ClinVar Miner

List of variants reported as uncertain significance for autoimmune lymphoproliferative syndrome type 1

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 277
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HGVS dbSNP gnomAD frequency
NM_000639.3(FASLG):c.*612T>A rs868507856 0.05258
NM_000043.6(FAS):c.183G>A (p.Lys61=) rs3218613 0.00606
NM_000639.3(FASLG):c.*608T>A rs867998396 0.00352
NM_000639.3(FASLG):c.451+7A>G rs201525996 0.00210
NM_000043.6(FAS):c.580G>A (p.Glu194Lys) rs56006128 0.00138
NM_000639.3(FASLG):c.*600G>T rs886045574 0.00133
NM_000639.3(FASLG):c.364C>A (p.His122Asn) rs140406512 0.00034
NM_000639.3(FASLG):c.280T>G (p.Leu94Val) rs56302117 0.00033
NM_000043.6(FAS):c.578A>G (p.Lys193Arg) rs150489856 0.00026
NM_000639.3(FASLG):c.360G>C (p.Gln120His) rs372615226 0.00026
NM_000043.6(FAS):c.-10C>A rs200181814 0.00019
NM_000043.6(FAS):c.914C>T (p.Thr305Ile) rs3218611 0.00018
NM_000043.6(FAS):c.*1294A>T rs9658778 0.00016
NM_000043.6(FAS):c.961G>A (p.Asp321Asn) rs137898188 0.00013
NM_000639.3(FASLG):c.*54A>T rs550027918 0.00013
NM_000043.6(FAS):c.956C>T (p.Thr319Ile) rs372459755 0.00011
NM_000639.3(FASLG):c.466A>G (p.Arg156Gly) rs80358238 0.00010
NM_000043.6(FAS):c.251C>T (p.Pro84Leu) rs778483787 0.00009
NM_000043.6(FAS):c.38C>T (p.Thr13Met) rs372880667 0.00009
NM_000043.6(FAS):c.*520T>C rs886047462 0.00006
NM_000639.3(FASLG):c.173C>T (p.Pro58Leu) rs558758285 0.00006
NM_000639.3(FASLG):c.749A>G (p.Asn250Ser) rs376317481 0.00006
NM_000043.6(FAS):c.667A>C (p.Asn223His) rs143318339 0.00005
NM_000639.3(FASLG):c.278C>T (p.Ala93Val) rs758796005 0.00005
NM_000639.2(FASLG):c.-136G>A rs55804267 0.00004
NM_000639.3(FASLG):c.*306A>C rs556639319 0.00004
NM_000639.3(FASLG):c.109C>G (p.Pro37Ala) rs145731782 0.00004
NM_000639.3(FASLG):c.176C>T (p.Pro59Leu) rs375737004 0.00004
NM_000639.3(FASLG):c.394+3G>A rs376383896 0.00004
NM_032977.4(CASP10):c.729A>G (p.Arg243=) rs374515060 0.00004
NM_000043.6(FAS):c.196+3A>C rs370162732 0.00003
NM_000043.6(FAS):c.247G>A (p.Val83Met) rs199790261 0.00003
NM_000043.6(FAS):c.488C>T (p.Thr163Ile) rs563551720 0.00003
NM_000043.6(FAS):c.867A>C (p.Glu289Asp) rs377337130 0.00003
NM_000043.6(FAS):c.976A>C (p.Asn326His) rs770595930 0.00003
NM_000043.6(FAS):c.97A>G (p.Lys33Glu) rs55766344 0.00003
NM_000639.3(FASLG):c.*120G>A rs886045571 0.00003
NM_000639.3(FASLG):c.152C>T (p.Pro51Leu) rs61761322 0.00003
NM_000639.3(FASLG):c.179C>T (p.Pro60Leu) rs780144691 0.00003
NM_000639.3(FASLG):c.319C>A (p.Leu107Ile) rs748768839 0.00003
NM_000639.3(FASLG):c.323A>G (p.Gln108Arg) rs369342226 0.00003
NM_000639.3(FASLG):c.49A>C (p.Ser17Arg) rs777720730 0.00003
NM_000639.3(FASLG):c.532A>G (p.Lys178Glu) rs772212573 0.00003
NM_032977.4(CASP10):c.440T>C (p.Met147Thr) rs121909776 0.00003
NM_000043.6(FAS):c.*386A>G rs1186205053 0.00002
NM_000043.6(FAS):c.*839A>G rs779728201 0.00002
NM_000043.6(FAS):c.*874T>A rs1436430653 0.00002
NM_000043.6(FAS):c.347A>G (p.Glu116Gly) rs749714005 0.00002
NM_000043.6(FAS):c.413C>T (p.Thr138Ile) rs760912307 0.00002
NM_000043.6(FAS):c.628C>T (p.His210Tyr) rs1428151683 0.00002
NM_000043.6(FAS):c.943C>T (p.Leu315Phe) rs1475820915 0.00002
NM_000639.3(FASLG):c.*203C>T rs886045572 0.00002
NM_000639.3(FASLG):c.137C>T (p.Pro46Leu) rs779382158 0.00002
NM_000639.3(FASLG):c.344G>A (p.Arg115Gln) rs1023476500 0.00002
NM_000639.3(FASLG):c.497A>G (p.Tyr166Cys) rs760432021 0.00002
NM_032977.4(CASP10):c.325C>T (p.Arg109Ter) rs201601111 0.00002
NM_000043.6(FAS):c.*1313G>A rs192544176 0.00001
NM_000043.6(FAS):c.163G>C (p.Asp55His) rs148677058 0.00001
NM_000043.6(FAS):c.176G>T (p.Cys59Phe) rs886047459 0.00001
NM_000043.6(FAS):c.217T>G (p.Cys73Gly) rs751654768 0.00001
NM_000043.6(FAS):c.334+3A>C rs1848316496 0.00001
NM_000043.6(FAS):c.379T>G (p.Cys127Gly) rs1848386782 0.00001
NM_000043.6(FAS):c.432C>A (p.Asp144Glu) rs574338716 0.00001
NM_000043.6(FAS):c.524G>A (p.Gly175Glu) rs752208395 0.00001
NM_000043.6(FAS):c.533G>A (p.Cys178Tyr) rs372866793 0.00001
NM_000043.6(FAS):c.608G>T (p.Arg203Ile) rs756880278 0.00001
NM_000043.6(FAS):c.637C>T (p.Pro213Ser) rs755532307 0.00001
NM_000043.6(FAS):c.666A>G (p.Ile222Met) rs767806688 0.00001
NM_000043.6(FAS):c.674C>G (p.Ser225Cys) rs1848626473 0.00001
NM_000043.6(FAS):c.694T>C (p.Tyr232His) rs767866112 0.00001
NM_000043.6(FAS):c.700A>G (p.Thr234Ala) rs962274229 0.00001
NM_000043.6(FAS):c.79G>A (p.Val27Met) rs201624874 0.00001
NM_000043.6(FAS):c.885T>G (p.Ile295Met) rs1170990745 0.00001
NM_000043.6(FAS):c.937A>G (p.Ile313Val) rs751341397 0.00001
NM_000043.6(FAS):c.950A>G (p.Asp317Gly) rs200864612 0.00001
NM_000043.6(FAS):c.95C>A (p.Ser32Tyr) rs866603022 0.00001
NM_000639.3(FASLG):c.*119G>A rs753021852 0.00001
NM_000639.3(FASLG):c.113G>A (p.Arg38Lys) rs149563384 0.00001
NM_000639.3(FASLG):c.117G>T (p.Arg39Ser) rs373329523 0.00001
NM_000639.3(FASLG):c.119C>T (p.Pro40Leu) rs1256138927 0.00001
NM_000639.3(FASLG):c.170C>T (p.Pro57Leu) rs149883274 0.00001
NM_000639.3(FASLG):c.301A>G (p.Met101Val) rs747496936 0.00001
NM_000639.3(FASLG):c.412C>T (p.Pro138Ser) rs756917304 0.00001
NM_000639.3(FASLG):c.452-12G>A rs759351686 0.00001
NM_000639.3(FASLG):c.474G>C (p.Met158Ile) rs888867585 0.00001
NM_000639.3(FASLG):c.503T>A (p.Ile168Asn) rs1291566237 0.00001
NM_000639.3(FASLG):c.692G>A (p.Ser231Asn) rs758377456 0.00001
NM_000639.3(FASLG):c.740C>A (p.Ala247Glu) rs80358237 0.00001
NM_000639.3(FASLG):c.781G>A (p.Val261Ile) rs201780506 0.00001
NM_001141945.3(ACTA2):c.-24+350G>A rs938458478 0.00001
NC_000001.10:g.(?_171605065)_(173962123_?)dup
NC_000001.11:g.(?_172658358)_(172666036_?)dup
NC_000001.11:g.(?_172658358)_(172909884_?)dup
NC_000010.10:g.(?_90332640)_(91222335_?)dup
NM_000043.6(FAS):c.*1153A>T rs986613204
NM_000043.6(FAS):c.*119C>T rs1848699181
NM_000043.6(FAS):c.*566C>G rs886047463
NM_000043.6(FAS):c.*586G>A rs1848730964
NM_000043.6(FAS):c.*88T>C rs886047461
NM_000043.6(FAS):c.1002G>T (p.Leu334Phe) rs1848690736
NM_000043.6(FAS):c.1008G>C (p.Ter336Tyr)
NM_000043.6(FAS):c.103T>A (p.Leu35Met)
NM_000043.6(FAS):c.104T>G (p.Leu35Trp) rs2133471258
NM_000043.6(FAS):c.136A>C (p.Thr46Pro)
NM_000043.6(FAS):c.155_169dup (p.Gly56_Gln57insLeuHisHisAspGly)
NM_000043.6(FAS):c.15G>C (p.Trp5Cys)
NM_000043.6(FAS):c.161A>G (p.His54Arg) rs759152311
NM_000043.6(FAS):c.175T>A (p.Cys59Ser)
NM_000043.6(FAS):c.179A>G (p.His60Arg) rs753767914
NM_000043.6(FAS):c.185C>G (p.Pro62Arg) rs757780022
NM_000043.6(FAS):c.187T>C (p.Cys63Arg)
NM_000043.6(FAS):c.195A>G (p.Pro65=)
NM_000043.6(FAS):c.196+2dup
NM_000043.6(FAS):c.196+5G>T
NM_000043.6(FAS):c.204G>T (p.Arg68Ser)
NM_000043.6(FAS):c.218G>C (p.Cys73Ser) rs2133502355
NM_000043.6(FAS):c.226A>C (p.Asn76His)
NM_000043.6(FAS):c.230G>A (p.Gly77Glu)
NM_000043.6(FAS):c.245G>A (p.Cys82Tyr)
NM_000043.6(FAS):c.259G>A (p.Glu87Lys) rs2133503091
NM_000043.6(FAS):c.279C>A (p.Asp93Glu)
NM_000043.6(FAS):c.287A>G (p.His96Arg) rs1589475804
NM_000043.6(FAS):c.30+6C>T rs1847139427
NM_000043.6(FAS):c.31-8T>G rs1589464585
NM_000043.6(FAS):c.31-9A>G rs886047458
NM_000043.6(FAS):c.310T>C (p.Cys104Arg)
NM_000043.6(FAS):c.32T>C (p.Val11Ala)
NM_000043.6(FAS):c.333T>C (p.His111=)
NM_000043.6(FAS):c.335-4C>G
NM_000043.6(FAS):c.340G>A (p.Glu114Lys)
NM_000043.6(FAS):c.383G>A (p.Arg128Lys) rs2133514262
NM_000043.6(FAS):c.386G>A (p.Cys129Tyr)
NM_000043.6(FAS):c.38C>A (p.Thr13Lys)
NM_000043.6(FAS):c.391C>A (p.Pro131Thr)
NM_000043.6(FAS):c.397T>C (p.Phe133Leu)
NM_000043.6(FAS):c.398T>A (p.Phe133Tyr)
NM_000043.6(FAS):c.404G>T (p.Cys135Phe) rs1404280764
NM_000043.6(FAS):c.415G>A (p.Val139Ile)
NM_000043.6(FAS):c.418T>G (p.Cys140Gly)
NM_000043.6(FAS):c.430G>T (p.Asp144Tyr)
NM_000043.6(FAS):c.432C>T (p.Asp144=) rs574338716
NM_000043.6(FAS):c.444-5del rs751798922
NM_000043.6(FAS):c.466G>A (p.Glu156Lys)
NM_000043.6(FAS):c.473C>T (p.Thr158Ile)
NM_000043.6(FAS):c.478A>G (p.Thr160Ala) rs1589482084
NM_000043.6(FAS):c.485A>T (p.Asn162Ile) rs993150748
NM_000043.6(FAS):c.490A>G (p.Lys164Glu)
NM_000043.6(FAS):c.494G>A (p.Cys165Tyr)
NM_000043.6(FAS):c.506-11C>T
NM_000043.6(FAS):c.506-6C>G rs1589482683
NM_000043.6(FAS):c.506G>T (p.Gly169Val) rs1848488731
NM_000043.6(FAS):c.526T>C (p.Trp176Arg)
NM_000043.6(FAS):c.529C>T (p.Leu177Phe)
NM_000043.6(FAS):c.530T>G (p.Leu177Arg) rs1848490280
NM_000043.6(FAS):c.554C>T (p.Pro185Leu)
NM_000043.6(FAS):c.55T>C (p.Ser19Pro)
NM_000043.6(FAS):c.565_566insACAAGA (p.Trp189delinsTyrLysArg) rs2133530271
NM_000043.6(FAS):c.566_568delinsACAAGAATT (p.Trp189_Val190delinsTyrLysAsnLeu) rs1564695523
NM_000043.6(FAS):c.568+5G>C
NM_000043.6(FAS):c.56C>T (p.Ser19Leu)
NM_000043.6(FAS):c.575G>A (p.Arg192Lys)
NM_000043.6(FAS):c.634T>A (p.Ser212Thr) rs1848559695
NM_000043.6(FAS):c.635C>T (p.Ser212Phe)
NM_000043.6(FAS):c.641_642delinsAC (p.Thr214Asn) rs1848560803
NM_000043.6(FAS):c.641_642delinsTC (p.Thr214Ile) rs1848560803
NM_000043.6(FAS):c.652-12T>A rs1214604414
NM_000043.6(FAS):c.652G>A (p.Glu218Lys)
NM_000043.6(FAS):c.658G>A (p.Val220Met) rs755437276
NM_000043.6(FAS):c.670_676del (p.Leu224fs)
NM_000043.6(FAS):c.673T>A (p.Ser225Thr) rs891207457
NM_000043.6(FAS):c.676+12A>C rs777843173
NM_000043.6(FAS):c.676+3A>G rs1848626772
NM_000043.6(FAS):c.67G>A (p.Val23Ile)
NM_000043.6(FAS):c.680T>C (p.Val227Ala)
NM_000043.6(FAS):c.695A>G (p.Tyr232Cys) rs121913079
NM_000043.6(FAS):c.704C>T (p.Thr235Ile) rs2119445212
NM_000043.6(FAS):c.704_706del (p.Thr235del) rs1848666809
NM_000043.6(FAS):c.715G>T (p.Val239Phe)
NM_000043.6(FAS):c.719T>A (p.Met240Lys) rs2119445378
NM_000043.6(FAS):c.719T>G (p.Met240Arg)
NM_000043.6(FAS):c.734T>G (p.Val245Gly) rs200778245
NM_000043.6(FAS):c.746T>C (p.Val249Ala)
NM_000043.6(FAS):c.760G>T (p.Val254Phe) rs2119445796
NM_000043.6(FAS):c.761T>C (p.Val254Ala) rs1848671288
NM_000043.6(FAS):c.767A>G (p.Glu256Gly) rs2119445897
NM_000043.6(FAS):c.772A>G (p.Lys258Glu)
NM_000043.6(FAS):c.77A>G (p.Gln26Arg) rs2133470846
NM_000043.6(FAS):c.781G>A (p.Glu261Lys)
NM_000043.6(FAS):c.792T>G (p.Asn264Lys) rs2119446116
NM_000043.6(FAS):c.796A>C (p.Asn266His)
NM_000043.6(FAS):c.809C>T (p.Thr270Ile) rs121913081
NM_000043.6(FAS):c.817C>A (p.Gln273Lys) rs121913077
NM_000043.6(FAS):c.818A>G (p.Gln273Arg) rs1848677745
NM_000043.6(FAS):c.820A>G (p.Lys274Glu)
NM_000043.6(FAS):c.823G>A (p.Val275Ile)
NM_000043.6(FAS):c.828A>C (p.Gln276His)
NM_000043.6(FAS):c.836G>A (p.Arg279His)
NM_000043.6(FAS):c.841T>A (p.Trp281Arg)
NM_000043.6(FAS):c.841T>G (p.Trp281Gly)
NM_000043.6(FAS):c.84T>C (p.Thr28=) rs1848023281
NM_000043.6(FAS):c.857G>A (p.Gly286Glu)
NM_000043.6(FAS):c.862A>G (p.Lys288Glu)
NM_000043.6(FAS):c.866A>G (p.Glu289Gly)
NM_000043.6(FAS):c.869C>A (p.Ala290Glu) rs760993872
NM_000043.6(FAS):c.869C>T (p.Ala290Val)
NM_000043.6(FAS):c.874G>C (p.Asp292His)
NM_000043.6(FAS):c.878C>T (p.Thr293Ile) rs2119447206
NM_000043.6(FAS):c.900A>C (p.Lys300Asn)
NM_000043.6(FAS):c.901G>A (p.Ala301Thr) rs1449711911
NM_000043.6(FAS):c.905A>G (p.Asn302Ser)
NM_000043.6(FAS):c.908T>G (p.Leu303Arg)
NM_000043.6(FAS):c.910T>C (p.Cys304Arg)
NM_000043.6(FAS):c.913A>G (p.Thr305Ala)
NM_000043.6(FAS):c.929T>G (p.Ile310Ser) rs2119448150
NM_000043.6(FAS):c.953T>C (p.Ile318Thr) rs1848687177
NM_000043.6(FAS):c.963C>G (p.Asp321Glu)
NM_000043.6(FAS):c.976A>G (p.Asn326Asp) rs770595930
NM_000043.6(FAS):c.976A>T (p.Asn326Tyr)
NM_000043.6(FAS):c.97A>C (p.Lys33Gln) rs55766344
NM_000639.3(FASLG):c.*601GT[14] rs10640513
NM_000639.3(FASLG):c.*601GT[18] rs10640513
NM_000639.3(FASLG):c.*601GT[19] rs10640513
NM_000639.3(FASLG):c.135ACC[2] (p.Pro52_Pro53del)
NM_000639.3(FASLG):c.135ACC[3] (p.Pro53del) rs750792722
NM_000639.3(FASLG):c.144_152del (p.Pro51_Pro53del) rs777390517
NM_000639.3(FASLG):c.146C>T (p.Pro49Leu)
NM_000639.3(FASLG):c.147GCCACC[1] (p.Pro52_Pro53del) rs749237778
NM_000639.3(FASLG):c.147GCCACC[3] (p.Pro52_Pro53dup) rs749237778
NM_000639.3(FASLG):c.152C>A (p.Pro51Gln)
NM_000639.3(FASLG):c.156_179dup (p.Leu54_Pro61dup) rs1659086365
NM_000639.3(FASLG):c.162_188dup (p.Pro65_Leu66insProProProProProProLeuProPro)
NM_000639.3(FASLG):c.171GCC[2] (p.Pro61_Pro62del) rs772297337
NM_000639.3(FASLG):c.171GCC[5] (p.Pro62_Leu63insPro)
NM_000639.3(FASLG):c.190_213dup (p.Pro64_Leu71dup) rs1165102233
NM_000639.3(FASLG):c.200C>A (p.Pro67Gln)
NM_000639.3(FASLG):c.221G>A (p.Arg74Lys)
NM_000639.3(FASLG):c.228C>G (p.Asn76Lys)
NM_000639.3(FASLG):c.256A>G (p.Met86Val) rs1659091267
NM_000639.3(FASLG):c.300G>T (p.Gly100=) rs1314891100
NM_000639.3(FASLG):c.313T>C (p.Phe105Leu) rs2101806696
NM_000639.3(FASLG):c.344G>T (p.Arg115Leu)
NM_000639.3(FASLG):c.355A>T (p.Ser119Cys) rs1659104491
NM_000639.3(FASLG):c.362T>G (p.Met121Arg) rs1303419746
NM_000639.3(FASLG):c.368C>T (p.Thr123Ile)
NM_000639.3(FASLG):c.397C>T (p.His133Tyr) rs1414237389
NM_000639.3(FASLG):c.401C>G (p.Pro134Arg) rs766811734
NM_000639.3(FASLG):c.410C>T (p.Pro137Leu)
NM_000639.3(FASLG):c.415G>A (p.Glu139Lys)
NM_000639.3(FASLG):c.424_425delinsTT (p.Glu142Leu)
NM_000639.3(FASLG):c.42G>C (p.Trp14Cys) rs886045569
NM_000639.3(FASLG):c.452-13G>A
NM_000639.3(FASLG):c.452G>A (p.Gly151Asp)
NM_000639.3(FASLG):c.473T>C (p.Met158Thr)
NM_000639.3(FASLG):c.484T>C (p.Trp162Arg) rs2101810526
NM_000639.3(FASLG):c.54T>A (p.Ser18Arg) rs1659080899
NM_000639.3(FASLG):c.576_587del (p.Ser193_Tyr196del)
NM_000639.3(FASLG):c.592C>T (p.Arg198Trp)
NM_000639.3(FASLG):c.598C>A (p.Gln200Lys) rs2101810632
NM_000639.3(FASLG):c.628A>G (p.Lys210Glu)
NM_000639.3(FASLG):c.631G>A (p.Val211Ile)
NM_000639.3(FASLG):c.637A>G (p.Met213Val)
NM_000639.3(FASLG):c.639G>A (p.Met213Ile)
NM_000639.3(FASLG):c.653A>G (p.Tyr218Cys)
NM_000639.3(FASLG):c.659A>G (p.Gln220Arg) rs1659249691
NM_000639.3(FASLG):c.690G>A (p.Met230Ile) rs999784381
NM_000639.3(FASLG):c.743T>C (p.Val248Ala) rs1571333759
NM_000639.3(FASLG):c.749A>T (p.Asn250Ile) rs376317481
NM_000639.3(FASLG):c.796C>G (p.Leu266Val)
NM_000639.3(FASLG):c.802A>T (p.Asn268Tyr)
NM_000639.3(FASLG):c.834A>T (p.Leu278Phe) rs1571333854
NM_000639.3(FASLG):c.91C>T (p.Pro31Ser)
NM_000639.3(FASLG):c.95G>C (p.Cys32Ser) rs1659082010
NM_001141945.3(ACTA2):c.-24+236C>T rs886047457
NM_001141945.3(ACTA2):c.-24+399C>T rs886047456
NM_032977.4(CASP10):c.*2295T>A rs886055420
NM_032977.4(CASP10):c.*2594del rs41351949
NM_032977.4(CASP10):c.*2927_*2928del rs886055426

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