ClinVar Miner

List of variants reported as uncertain significance for Platelet-type bleeding disorder 9 by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 88
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HGVS dbSNP gnomAD frequency
NM_002203.4(ITGA2):c.*2883_*2893dup rs6149022 0.74811
NM_002203.4(ITGA2):c.*3409A>G rs542924934 0.00142
NM_002203.4(ITGA2):c.*613C>T rs537086711 0.00086
NM_002203.4(ITGA2):c.*2682T>A rs775163275 0.00044
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.*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.*1346C>T rs1055904276 0.00011
NM_002203.4(ITGA2):c.*465T>C rs1021854035 0.00011
NM_002203.4(ITGA2):c.*3820T>C rs886060692 0.00009
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.*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.*2608A>G rs886060681 0.00003
NM_002203.4(ITGA2):c.*3113G>C rs886060686 0.00003
NM_002203.4(ITGA2):c.2826-12A>T rs886060661 0.00003
NM_002203.4(ITGA2):c.*1365G>A rs910292856 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.*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.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.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.*1044_*1045dup rs886060671
NM_002203.4(ITGA2):c.*1449T>C rs1740450196
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.*2089G>C rs886060674
NM_002203.4(ITGA2):c.*2268dup rs533206560
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.*2529_*2532del rs886060680
NM_002203.4(ITGA2):c.*2653T>G rs886060682
NM_002203.4(ITGA2):c.*2690G>C rs1740529330
NM_002203.4(ITGA2):c.*3164del rs886060687
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.*3813G>A rs1740598174
NM_002203.4(ITGA2):c.*3996G>T rs566829678
NM_002203.4(ITGA2):c.*422C>T rs1740392086
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.*803G>C rs1740416494
NM_002203.4(ITGA2):c.*850_*854del rs752068879
NM_002203.4(ITGA2):c.-99G>C rs886060656
NM_002203.4(ITGA2):c.1441G>A (p.Ala481Thr) rs1744884286
NM_002203.4(ITGA2):c.1602+15dup rs545988273
NM_002203.4(ITGA2):c.2069A>G (p.Gln690Arg) rs886060660
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.3110del (p.Phe1037fs) rs886060662

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