ClinVar Miner

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

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Total variants: 74
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HGVS dbSNP gnomAD frequency
NM_018389.5(SLC35C1):c.*1158C>T rs4756027 0.84749
NM_018389.5(SLC35C1):c.*1312T>C rs7943306 0.79007
NM_018389.5(SLC35C1):c.*49G>A rs1139266 0.63052
NM_018389.5(SLC35C1):c.-3A>G rs3808976 0.27016
NM_018389.5(SLC35C1):c.*1315C>T rs55758172 0.19265
NM_018389.5(SLC35C1):c.*1074C>T rs4756026 0.19261
NM_018389.5(SLC35C1):c.-303G>C rs12289963 0.17005
NM_018389.5(SLC35C1):c.718A>G (p.Ile240Val) rs7130656 0.12992
NM_018389.5(SLC35C1):c.-632G>A rs77254044 0.11737
NM_018389.5(SLC35C1):c.*1580C>T rs10838518 0.07780
NM_018389.5(SLC35C1):c.*414G>A rs1139267 0.05406
NM_018389.5(SLC35C1):c.*955C>A rs76564550 0.03946
NM_018389.5(SLC35C1):c.-173C>T rs78455013 0.01481
NM_018389.5(SLC35C1):c.*1208G>A rs115509471 0.00851
NM_018389.5(SLC35C1):c.1054C>T (p.Pro352Ser) rs145613857 0.00391
NM_018389.5(SLC35C1):c.-88T>G rs546865255 0.00386
NM_018389.5(SLC35C1):c.-653C>T rs150274138 0.00348
NM_018389.5(SLC35C1):c.*1404G>A rs142012266 0.00295
NM_018389.4(SLC35C1):c.-665C>T rs530622849 0.00288
NM_018389.5(SLC35C1):c.522C>T (p.Cys174=) rs141379070 0.00284
NM_018389.5(SLC35C1):c.*1322A>G rs148127105 0.00203
NM_018389.5(SLC35C1):c.-633T>G rs566857902 0.00177
NM_018389.5(SLC35C1):c.*647T>C rs372196593 0.00109
NM_018389.5(SLC35C1):c.*1569G>C rs139986610 0.00108
NM_018389.5(SLC35C1):c.748G>A (p.Gly250Arg) rs148606857 0.00073
NM_018389.4(SLC35C1):c.-657C>A rs550333679 0.00067
NM_018389.5(SLC35C1):c.*1418C>A rs575219836 0.00019
NM_018389.5(SLC35C1):c.226G>A (p.Val76Ile) rs200202916 0.00015
NM_018389.5(SLC35C1):c.*1619C>A rs552263015 0.00014
NM_018389.5(SLC35C1):c.-569C>T rs886048307 0.00014
NM_018389.5(SLC35C1):c.747C>T (p.Leu249=) rs567642788 0.00013
NM_018389.5(SLC35C1):c.*1127G>A rs187013469 0.00012
NM_018389.5(SLC35C1):c.*572C>T rs886048318 0.00012
NM_018389.5(SLC35C1):c.890A>G (p.Asn297Ser) rs756683159 0.00006
NM_018389.5(SLC35C1):c.*1156C>T rs886048319 0.00004
NM_018389.5(SLC35C1):c.*1373G>C rs886048320 0.00004
NM_018389.5(SLC35C1):c.*244G>A rs886048316 0.00004
NM_018389.5(SLC35C1):c.29G>A (p.Arg10Lys) rs567155861 0.00004
NM_018389.5(SLC35C1):c.*1031G>A rs1476944695 0.00003
NM_018389.5(SLC35C1):c.*1229C>T rs938496129 0.00003
NM_018389.5(SLC35C1):c.*528G>A rs886048317 0.00003
NM_018389.5(SLC35C1):c.-518C>A rs886048309 0.00003
NM_018389.5(SLC35C1):c.*561C>T rs934108329 0.00002
NM_018389.5(SLC35C1):c.-218G>C rs564660234 0.00002
NM_018389.5(SLC35C1):c.-481G>A rs886048310 0.00002
NM_018389.5(SLC35C1):c.51C>T (p.Thr17=) rs768517924 0.00002
NM_018389.5(SLC35C1):c.*1419A>G rs2085964667 0.00001
NM_018389.5(SLC35C1):c.*1543C>G rs766558309 0.00001
NM_018389.5(SLC35C1):c.*1647T>C rs886048323 0.00001
NM_018389.5(SLC35C1):c.*542A>T rs538005835 0.00001
NM_018389.5(SLC35C1):c.*650C>A rs780018107 0.00001
NM_018389.5(SLC35C1):c.*72G>A rs528884213 0.00001
NM_018389.5(SLC35C1):c.-287C>G rs974599944 0.00001
NM_018389.5(SLC35C1):c.-312T>C rs886048312 0.00001
NM_018389.5(SLC35C1):c.-393C>T rs886048311 0.00001
NM_018389.5(SLC35C1):c.1013C>T (p.Thr338Ile) rs768592798 0.00001
NM_018389.5(SLC35C1):c.1031A>G (p.Glu344Gly) rs759504632 0.00001
NM_018389.5(SLC35C1):c.151A>G (p.Thr51Ala) rs769916550 0.00001
NM_018389.5(SLC35C1):c.440G>A (p.Arg147His) rs886048314 0.00001
NM_018389.5(SLC35C1):c.666G>A (p.Ala222=) rs754930082 0.00001
NM_018389.5(SLC35C1):c.812C>T (p.Thr271Met) rs748793953 0.00001
NM_018389.5(SLC35C1):c.837C>T (p.Ala279=) rs371692301 0.00001
NM_018389.4(SLC35C1):c.-678A>G rs886048306
NM_018389.5(SLC35C1):c.*1426G>A rs886048321
NM_018389.5(SLC35C1):c.*1582C>T rs189120012
NM_018389.5(SLC35C1):c.*1636G>A rs79173599
NM_018389.5(SLC35C1):c.*1636G>T rs79173599
NM_018389.5(SLC35C1):c.*697G>A rs866682376
NM_018389.5(SLC35C1):c.-234T>G rs886048313
NM_018389.5(SLC35C1):c.-615G>C rs987392297
NM_018389.5(SLC35C1):c.1062C>T (p.Pro354=) rs886048315
NM_018389.5(SLC35C1):c.503_505del (p.Phe168del) rs587777655
NM_018389.5(SLC35C1):c.58T>G (p.Ser20Ala) rs2085865383
NM_018389.5(SLC35C1):c.738C>T (p.Leu246=) rs369955835

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