G>T rs2146491546
NM_000211.5(ITGB2):c.2088G>C (p.Val696=)
NM_000211.5(ITGB2):c.2090C>T (p.Ala697Val)
NM_000211.5(ITGB2):c.20C>A (p.Pro7Gln) rs759479855
NM_000211.5(ITGB2):c.2103C>A (p.Ile701=)
NM_000211.5(ITGB2):c.2103C>T (p.Ile701=)
NM_000211.5(ITGB2):c.2112C>T (p.Ile704=) rs760386808
NM_000211.5(ITGB2):c.2115C>G (p.Val705=)
NM_000211.5(ITGB2):c.2115C>T (p.Val705=)
NM_000211.5(ITGB2):c.2116G>A (p.Gly706Arg) rs202203340
NM_000211.5(ITGB2):c.2120G>C (p.Gly707Ala) rs2146491308
NM_000211.5(ITGB2):c.2121C>A (p.Gly707=) rs138050043
NM_000211.5(ITGB2):c.2154C>G (p.Leu718=) rs2146491179
NM_000211.5(ITGB2):c.218G>A (p.Cys73Tyr)
NM_000211.5(ITGB2):c.2190C>T (p.Ser730=)
NM_000211.5(ITGB2):c.2198G>A (p.Arg733Gln)
NM_000211.5(ITGB2):c.2200G>T (p.Glu734Ter) rs1464015799
NM_000211.5(ITGB2):c.2211C>T (p.Arg737=)
NM_000211.5(ITGB2):c.2247+10C>A rs147248229
NM_000211.5(ITGB2):c.2247+11G>C
NM_000211.5(ITGB2):c.2247+13C>T
NM_000211.5(ITGB2):c.2247+20G>C
NM_000211.5(ITGB2):c.2247+57C>T rs33973568
NM_000211.5(ITGB2):c.2247+7G>T rs2146490954
NM_000211.5(ITGB2):c.2247+8del rs2146490948
NM_000211.5(ITGB2):c.2248-15T>C
NM_000211.5(ITGB2):c.2248-20C>T
NM_000211.5(ITGB2):c.2248-20_2248-19del
NM_000211.5(ITGB2):c.2269G>A (p.Ala757Thr) rs1421408165
NM_000211.5(ITGB2):c.2277G>A (p.Thr759=)
NM_000211.5(ITGB2):c.2277G>C (p.Thr759=) rs200448015
NM_000211.5(ITGB2):c.2285T>G (p.Met762Arg)
NM_000211.5(ITGB2):c.228C>A (p.Asp76Glu) rs368629638
NM_000211.5(ITGB2):c.229G>T (p.Asp77Tyr) rs141799330
NM_000211.5(ITGB2):c.2302G>C (p.Glu768Gln)
NM_000211.5(ITGB2):c.2310G>A (p.Ter770=) rs762881198
NM_000211.5(ITGB2):c.234C>A (p.Ile78=)
NM_000211.5(ITGB2):c.239del (p.Asp80fs)
NM_000211.5(ITGB2):c.242C>G (p.Pro81Arg) rs2146538855
NM_000211.5(ITGB2):c.248G>A (p.Ser83Asn)
NM_000211.5(ITGB2):c.260C>T (p.Thr87Ile) rs754994927
NM_000211.5(ITGB2):c.261C>G (p.Thr87=) rs1271614618
NM_000211.5(ITGB2):c.263A>G (p.Gln88Arg)
NM_000211.5(ITGB2):c.27C>T (p.Leu9=)
NM_000211.5(ITGB2):c.281G>A (p.Gly94Asp) rs761719553
NM_000211.5(ITGB2):c.289C>A (p.Gln97Lys) rs2146538713
NM_000211.5(ITGB2):c.295del (p.Ser99fs)
NM_000211.5(ITGB2):c.305_306del (p.Lys102fs) rs2146538658
NM_000211.5(ITGB2):c.30C>A (p.Ala10=) rs1254960152
NM_000211.5(ITGB2):c.312G>A (p.Thr104=) rs769522397
NM_000211.5(ITGB2):c.312G>T (p.Thr104=) rs769522397
NM_000211.5(ITGB2):c.318C>T (p.Tyr106=) rs1352092716
NM_000211.5(ITGB2):c.321G>A (p.Leu107=)
NM_000211.5(ITGB2):c.322C>T (p.Arg108Ter) rs772471533
NM_000211.5(ITGB2):c.323G>A (p.Arg108Gln) rs550007417
NM_000211.5(ITGB2):c.328+10G>A
NM_000211.5(ITGB2):c.328+15G>T rs5030668
NM_000211.5(ITGB2):c.328+18G>T
NM_000211.5(ITGB2):c.328G>C (p.Gly110Arg) rs2084050156
NM_000211.5(ITGB2):c.329-12C>G rs2146532025
NM_000211.5(ITGB2):c.329-36_452del
NM_000211.5(ITGB2):c.329-5G>C
NM_000211.5(ITGB2):c.329-6C>G
NM_000211.5(ITGB2):c.329-7C>T rs2083997739
NM_000211.5(ITGB2):c.329-8A>C
NM_000211.5(ITGB2):c.347A>G (p.Asn116Ser) rs915995681
NM_000211.5(ITGB2):c.348C>T (p.Asn116=)
NM_000211.5(ITGB2):c.353C>T (p.Thr118Ile)
NM_000211.5(ITGB2):c.355T>G (p.Phe119Val)
NM_000211.5(ITGB2):c.363G>C (p.Arg121=) rs2146531845
NM_000211.5(ITGB2):c.36G>T (p.Val12=) rs2084118855
NM_000211.5(ITGB2):c.377C>G (p.Pro126Arg) rs763505620
NM_000211.5(ITGB2):c.382G>T (p.Asp128Tyr) rs137852615
NM_000211.5(ITGB2):c.393T>A (p.Tyr131Ter)
NM_000211.5(ITGB2):c.400G>T (p.Asp134Tyr) rs745917556
NM_000211.5(ITGB2):c.402C>G (p.Asp134Glu) rs1601310189
NM_000211.5(ITGB2):c.412T>C (p.Ser138Pro) rs137852617
NM_000211.5(ITGB2):c.421G>C (p.Asp141His)
NM_000211.5(ITGB2):c.433_436del (p.Asn145fs)
NM_000211.5(ITGB2):c.446T>C (p.Leu149Pro) rs137852611
NM_000211.5(ITGB2):c.45C>T (p.Leu15=) rs748182004
NM_000211.5(ITGB2):c.474C>A (p.Asn158Lys)
NM_000211.5(ITGB2):c.48C>T (p.Ser16=)
NM_000211.5(ITGB2):c.490G>A (p.Gly164Ser) rs770285096
NM_000211.5(ITGB2):c.493C>G (p.Arg165Gly) rs759935924
NM_000211.5(ITGB2):c.494G>A (p.Arg165His)
NM_000211.5(ITGB2):c.499+15C>A
NM_000211.5(ITGB2):c.499+17G>A
NM_000211.5(ITGB2):c.500-13A>G rs1471835319
NM_000211.5(ITGB2):c.500-6C>T
NM_000211.5(ITGB2):c.503T>C (p.Phe168Ser) rs2083962255
NM_000211.5(ITGB2):c.505G>A (p.Gly169Arg) rs137852612
NM_000211.5(ITGB2):c.51C>A (p.Leu17=)
NM_000211.5(ITGB2):c.534G>A (p.Pro178=)
NM_000211.5(ITGB2):c.546G>A (p.Thr182=)
NM_000211.5(ITGB2):c.549C>T (p.His183=)
NM_000211.5(ITGB2):c.54G>A (p.Gly18=) rs372110619
NM_000211.5(ITGB2):c.555T>G (p.Asp185Glu) rs2083961139
NM_000211.5(ITGB2):c.576dup (p.Asn193fs) rs483352813
NM_000211.5(ITGB2):c.58+19G>A
NM_000211.5(ITGB2):c.587A>C (p.Lys196Thr) rs137852610
NM_000211.5(ITGB2):c.589G>A (p.Glu197Lys) rs755393167
NM_000211.5(ITGB2):c.58G>A (p.Val20Ile) rs111663308
NM_000211.5(ITGB2):c.59-10C>A
NM_000211.5(ITGB2):c.59-16C>T
NM_000211.5(ITGB2):c.59-1G>A
NM_000211.5(ITGB2):c.59-9G>C rs141780263
NM_000211.5(ITGB2):c.591G>A (p.Glu197=) rs768833543
NM_000211.5(ITGB2):c.616C>T (p.His206Tyr)
NM_000211.5(ITGB2):c.636C>T (p.Asn212=) rs2083959696
NM_000211.5(ITGB2):c.639C>T (p.Asn213=)
NM_000211.5(ITGB2):c.646C>G (p.Gln216Glu) rs976487831
NM_000211.5(ITGB2):c.662T>A (p.Val221Asp)
NM_000211.5(ITGB2):c.706G>A (p.Gly236Arg) rs483352814
NM_000211.5(ITGB2):c.715G>A (p.Ala239Thr) rs179363873
NM_000211.5(ITGB2):c.730G>A (p.Ala244Thr)
NM_000211.5(ITGB2):c.741+13C>G
NM_000211.5(ITGB2):c.741+15C>T
NM_000211.5(ITGB2):c.741+16del rs375487126
NM_000211.5(ITGB2):c.741+19C>A rs73374602
NM_000211.5(ITGB2):c.741+1G>A rs1131691763
NM_000211.5(ITGB2):c.742-14C>A rs183204825
NM_000211.5(ITGB2):c.742-163_768del
NM_000211.5(ITGB2):c.742-16C>A
NM_000211.5(ITGB2):c.742-16del
NM_000211.5(ITGB2):c.742-20C>A rs113597686
NM_000211.5(ITGB2):c.742-21dup rs760281688
NM_000211.5(ITGB2):c.753del (p.Trp252fs) rs1349812924
NM_000211.5(ITGB2):c.757C>A (p.Arg253Ser) rs772607011
NM_000211.5(ITGB2):c.757C>T (p.Arg253Cys)
NM_000211.5(ITGB2):c.758G>A (p.Arg253His) rs200423927
NM_000211.5(ITGB2):c.768G>C (p.Thr256=)
NM_000211.5(ITGB2):c.780G>C (p.Val260=)
NM_000211.5(ITGB2):c.786del (p.Thr263fs) rs1601302490
NM_000211.5(ITGB2):c.78G>A (p.Thr26=) rs753813421
NM_000211.5(ITGB2):c.827G>A (p.Gly276Asp) rs1207286440
NM_000211.5(ITGB2):c.832A>T (p.Ile278Phe) rs2083934143
NM_000211.5(ITGB2):c.837G>C (p.Leu279=)
NM_000211.5(ITGB2):c.843del (p.Asn282fs) rs483352815
NM_000211.5(ITGB2):c.851_854dup (p.Cys286fs)
NM_000211.5(ITGB2):c.867G>A (p.Glu289=)
NM_000211.5(ITGB2):c.87G>A (p.Lys29=) rs772742293
NM_000211.5(ITGB2):c.880A>G (p.Lys294Glu) rs2083933179
NM_000211.5(ITGB2):c.88G>A (p.Val30Ile) rs962637993
NM_000211.5(ITGB2):c.894A>G (p.Glu298=)
NM_000211.5(ITGB2):c.897+19C>A rs754377221
NM_000211.5(ITGB2):c.897+19C>T
NM_000211.5(ITGB2):c.897+1G>T rs201752283
NM_000211.5(ITGB2):c.897+6T>C rs2083932728
NM_000211.5(ITGB2):c.897+7C>T
NM_000211.5(ITGB2):c.898-1G>C rs755834578
NM_000211.5(ITGB2):c.898-8C>T
NM_000211.5(ITGB2):c.898G>A (p.Asp300Asn)
NM_000211.5(ITGB2):c.92G>A (p.Ser31Asn)
NM_000211.5(ITGB2):c.932T>C (p.Leu311Pro) rs2083910472
NM_000211.5(ITGB2):c.949C>T (p.Gln317Ter)
NM_000211.5(ITGB2):c.954del (p.Ile319fs)
NM_000211.5(ITGB2):c.960C>T (p.Phe320=)
NM_000211.5(ITGB2):c.969C>T (p.Thr323=) rs1177063851
NM_000211.5(ITGB2):c.974G>A (p.Arg325Lys)
NM_000211.5(ITGB2):c.979G>C (p.Val327Leu) rs753051803
NM_000211.5(ITGB2):c.991G>A (p.Glu331Lys)
NM_000211.5(ITGB2):c.993+11T>C rs2146520637
NM_000211.5(ITGB2):c.993+18C>G
NM_000211.5(ITGB2):c.993+1G>T
NM_000211.5(ITGB2):c.993+20G>A
NM_000211.5(ITGB2):c.993+20G>T rs762060430
NM_000211.5(ITGB2):c.994-12_994-10del rs1221574332
NM_000211.5(ITGB2):c.994-1G>C rs1293268696
NM_000211.5(ITGB2):c.[1756C>T;742-14C>A]

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.