ClinVar Miner

List of variants studied for Leukocyte adhesion deficiency type II by Invitae

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ClinVar version:
Total variants: 211
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HGVS dbSNP gnomAD frequency
NM_018389.5(SLC35C1):c.718A>G (p.Ile240Val) rs7130656 0.12992
NM_018389.5(SLC35C1):c.1047G>A (p.Pro349=) rs113735964 0.00399
NM_018389.5(SLC35C1):c.1054C>T (p.Pro352Ser) rs145613857 0.00391
NM_018389.5(SLC35C1):c.522C>T (p.Cys174=) rs141379070 0.00284
NM_018389.5(SLC35C1):c.598G>A (p.Val200Ile) rs146971634 0.00118
NM_018389.5(SLC35C1):c.748G>A (p.Gly250Arg) rs148606857 0.00073
NM_018389.5(SLC35C1):c.254C>T (p.Thr85Met) rs150215024 0.00068
NM_018389.5(SLC35C1):c.767G>A (p.Arg256His) rs751906696 0.00064
NM_018389.5(SLC35C1):c.534C>T (p.Ile178=) rs149296455 0.00038
NM_018389.5(SLC35C1):c.706G>A (p.Val236Ile) rs200146272 0.00019
NM_018389.5(SLC35C1):c.226G>A (p.Val76Ile) rs200202916 0.00015
NM_018389.5(SLC35C1):c.747C>T (p.Leu249=) rs567642788 0.00013
NM_018389.5(SLC35C1):c.663G>A (p.Pro221=) rs111773874 0.00012
NM_018389.5(SLC35C1):c.1055C>A (p.Pro352His) rs200843978 0.00011
NM_018389.5(SLC35C1):c.975G>A (p.Thr325=) rs377098836 0.00011
NM_018389.5(SLC35C1):c.139C>T (p.Leu47Phe) rs368455704 0.00009
NM_018389.5(SLC35C1):c.607G>A (p.Val203Met) rs368377475 0.00008
NM_018389.5(SLC35C1):c.19A>G (p.Lys7Glu) rs771361211 0.00007
NM_018389.5(SLC35C1):c.1025G>T (p.Gly342Val) rs377292146 0.00006
NM_018389.5(SLC35C1):c.597C>T (p.Thr199=) rs376082724 0.00006
NM_018389.5(SLC35C1):c.879G>A (p.Pro293=) rs573349525 0.00006
NM_018389.5(SLC35C1):c.890A>G (p.Asn297Ser) rs756683159 0.00006
NM_018389.5(SLC35C1):c.903G>T (p.Thr301=) rs150743224 0.00006
NM_018389.5(SLC35C1):c.585G>A (p.Ser195=) rs750284604 0.00005
NM_018389.5(SLC35C1):c.606C>T (p.Gly202=) rs757590578 0.00005
NM_018389.5(SLC35C1):c.1081G>A (p.Ala361Thr) rs371853940 0.00004
NM_018389.5(SLC35C1):c.153C>G (p.Thr51=) rs773263009 0.00004
NM_018389.5(SLC35C1):c.29G>A (p.Arg10Lys) rs567155861 0.00004
NM_018389.5(SLC35C1):c.407A>G (p.Lys136Arg) rs766282342 0.00004
NM_018389.5(SLC35C1):c.645C>T (p.Tyr215=) rs200626011 0.00004
NM_018389.5(SLC35C1):c.754C>G (p.Leu252Val) rs765414779 0.00004
NM_018389.5(SLC35C1):c.820G>A (p.Gly274Ser) rs759064697 0.00004
NM_018389.5(SLC35C1):c.858G>A (p.Leu286=) rs769671439 0.00004
NM_018389.5(SLC35C1):c.88G>A (p.Gly30Arg) rs761945760 0.00004
NM_018389.5(SLC35C1):c.934G>A (p.Val312Met) rs768749954 0.00004
NM_018389.5(SLC35C1):c.1046C>T (p.Pro349Leu) rs777594884 0.00003
NM_018389.5(SLC35C1):c.633C>G (p.Leu211=) rs372353822 0.00003
NM_018389.5(SLC35C1):c.650C>T (p.Thr217Met) rs764909821 0.00003
NM_018389.5(SLC35C1):c.673G>A (p.Gly225Ser) rs757393960 0.00003
NM_018389.5(SLC35C1):c.711C>T (p.Asn237=) rs777163801 0.00003
NM_018389.5(SLC35C1):c.742C>T (p.Leu248=) rs774081262 0.00003
NM_018389.5(SLC35C1):c.766C>T (p.Arg256Cys) rs374599500 0.00003
NM_018389.5(SLC35C1):c.939C>T (p.Leu313=) rs776684184 0.00003
NM_018389.5(SLC35C1):c.1018G>A (p.Val340Ile) rs776527276 0.00002
NM_018389.5(SLC35C1):c.51C>T (p.Thr17=) rs768517924 0.00002
NM_018389.5(SLC35C1):c.636C>T (p.Asn212=) rs549069990 0.00002
NM_018389.5(SLC35C1):c.819C>T (p.Gly273=) rs774033676 0.00002
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.1053G>T (p.Glu351Asp) rs764451718 0.00001
NM_018389.5(SLC35C1):c.1080C>T (p.Ser360=) rs749987181 0.00001
NM_018389.5(SLC35C1):c.116T>C (p.Leu39Ser) rs771587118 0.00001
NM_018389.5(SLC35C1):c.130G>A (p.Val44Met) rs541937245 0.00001
NM_018389.5(SLC35C1):c.163A>G (p.Met55Val) rs767671094 0.00001
NM_018389.5(SLC35C1):c.220A>G (p.Ile74Val) rs1184839008 0.00001
NM_018389.5(SLC35C1):c.307G>T (p.Asp103Tyr) rs760741388 0.00001
NM_018389.5(SLC35C1):c.312C>T (p.Phe104=) rs75224835 0.00001
NM_018389.5(SLC35C1):c.354G>A (p.Leu118=) rs777637034 0.00001
NM_018389.5(SLC35C1):c.356C>A (p.Pro119His) rs1249225084 0.00001
NM_018389.5(SLC35C1):c.372C>T (p.Phe124=) rs1172535420 0.00001
NM_018389.5(SLC35C1):c.410A>C (p.Tyr137Ser) rs1183848479 0.00001
NM_018389.5(SLC35C1):c.412G>A (p.Val138Ile) rs1235114730 0.00001
NM_018389.5(SLC35C1):c.433G>A (p.Val145Met) rs751986448 0.00001
NM_018389.5(SLC35C1):c.495C>T (p.Thr165=) rs1218424425 0.00001
NM_018389.5(SLC35C1):c.501C>T (p.Ser167=) rs956237776 0.00001
NM_018389.5(SLC35C1):c.535G>A (p.Gly179Arg) rs752325595 0.00001
NM_018389.5(SLC35C1):c.536-10C>G rs759978339 0.00001
NM_018389.5(SLC35C1):c.630G>A (p.Ser210=) rs200577486 0.00001
NM_018389.5(SLC35C1):c.662C>T (p.Pro221Leu) rs766191758 0.00001
NM_018389.5(SLC35C1):c.666G>A (p.Ala222=) rs754930082 0.00001
NM_018389.5(SLC35C1):c.712G>A (p.Ala238Thr) rs747660149 0.00001
NM_018389.5(SLC35C1):c.812C>T (p.Thr271Met) rs748793953 0.00001
NM_018389.5(SLC35C1):c.82G>A (p.Ala28Thr) rs1395133658 0.00001
NM_018389.5(SLC35C1):c.837C>T (p.Ala279=) rs371692301 0.00001
NM_018389.5(SLC35C1):c.846C>T (p.Tyr282=) rs748113243 0.00001
NM_018389.5(SLC35C1):c.878C>T (p.Pro293Leu) rs372897536 0.00001
NM_018389.5(SLC35C1):c.897G>A (p.Ser299=) rs141170131 0.00001
NM_018389.5(SLC35C1):c.902C>T (p.Thr301Met) rs770499899 0.00001
NM_018389.5(SLC35C1):c.924A>G (p.Thr308=) rs1489703407 0.00001
NM_018389.5(SLC35C1):c.933C>T (p.Ala311=) rs1025394775 0.00001
NM_018389.5(SLC35C1):c.942C>G (p.Tyr314Ter) rs766512058 0.00001
NM_018389.5(SLC35C1):c.974C>T (p.Thr325Met) rs753103441 0.00001
NM_018389.5(SLC35C1):c.983T>C (p.Met328Thr) rs764394629 0.00001
NM_018389.5(SLC35C1):c.997G>A (p.Gly333Ser) rs757642463 0.00001
NC_000011.10:g.(?_45805782)_(45910982_?)dup
NC_000011.9:g.(?_45827353)_(47804770_?)del
NC_000011.9:g.(?_45827353)_(47804770_?)dup
NM_018389.5(SLC35C1):c.1004C>T (p.Ser335Phe)
NM_018389.5(SLC35C1):c.1005C>T (p.Ser335=)
NM_018389.5(SLC35C1):c.1008C>T (p.Ala336=) rs2134598644
NM_018389.5(SLC35C1):c.1021del (p.Arg341fs) rs2134598673
NM_018389.5(SLC35C1):c.1079G>A (p.Ser360Asn)
NM_018389.5(SLC35C1):c.1085T>C (p.Met362Thr) rs2134598996
NM_018389.5(SLC35C1):c.108G>A (p.Leu36=)
NM_018389.5(SLC35C1):c.1090G>T (p.Val364Leu) rs1329095261
NM_018389.5(SLC35C1):c.10G>A (p.Ala4Thr) rs538320044
NM_018389.5(SLC35C1):c.120G>C (p.Gln40His) rs1554953091
NM_018389.5(SLC35C1):c.120G>T (p.Gln40His) rs1554953091
NM_018389.5(SLC35C1):c.123C>T (p.Ile41=) rs1590742957
NM_018389.5(SLC35C1):c.126G>C (p.Ala42=)
NM_018389.5(SLC35C1):c.12C>T (p.Ala4=)
NM_018389.5(SLC35C1):c.14C>T (p.Pro5Leu) rs2085864641
NM_018389.5(SLC35C1):c.150C>T (p.Val50=)
NM_018389.5(SLC35C1):c.183C>T (p.Tyr61=)
NM_018389.5(SLC35C1):c.192C>G (p.Asp64Glu) rs1315840820
NM_018389.5(SLC35C1):c.198C>T (p.Pro66=) rs1358909221
NM_018389.5(SLC35C1):c.200C>T (p.Ser67Phe) rs554958653
NM_018389.5(SLC35C1):c.204G>A (p.Leu68=)
NM_018389.5(SLC35C1):c.207G>A (p.Arg69=) rs757588395
NM_018389.5(SLC35C1):c.209T>G (p.Leu70Arg)
NM_018389.5(SLC35C1):c.216C>T (p.Thr72=)
NM_018389.5(SLC35C1):c.222C>A (p.Ile74=)
NM_018389.5(SLC35C1):c.226G>C (p.Val76Leu) rs200202916
NM_018389.5(SLC35C1):c.22C>T (p.Arg8Trp)
NM_018389.5(SLC35C1):c.231C>G (p.Thr77=) rs1162234989
NM_018389.5(SLC35C1):c.255G>A (p.Thr85=)
NM_018389.5(SLC35C1):c.255G>T (p.Thr85=)
NM_018389.5(SLC35C1):c.258G>A (p.Leu86=)
NM_018389.5(SLC35C1):c.260T>C (p.Leu87Pro) rs2134590175
NM_018389.5(SLC35C1):c.271C>T (p.Leu91Phe)
NM_018389.5(SLC35C1):c.286G>A (p.Ala96Thr)
NM_018389.5(SLC35C1):c.291C>T (p.Cys97=)
NM_018389.5(SLC35C1):c.303C>T (p.Ala101=) rs1252172682
NM_018389.5(SLC35C1):c.309C>T (p.Asp103=)
NM_018389.5(SLC35C1):c.323G>C (p.Arg108Pro) rs765620583
NM_018389.5(SLC35C1):c.323G>T (p.Arg108Leu) rs765620583
NM_018389.5(SLC35C1):c.330C>G (p.Asp110Glu) rs374967002
NM_018389.5(SLC35C1):c.330C>T (p.Asp110=)
NM_018389.5(SLC35C1):c.336G>A (p.Arg112=)
NM_018389.5(SLC35C1):c.340G>C (p.Ala114Pro)
NM_018389.5(SLC35C1):c.344G>A (p.Arg115His)
NM_018389.5(SLC35C1):c.345C>T (p.Arg115=)
NM_018389.5(SLC35C1):c.348C>T (p.Ser116=) rs755762331
NM_018389.5(SLC35C1):c.357C>T (p.Pro119=)
NM_018389.5(SLC35C1):c.360G>A (p.Leu120=)
NM_018389.5(SLC35C1):c.363G>A (p.Ser121=)
NM_018389.5(SLC35C1):c.367del (p.Val123fs) rs2085872592
NM_018389.5(SLC35C1):c.375C>G (p.Ile125Met) rs747143721
NM_018389.5(SLC35C1):c.377G>A (p.Gly126Asp) rs2085873008
NM_018389.5(SLC35C1):c.381G>T (p.Met127Ile)
NM_018389.5(SLC35C1):c.402C>T (p.Cys134=) rs955606062
NM_018389.5(SLC35C1):c.408G>A (p.Lys136=) rs1297705723
NM_018389.5(SLC35C1):c.40A>G (p.Met14Val) rs775175277
NM_018389.5(SLC35C1):c.411C>T (p.Tyr137=)
NM_018389.5(SLC35C1):c.42G>A (p.Met14Ile)
NM_018389.5(SLC35C1):c.439C>T (p.Arg147Cys) rs28939087
NM_018389.5(SLC35C1):c.447C>T (p.Leu149=)
NM_018389.5(SLC35C1):c.453C>T (p.Thr151=)
NM_018389.5(SLC35C1):c.465GCT[3] (p.Leu157_Ser158insLeu) rs2134590716
NM_018389.5(SLC35C1):c.482T>C (p.Leu161Pro) rs778718913
NM_018389.5(SLC35C1):c.503_505del (p.Phe168del) rs587777655
NM_018389.5(SLC35C1):c.506A>G (p.Tyr169Cys)
NM_018389.5(SLC35C1):c.535+20A>G
NM_018389.5(SLC35C1):c.536-16C>T
NM_018389.5(SLC35C1):c.536-21CTC[2] rs771937822
NM_018389.5(SLC35C1):c.549T>C (p.Leu183=)
NM_018389.5(SLC35C1):c.564G>A (p.Glu188=) rs543075977
NM_018389.5(SLC35C1):c.567G>C (p.Gly189=)
NM_018389.5(SLC35C1):c.580C>T (p.Leu194=)
NM_018389.5(SLC35C1):c.58T>C (p.Ser20Pro)
NM_018389.5(SLC35C1):c.593G>C (p.Gly198Ala)
NM_018389.5(SLC35C1):c.595A>G (p.Thr199Ala)
NM_018389.5(SLC35C1):c.603C>T (p.Phe201=)
NM_018389.5(SLC35C1):c.60A>G (p.Ser20=)
NM_018389.5(SLC35C1):c.622T>C (p.Cys208Arg)
NM_018389.5(SLC35C1):c.640A>G (p.Ile214Val) rs2134597431
NM_018389.5(SLC35C1):c.651G>T (p.Thr217=)
NM_018389.5(SLC35C1):c.656T>C (p.Val219Ala) rs2134597499
NM_018389.5(SLC35C1):c.66C>T (p.Pro22=)
NM_018389.5(SLC35C1):c.672C>G (p.Asp224Glu) rs528291665
NM_018389.5(SLC35C1):c.672C>T (p.Asp224=) rs528291665
NM_018389.5(SLC35C1):c.674G>A (p.Gly225Asp) rs2134597563
NM_018389.5(SLC35C1):c.679A>G (p.Ile227Val) rs1565043377
NM_018389.5(SLC35C1):c.705C>T (p.Asn235=)
NM_018389.5(SLC35C1):c.717_718inv (p.Ile240Val)
NM_018389.5(SLC35C1):c.718A>C (p.Ile240Leu) rs7130656
NM_018389.5(SLC35C1):c.737T>A (p.Leu246His)
NM_018389.5(SLC35C1):c.738C>G (p.Leu246=)
NM_018389.5(SLC35C1):c.73G>A (p.Glu25Lys)
NM_018389.5(SLC35C1):c.744G>T (p.Leu248=)
NM_018389.5(SLC35C1):c.751G>A (p.Glu251Lys)
NM_018389.5(SLC35C1):c.759G>A (p.Gln253=)
NM_018389.5(SLC35C1):c.769G>T (p.Asp257Tyr) rs2085936907
NM_018389.5(SLC35C1):c.776C>T (p.Ala259Val) rs1159038048
NM_018389.5(SLC35C1):c.778C>T (p.Gln260Ter) rs1470970903
NM_018389.5(SLC35C1):c.78A>G (p.Ala26=) rs112575013
NM_018389.5(SLC35C1):c.791C>T (p.Ala264Val)
NM_018389.5(SLC35C1):c.804G>T (p.Gly268=) rs1327025697
NM_018389.5(SLC35C1):c.836C>G (p.Ala279Gly)
NM_018389.5(SLC35C1):c.840C>A (p.Ile280=) rs368103927
NM_018389.5(SLC35C1):c.840C>T (p.Ile280=) rs368103927
NM_018389.5(SLC35C1):c.84C>A (p.Ala28=)
NM_018389.5(SLC35C1):c.854G>A (p.Gly285Glu) rs1377122884
NM_018389.5(SLC35C1):c.854G>T (p.Gly285Val)
NM_018389.5(SLC35C1):c.85A>C (p.Asn29His) rs1304558236
NM_018389.5(SLC35C1):c.861G>A (p.Gln287=)
NM_018389.5(SLC35C1):c.866A>G (p.Lys289Arg) rs2085939659
NM_018389.5(SLC35C1):c.877C>A (p.Pro293Thr) rs2134598263
NM_018389.5(SLC35C1):c.885C>T (p.Thr295=)
NM_018389.5(SLC35C1):c.896C>T (p.Ser299Leu) rs2085940384
NM_018389.5(SLC35C1):c.903G>A (p.Thr301=) rs150743224
NM_018389.5(SLC35C1):c.916G>T (p.Ala306Ser)
NM_018389.5(SLC35C1):c.933C>G (p.Ala311=) rs1025394775
NM_018389.5(SLC35C1):c.940TAC[1] (p.Tyr315del) rs760348382
NM_018389.5(SLC35C1):c.945C>T (p.Tyr315=)
NM_018389.5(SLC35C1):c.954C>G (p.Thr318=)
NM_018389.5(SLC35C1):c.956A>C (p.Lys319Thr) rs2134598497
NM_018389.5(SLC35C1):c.969G>C (p.Trp323Cys) rs2085942265
NM_018389.5(SLC35C1):c.978C>T (p.Ser326=)
NM_018389.5(SLC35C1):c.983T>G (p.Met328Arg) rs764394629
NM_018389.5(SLC35C1):c.998G>C (p.Gly333Ala) rs2085942864

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