ClinVar Miner

List of variants studied for Platelet-type bleeding disorder 9 by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 213
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HGVS dbSNP gnomAD frequency
NM_002203.4(ITGA2):c.*721A>C rs1109527 0.88662
NM_002203.4(ITGA2):c.*3026A>G rs7719848 0.75000
NM_002203.4(ITGA2):c.*2883_*2893dup rs6149022 0.74811
NM_002203.4(ITGA2):c.630+10A>G rs1421933 0.74623
NM_002203.4(ITGA2):c.*894C>T rs1109526 0.74563
NM_002203.4(ITGA2):c.825G>A (p.Thr275=) rs1062535 0.37202
NM_002203.4(ITGA2):c.1312+12T>C rs2303127 0.36561
NM_002203.4(ITGA2):c.759C>T (p.Phe253=) rs1126643 0.36470
NM_002203.4(ITGA2):c.*3986A>C rs7725246 0.35845
NM_002203.4(ITGA2):c.*2940G>A rs6898333 0.34995
NM_002203.4(ITGA2):c.3252C>T (p.Phe1084=) rs2303122 0.34753
NM_002203.4(ITGA2):c.*2999A>G rs6880055 0.31005
NM_004531.5(MOCS2):c.*2158C>T rs17298242 0.20066
NM_004531.5(MOCS2):c.*413del rs3839261 0.15118
NM_002203.4(ITGA2):c.2376C>T (p.Asp792=) rs3212583 0.12027
NM_004531.5(MOCS2):c.*1872C>T rs77227647 0.11611
NM_002203.4(ITGA2):c.2484G>A (p.Thr828=) rs3212327 0.11398
NM_002203.4(ITGA2):c.*3918G>C rs10471829 0.11354
NM_002203.4(ITGA2):c.*2574C>G rs75427194 0.11349
NM_002203.4(ITGA2):c.*3164G>A rs7737412 0.11348
NM_002203.4(ITGA2):c.*1252G>A rs1042324 0.11343
NM_004531.5(MOCS2):c.*2032G>A rs75571463 0.11337
NM_002203.4(ITGA2):c.2568G>A (p.Leu856=) rs3213805 0.11329
NM_002203.4(ITGA2):c.1600G>A (p.Glu534Lys) rs1801106 0.11302
NM_002203.4(ITGA2):c.789T>C (p.Ala263=) rs1139484 0.10712
NM_002203.4(ITGA2):c.993A>G (p.Ala331=) rs3212523 0.10706
NM_004531.5(MOCS2):c.*2415C>T rs16880872 0.10619
NM_002203.4(ITGA2):c.*4098C>G rs10471830 0.10454
NM_002203.4(ITGA2):c.*2939C>T rs7700416 0.10451
NM_002203.4(ITGA2):c.849C>T (p.Asp283=) rs3212521 0.05788
NM_002203.3(ITGA2):c.-124G>A rs3212385 0.05373
NM_002203.4(ITGA2):c.2718G>A (p.Ala906=) rs3212594 0.01020
NM_004531.5(MOCS2):c.*2582A>C rs12518145 0.00995
NM_002203.4(ITGA2):c.*35A>C rs113222066 0.00866
NM_002203.4(ITGA2):c.*2151A>G rs76840527 0.00855
NM_002203.4(ITGA2):c.1096+11dup rs570925083 0.00851
NM_004531.5(MOCS2):c.*321A>G rs73756618 0.00849
NM_002203.4(ITGA2):c.*4042G>A rs181976027 0.00698
NM_002203.4(ITGA2):c.955G>A (p.Ala319Thr) rs41272301 0.00697
NM_002203.4(ITGA2):c.*3048G>A rs115863238 0.00694
NM_002203.4(ITGA2):c.*208G>A rs190842751 0.00685
NM_004531.5(MOCS2):c.*1913G>A rs193054707 0.00676
NM_002203.4(ITGA2):c.*29G>A rs13173706 0.00653
NM_002203.4(ITGA2):c.3379A>C (p.Lys1127Gln) rs3212645 0.00622
NM_002203.4(ITGA2):c.*3398T>G rs137861998 0.00614
NM_002203.4(ITGA2):c.*682A>G rs3212650 0.00495
NM_002203.4(ITGA2):c.*1641C>G rs10076541 0.00494
NM_002203.4(ITGA2):c.*1921G>T rs9292006 0.00470
NM_002203.4(ITGA2):c.756A>C (p.Thr252=) rs61737774 0.00421
NM_002203.4(ITGA2):c.2674A>C (p.Thr892Pro) rs116473481 0.00402
NM_002203.4(ITGA2):c.*462A>C rs182541283 0.00385
NM_002203.4(ITGA2):c.1807-6T>C rs3212555 0.00346
NM_002203.4(ITGA2):c.2678T>C (p.Ile893Thr) rs80331976 0.00345
NM_002203.4(ITGA2):c.-13G>A rs143667535 0.00321
NM_002203.4(ITGA2):c.*2521A>C rs79488788 0.00259
NM_002203.4(ITGA2):c.517A>G (p.Ile173Val) rs55973669 0.00232
NM_002203.4(ITGA2):c.227G>A (p.Arg76Gln) rs143262642 0.00226
NM_002203.4(ITGA2):c.3021T>G (p.Thr1007=) rs55980302 0.00173
NM_002203.4(ITGA2):c.*3409A>G rs542924934 0.00142
NM_002203.4(ITGA2):c.*2075A>G rs188770677 0.00136
NM_002203.4(ITGA2):c.*2716C>G rs149715267 0.00123
NM_002203.4(ITGA2):c.3154A>T (p.Thr1052Ser) rs150997093 0.00117
NM_004531.5(MOCS2):c.*2045G>A rs577647122 0.00111
NM_002203.4(ITGA2):c.*3331A>G rs140380471 0.00101
NM_002203.4(ITGA2):c.2780A>G (p.Asn927Ser) rs2287870 0.00096
NM_002203.4(ITGA2):c.2241C>T (p.Pro747=) rs41366951 0.00091
NM_002203.4(ITGA2):c.*3310T>G rs557257907 0.00087
NM_002203.4(ITGA2):c.*613C>T rs537086711 0.00086
NM_002203.4(ITGA2):c.*1635A>G rs192927707 0.00066
NM_002203.4(ITGA2):c.2742-4A>G rs41272305 0.00052
NM_002203.4(ITGA2):c.*707G>C rs191591133 0.00049
NM_002203.4(ITGA2):c.2483C>T (p.Thr828Met) rs79932422 0.00045
NM_002203.4(ITGA2):c.*2682T>A rs775163275 0.00044
NM_002203.4(ITGA2):c.633G>A (p.Val211=) rs26675 0.00042
NM_002203.4(ITGA2):c.327G>A (p.Met109Ile) rs188816090 0.00039
NM_002203.4(ITGA2):c.*1749T>C rs548494960 0.00038
NM_002203.4(ITGA2):c.*2064C>T rs201170451 0.00036
NM_002203.4(ITGA2):c.1638C>T (p.Pro546=) rs199602142 0.00036
NM_002203.4(ITGA2):c.*430G>C rs886060666 0.00035
NM_002203.4(ITGA2):c.*1947T>C rs561106268 0.00034
NM_002203.4(ITGA2):c.*1671G>C rs531102187 0.00033
NM_002203.4(ITGA2):c.*4028A>C rs879585300 0.00032
NM_002203.4(ITGA2):c.*3455A>G rs893708736 0.00029
NM_002203.4(ITGA2):c.*3028G>A rs547012254 0.00026
NM_002203.4(ITGA2):c.*3358G>C rs552507591 0.00018
NM_002203.4(ITGA2):c.*1356C>T rs771530392 0.00016
NM_002203.4(ITGA2):c.*1322T>C rs369001095 0.00015
NM_002203.4(ITGA2):c.*1300C>T rs965526283 0.00013
NM_002203.4(ITGA2):c.2377G>A (p.Gly793Arg) rs118190231 0.00013
NM_002203.4(ITGA2):c.*1346C>T rs1055904276 0.00011
NM_002203.4(ITGA2):c.*1915G>A rs140728831 0.00011
NM_002203.4(ITGA2):c.*3889A>G rs530007169 0.00011
NM_002203.4(ITGA2):c.*465T>C rs1021854035 0.00011
NM_002203.4(ITGA2):c.1789C>T (p.Arg597Cys) rs146370217 0.00011
NM_002203.4(ITGA2):c.3034G>A (p.Asp1012Asn) rs199575892 0.00011
NM_002203.4(ITGA2):c.3518T>C (p.Ile1173Thr) rs200155411 0.00011
NM_002203.4(ITGA2):c.780-11A>T rs202058704 0.00011
NM_002203.4(ITGA2):c.2503A>G (p.Ser835Gly) rs773985586 0.00010
NM_002203.4(ITGA2):c.*3820T>C rs886060692 0.00009
NM_002203.4(ITGA2):c.11A>G (p.Glu4Gly) rs559975113 0.00009
NM_002203.4(ITGA2):c.2429A>G (p.Gln810Arg) rs191616009 0.00009
NM_002203.4(ITGA2):c.2485C>G (p.Leu829Val) rs41441846 0.00008
NM_002203.4(ITGA2):c.*2367G>A rs1026813584 0.00007
NM_002203.4(ITGA2):c.*3237A>C rs886060688 0.00006
NM_002203.4(ITGA2):c.1189G>A (p.Gly397Ser) rs767342253 0.00006
NM_002203.4(ITGA2):c.3324T>C (p.Tyr1108=) rs772014693 0.00006
NM_002203.4(ITGA2):c.*2674G>C rs886060683 0.00005
NM_002203.4(ITGA2):c.*3414A>C rs546009701 0.00004
NM_002203.4(ITGA2):c.*3724T>C rs191917189 0.00004
NM_002203.4(ITGA2):c.*4083G>C rs974919174 0.00004
NM_002203.4(ITGA2):c.*859T>C rs886060670 0.00004
NM_002203.4(ITGA2):c.996C>T (p.Ile332=) rs577503636 0.00004
NM_002203.4(ITGA2):c.*2608A>G rs886060681 0.00003
NM_002203.4(ITGA2):c.*3113G>C rs886060686 0.00003
NM_002203.4(ITGA2):c.1594A>C (p.Ile532Leu) rs199808499 0.00003
NM_002203.4(ITGA2):c.268G>A (p.Ala90Thr) rs200476815 0.00003
NM_002203.4(ITGA2):c.2826-12A>T rs886060661 0.00003
NM_002203.4(ITGA2):c.871A>T (p.Met291Leu) rs41377544 0.00003
NM_004531.5(MOCS2):c.*171G>C rs191465075 0.00003
NM_002203.4(ITGA2):c.*1365G>A rs910292856 0.00002
NM_002203.4(ITGA2):c.*2198T>C rs540698536 0.00002
NM_002203.4(ITGA2):c.123C>T (p.Ser41=) rs140852048 0.00002
NM_002203.4(ITGA2):c.2608T>C (p.Ser870Pro) rs148313613 0.00002
NM_002203.4(ITGA2):c.573A>G (p.Val191=) rs190131248 0.00002
NM_002203.4(ITGA2):c.*1199C>T rs1042323 0.00001
NM_002203.4(ITGA2):c.*1825T>C rs570965140 0.00001
NM_002203.4(ITGA2):c.*1897A>T rs79223114 0.00001
NM_002203.4(ITGA2):c.*2051A>G rs1223966045 0.00001
NM_002203.4(ITGA2):c.*2392G>A rs886060676 0.00001
NM_002203.4(ITGA2):c.*2648A>G rs1001186003 0.00001
NM_002203.4(ITGA2):c.*2782C>G rs886060684 0.00001
NM_002203.4(ITGA2):c.*2921G>A rs886060685 0.00001
NM_002203.4(ITGA2):c.*298A>G rs1184111868 0.00001
NM_002203.4(ITGA2):c.*3166G>A rs1740558620 0.00001
NM_002203.4(ITGA2):c.*67G>C rs1437160437 0.00001
NM_002203.4(ITGA2):c.-35C>T rs768692399 0.00001
NM_002203.4(ITGA2):c.-89T>A rs543948644 0.00001
NM_002203.4(ITGA2):c.1108G>A (p.Gly370Arg) rs140178479 0.00001
NM_002203.4(ITGA2):c.1176T>C (p.Asp392=) rs144998443 0.00001
NM_002203.4(ITGA2):c.1524G>A (p.Val508=) rs757932706 0.00001
NM_002203.4(ITGA2):c.171T>A (p.Asn57Lys) rs780441074 0.00001
NM_002203.4(ITGA2):c.185+10T>C rs758980432 0.00001
NM_002203.4(ITGA2):c.1958C>A (p.Ala653Asp) rs748826809 0.00001
NM_002203.4(ITGA2):c.2434C>A (p.Gln812Lys) rs761499417 0.00001
NM_002203.4(ITGA2):c.2571+15C>G rs534251174 0.00001
NM_002203.4(ITGA2):c.2730C>T (p.Phe910=) rs372372566 0.00001
NM_002203.4(ITGA2):c.502+12A>G rs752392366 0.00001
NM_002203.4(ITGA2):c.602G>A (p.Gly201Asp) rs773789837 0.00001
NM_002203.4(ITGA2):c.614G>T (p.Gly205Val) rs886060657 0.00001
NM_002203.4(ITGA2):c.636G>T (p.Gly212=) rs373539496 0.00001
NM_002203.4(ITGA2):c.*1044_*1045dup rs886060671
NM_002203.4(ITGA2):c.*1449T>C rs1740450196
NM_002203.4(ITGA2):c.*1764del rs3212655
NM_002203.4(ITGA2):c.*1818_*1819insTTGGC rs543100435
NM_002203.4(ITGA2):c.*1957G>C rs1740479829
NM_002203.4(ITGA2):c.*1980T>C rs1740480277
NM_002203.4(ITGA2):c.*2009C>A rs1388184739
NM_002203.4(ITGA2):c.*2039_*2041del rs35863692
NM_002203.4(ITGA2):c.*2041del rs35863692
NM_002203.4(ITGA2):c.*2089G>C rs886060674
NM_002203.4(ITGA2):c.*2268dup rs533206560
NM_002203.4(ITGA2):c.*236del rs3212647
NM_002203.4(ITGA2):c.*2414G>A rs200790251
NM_002203.4(ITGA2):c.*2429C>T rs886060677
NM_002203.4(ITGA2):c.*2450G>A rs886060678
NM_002203.4(ITGA2):c.*2505CAAA[3] rs72277253
NM_002203.4(ITGA2):c.*2529_*2532del rs886060680
NM_002203.4(ITGA2):c.*2570C>A rs1900182
NM_002203.4(ITGA2):c.*2570C>T rs1900182
NM_002203.4(ITGA2):c.*2653T>G rs886060682
NM_002203.4(ITGA2):c.*2690G>C rs1740529330
NM_002203.4(ITGA2):c.*2723G>C rs145580223
NM_002203.4(ITGA2):c.*3164del rs886060687
NM_002203.4(ITGA2):c.*3308_*3310del rs139102895
NM_002203.4(ITGA2):c.*3385_*3386insGAAA rs59915734
NM_002203.4(ITGA2):c.*3404T>C rs1183806468
NM_002203.4(ITGA2):c.*3594_*3597delinsTTTATAAACAACTTTGTAGGACT rs886060690
NM_002203.4(ITGA2):c.*3597A>T rs72760448
NM_002203.4(ITGA2):c.*3599_*3600insTATATAAACAACTTTGTAGGACTAT rs57674800
NM_002203.4(ITGA2):c.*3599_*3600insTTATAAACAACTTTGTAGGACTAT rs57674800
NM_002203.4(ITGA2):c.*3763_*3764del rs145759303
NM_002203.4(ITGA2):c.*3813G>A rs1740598174
NM_002203.4(ITGA2):c.*3996G>T rs566829678
NM_002203.4(ITGA2):c.*4006_*4010del rs528320695
NM_002203.4(ITGA2):c.*4045AGT[1] rs71727762
NM_002203.4(ITGA2):c.*4045_*4051del rs143236463
NM_002203.4(ITGA2):c.*422C>T rs1740392086
NM_002203.4(ITGA2):c.*475_*477del rs199677547
NM_002203.4(ITGA2):c.*483G>A rs1034269446
NM_002203.4(ITGA2):c.*483del rs886060667
NM_002203.4(ITGA2):c.*609T>G rs886060668
NM_002203.4(ITGA2):c.*60G>A rs886060663
NM_002203.4(ITGA2):c.*60G>T rs886060663
NM_002203.4(ITGA2):c.*661T>A rs1740405266
NM_002203.4(ITGA2):c.*722T>C rs1740412814
NM_002203.4(ITGA2):c.*760_*761insTTAT rs3212652
NM_002203.4(ITGA2):c.*803G>C rs1740416494
NM_002203.4(ITGA2):c.*850_*854del rs752068879
NM_002203.4(ITGA2):c.*95dup rs202180218
NM_002203.4(ITGA2):c.-99G>C rs886060656
NM_002203.4(ITGA2):c.1141G>A (p.Val381Met) rs541732593
NM_002203.4(ITGA2):c.1372C>T (p.Arg458Trp) rs377150294
NM_002203.4(ITGA2):c.1441G>A (p.Ala481Thr) rs1744884286
NM_002203.4(ITGA2):c.1602+15dup rs545988273
NM_002203.4(ITGA2):c.1602+3A>G rs201610232
NM_002203.4(ITGA2):c.2069A>G (p.Gln690Arg) rs886060660
NM_002203.4(ITGA2):c.2099T>C (p.Ile700Thr) rs530127630
NM_002203.4(ITGA2):c.2235G>T (p.Gln745His) rs267606593
NM_002203.4(ITGA2):c.2796C>G (p.Leu932=) rs1745609993
NM_002203.4(ITGA2):c.2914A>T (p.Ile972Phe) rs768656331
NM_002203.4(ITGA2):c.3003C>A (p.Asn1001Lys) rs144334272
NM_002203.4(ITGA2):c.3110del (p.Phe1037fs) rs886060662
NM_004531.5(MOCS2):c.*44A>C rs367775935

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