ClinVar Miner

List of variants in gene PRF1 reported as uncertain significance for immune system disorder

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 255
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HGVS dbSNP gnomAD frequency
NM_001083116.3(PRF1):c.272C>T (p.Ala91Val) rs35947132 0.02791
NM_001083116.3(PRF1):c.755A>G (p.Asn252Ser) rs28933375 0.00756
NM_001083116.3(PRF1):c.-109G>A rs114178404 0.00317
NM_001083116.3(PRF1):c.*46T>C rs140956842 0.00284
NM_001083116.3(PRF1):c.10C>T (p.Arg4Cys) rs12161733 0.00220
NM_001083116.3(PRF1):c.*521C>A rs193221010 0.00194
NM_001083116.3(PRF1):c.*376G>A rs191816002 0.00161
NM_001083116.3(PRF1):c.1620A>G (p.Gln540=) rs149776121 0.00083
NM_001083116.3(PRF1):c.1310C>T (p.Ala437Val) rs138126912 0.00073
NM_001083116.3(PRF1):c.286C>A (p.Arg96=) rs144024245 0.00045
NM_001083116.3(PRF1):c.368G>A (p.Arg123His) rs139336186 0.00044
NM_001083116.3(PRF1):c.807C>T (p.His269=) rs147453010 0.00039
NM_001083116.3(PRF1):c.1140G>A (p.Pro380=) rs144926997 0.00035
NM_001083116.3(PRF1):c.1000G>A (p.Gly334Ser) rs145463632 0.00029
NM_001083116.3(PRF1):c.1106C>T (p.Thr369Met) rs201584464 0.00029
NM_001083116.3(PRF1):c.163C>T (p.Arg55Cys) rs201032696 0.00029
NM_001083116.3(PRF1):c.1070G>A (p.Arg357Gln) rs140787739 0.00027
NM_001083116.3(PRF1):c.161G>A (p.Arg54His) rs150357196 0.00025
NM_001083116.3(PRF1):c.563C>T (p.Pro188Leu) rs150156593 0.00019
NM_001083116.3(PRF1):c.79G>A (p.Ala27Thr) rs147051158 0.00017
NM_001083116.3(PRF1):c.*441G>A rs375066000 0.00016
NM_001083116.3(PRF1):c.1202C>T (p.Ala401Val) rs144242324 0.00016
NM_001083116.3(PRF1):c.704C>T (p.Ala235Val) rs142403457 0.00016
NM_001083116.3(PRF1):c.674G>A (p.Arg225Gln) rs140281371 0.00015
NM_001083116.3(PRF1):c.866C>T (p.Thr289Met) rs150628656 0.00015
NM_001083116.3(PRF1):c.1262T>G (p.Phe421Cys) rs200534908 0.00014
NM_001083116.3(PRF1):c.356G>A (p.Arg119Gln) rs777662073 0.00014
NM_001083116.3(PRF1):c.630C>T (p.Pro210=) rs144004164 0.00014
NM_001083116.3(PRF1):c.1112G>A (p.Arg371Lys) rs199522390 0.00013
NM_001083116.3(PRF1):c.695G>A (p.Arg232His) rs747380397 0.00013
NM_001083116.3(PRF1):c.1144C>T (p.Pro382Ser) rs377367451 0.00011
NM_001083116.3(PRF1):c.376C>T (p.Arg126Cys) rs34279237 0.00011
NM_001083116.3(PRF1):c.310C>T (p.Arg104Cys) rs547723649 0.00010
NM_001083116.3(PRF1):c.1153C>T (p.Arg385Trp) rs551046401 0.00009
NM_001083116.3(PRF1):c.1350G>A (p.Thr450=) rs200312496 0.00009
NM_001083116.3(PRF1):c.529C>T (p.Arg177Cys) rs201468340 0.00009
NM_001083116.3(PRF1):c.545A>G (p.His182Arg) rs200383720 0.00007
NM_001083116.3(PRF1):c.557C>T (p.Thr186Ile) rs751796432 0.00007
NM_001083116.3(PRF1):c.808G>A (p.Gly270Ser) rs143043887 0.00007
NM_001083116.3(PRF1):c.1117C>T (p.Arg373Cys) rs374588624 0.00006
NM_001083116.3(PRF1):c.1207A>G (p.Thr403Ala) rs371232368 0.00006
NM_001083116.3(PRF1):c.1636C>G (p.Pro546Ala) rs550799905 0.00006
NM_001083116.3(PRF1):c.189A>C (p.Thr63=) rs759983785 0.00006
NM_001083116.3(PRF1):c.211G>A (p.Gly71Ser) rs142059134 0.00006
NM_001083116.3(PRF1):c.961G>A (p.Gly321Arg) rs145234214 0.00006
NM_001083116.3(PRF1):c.*664A>G rs886047106 0.00005
NM_001083116.3(PRF1):c.1111A>G (p.Arg371Gly) rs566891566 0.00005
NM_001083116.3(PRF1):c.164G>A (p.Arg55His) rs140385034 0.00005
NM_001083116.3(PRF1):c.591C>T (p.Leu197=) rs767273601 0.00005
NM_001083116.3(PRF1):c.749C>T (p.Thr250Met) rs775966864 0.00005
NM_001083116.3(PRF1):c.796A>G (p.Ile266Val) rs200824018 0.00005
NM_001083116.3(PRF1):c.-82G>A rs886047112 0.00004
NM_001083116.3(PRF1):c.1558C>T (p.Arg520Cys) rs377162454 0.00004
NM_001083116.3(PRF1):c.1628dup (p.Glu545fs) rs1564723449 0.00004
NM_001083116.3(PRF1):c.259C>T (p.Arg87Cys) rs781070813 0.00004
NM_001083116.3(PRF1):c.382G>A (p.Asp128Asn) rs776708052 0.00004
NM_001083116.3(PRF1):c.570C>A (p.His190Gln) rs764108625 0.00004
NM_001083116.3(PRF1):c.592G>A (p.Gly198Arg) rs759235360 0.00004
NM_001083116.3(PRF1):c.609C>A (p.His203Gln) rs772537976 0.00004
NM_001083116.3(PRF1):c.614A>G (p.Asn205Ser) rs770354747 0.00004
NM_001083116.3(PRF1):c.65C>T (p.Pro22Leu) rs528937278 0.00004
NM_001083116.3(PRF1):c.718C>T (p.Arg240Cys) rs754850577 0.00004
NM_001083116.3(PRF1):c.719G>A (p.Arg240His) rs751390468 0.00004
NM_001083116.3(PRF1):c.824A>C (p.Glu275Ala) rs763119215 0.00004
NM_001083116.3(PRF1):c.97C>T (p.Arg33Cys) rs777782785 0.00004
NM_001083116.3(PRF1):c.-41C>T rs886047110 0.00003
NM_001083116.3(PRF1):c.1122G>A (p.Trp374Ter) rs104894176 0.00003
NM_001083116.3(PRF1):c.112G>A (p.Val38Met) rs201909472 0.00003
NM_001083116.3(PRF1):c.1136G>A (p.Arg379Gln) rs746431351 0.00003
NM_001083116.3(PRF1):c.367C>T (p.Arg123Cys) rs370935432 0.00003
NM_001083116.3(PRF1):c.407C>G (p.Thr136Ser) rs1031096686 0.00003
NM_001083116.3(PRF1):c.98G>A (p.Arg33His) rs531407289 0.00003
NM_001083116.2(PRF1):c.-134A>C rs982795402 0.00002
NM_001083116.3(PRF1):c.1196G>T (p.Gly399Val) rs749729753 0.00002
NM_001083116.3(PRF1):c.1305G>A (p.Thr435=) rs200167080 0.00002
NM_001083116.3(PRF1):c.1444G>T (p.Val482Phe) rs760962796 0.00002
NM_001083116.3(PRF1):c.542T>C (p.Phe181Ser) rs770131011 0.00002
NM_001083116.3(PRF1):c.622A>T (p.Thr208Ser) rs769116034 0.00002
NM_001083116.3(PRF1):c.631G>A (p.Ala211Thr) rs762026835 0.00002
NM_001083116.3(PRF1):c.886T>C (p.Tyr296His) rs148237800 0.00002
NM_001083116.3(PRF1):c.89A>C (p.Glu30Ala) rs779192397 0.00002
NM_001083116.3(PRF1):c.*176A>T rs573468737 0.00001
NM_001083116.3(PRF1):c.-53C>T rs886047111 0.00001
NM_001083116.3(PRF1):c.1018G>A (p.Asp340Asn) rs754079962 0.00001
NM_001083116.3(PRF1):c.1039C>A (p.His347Asn) rs556996220 0.00001
NM_001083116.3(PRF1):c.1069C>T (p.Arg357Trp) rs757636984 0.00001
NM_001083116.3(PRF1):c.1097A>G (p.Gln366Arg) rs957245579 0.00001
NM_001083116.3(PRF1):c.111C>T (p.Phe37=) rs547321451 0.00001
NM_001083116.3(PRF1):c.1135C>T (p.Arg379Trp) rs896384244 0.00001
NM_001083116.3(PRF1):c.1154G>A (p.Arg385Gln) rs781476866 0.00001
NM_001083116.3(PRF1):c.1199C>T (p.Ser400Leu) rs778335116 0.00001
NM_001083116.3(PRF1):c.1211C>T (p.Thr404Ile) rs779956870 0.00001
NM_001083116.3(PRF1):c.1219T>G (p.Cys407Gly) rs753751595 0.00001
NM_001083116.3(PRF1):c.1313A>G (p.Tyr438Cys) rs752523287 0.00001
NM_001083116.3(PRF1):c.1339G>C (p.Glu447Gln) rs145513232 0.00001
NM_001083116.3(PRF1):c.1365C>A (p.Asp455Glu) rs777094015 0.00001
NM_001083116.3(PRF1):c.1424G>A (p.Gly475Glu) rs779584225 0.00001
NM_001083116.3(PRF1):c.142G>A (p.Val48Met) rs1283597219 0.00001
NM_001083116.3(PRF1):c.1501C>T (p.Pro501Ser) rs200589152 0.00001
NM_001083116.3(PRF1):c.1594G>A (p.Gly532Ser) rs1317922602 0.00001
NM_001083116.3(PRF1):c.1660G>A (p.Val554Met) rs768505698 0.00001
NM_001083116.3(PRF1):c.181G>A (p.Val61Met) rs1564725427 0.00001
NM_001083116.3(PRF1):c.194G>A (p.Arg65Lys) rs750244443 0.00001
NM_001083116.3(PRF1):c.221C>T (p.Thr74Ile) rs537165894 0.00001
NM_001083116.3(PRF1):c.227G>A (p.Cys76Tyr) rs776657932 0.00001
NM_001083116.3(PRF1):c.247G>A (p.Gly83Ser) rs773409738 0.00001
NM_001083116.3(PRF1):c.260G>A (p.Arg87His) rs557951406 0.00001
NM_001083116.3(PRF1):c.341C>T (p.Thr114Ile) rs748315806 0.00001
NM_001083116.3(PRF1):c.358G>A (p.Asp120Asn) rs1284583637 0.00001
NM_001083116.3(PRF1):c.431A>G (p.His144Arg) rs765636779 0.00001
NM_001083116.3(PRF1):c.512C>A (p.Thr171Asn) rs1455960914 0.00001
NM_001083116.3(PRF1):c.518C>T (p.Thr173Met) rs754180700 0.00001
NM_001083116.3(PRF1):c.539+5G>A rs375408308 0.00001
NM_001083116.3(PRF1):c.559C>T (p.Pro187Ser) rs780042742 0.00001
NM_001083116.3(PRF1):c.55G>A (p.Val19Ile) rs772896823 0.00001
NM_001083116.3(PRF1):c.604C>T (p.His202Tyr) rs200332545 0.00001
NM_001083116.3(PRF1):c.616G>A (p.Ala206Thr) rs781717112 0.00001
NM_001083116.3(PRF1):c.706C>T (p.Leu236Phe) rs1373180931 0.00001
NM_001083116.3(PRF1):c.742G>A (p.Gly248Arg) rs764722375 0.00001
NM_001083116.3(PRF1):c.74C>G (p.Thr25Arg) rs775934637 0.00001
NM_001083116.3(PRF1):c.791T>C (p.Val264Ala) rs764984064 0.00001
NM_001083116.3(PRF1):c.83G>A (p.Arg28His) rs1230053761 0.00001
NM_001083116.3(PRF1):c.853A>C (p.Lys285Gln) rs753226704 0.00001
NM_001083116.3(PRF1):c.86C>T (p.Ser29Leu) rs1342253892 0.00001
NM_001083116.3(PRF1):c.916G>A (p.Gly306Ser) rs763002067 0.00001
NM_001083116.3(PRF1):c.992C>T (p.Ser331Leu) rs769364825 0.00001
NC_000010.10:g.(?_72357809)_(72360658_?)dup
NM_001083116.1(PRF1):c.*715T>C rs917373681
NM_001083116.3(PRF1):c.*112G>A rs886047108
NM_001083116.3(PRF1):c.*193A>G rs1219553824
NM_001083116.3(PRF1):c.*367G>A rs146245380
NM_001083116.3(PRF1):c.*486T>C rs886047107
NM_001083116.3(PRF1):c.*540T>C rs1848140864
NM_001083116.3(PRF1):c.*559T>G rs530803679
NM_001083116.3(PRF1):c.1005C>A (p.Ser335Arg)
NM_001083116.3(PRF1):c.1025C>T (p.Thr342Ile)
NM_001083116.3(PRF1):c.1033C>A (p.Pro345Thr) rs200641752
NM_001083116.3(PRF1):c.1034C>G (p.Pro345Arg)
NM_001083116.3(PRF1):c.1042G>A (p.Val348Met) rs776338709
NM_001083116.3(PRF1):c.1042G>C (p.Val348Leu)
NM_001083116.3(PRF1):c.1049T>C (p.Leu350Pro) rs1848169210
NM_001083116.3(PRF1):c.1064C>G (p.Pro355Arg) rs779488735
NM_001083116.3(PRF1):c.1117C>G (p.Arg373Gly) rs374588624
NM_001083116.3(PRF1):c.112G>C (p.Val38Leu) rs201909472
NM_001083116.3(PRF1):c.1132A>T (p.Ser378Cys)
NM_001083116.3(PRF1):c.1134C>A (p.Ser378Arg)
NM_001083116.3(PRF1):c.1164C>A (p.Ser388Arg) rs761607073
NM_001083116.3(PRF1):c.1169G>A (p.Arg390Gln)
NM_001083116.3(PRF1):c.1210A>G (p.Thr404Ala)
NM_001083116.3(PRF1):c.1238G>T (p.Gly413Val) rs1382419327
NM_001083116.3(PRF1):c.1244C>G (p.Ala415Gly)
NM_001083116.3(PRF1):c.1265T>C (p.Ile422Thr) rs2132475412
NM_001083116.3(PRF1):c.1268A>C (p.Gln423Pro)
NM_001083116.3(PRF1):c.1277G>C (p.Gly426Ala) rs1564723771
NM_001083116.3(PRF1):c.1280T>G (p.Leu427Arg)
NM_001083116.3(PRF1):c.1283G>T (p.Trp428Leu) rs747646127
NM_001083116.3(PRF1):c.1322T>C (p.Leu441Pro) rs1848159155
NM_001083116.3(PRF1):c.1324T>C (p.Phe442Leu)
NM_001083116.3(PRF1):c.132C>A (p.Ala44=) rs181323749
NM_001083116.3(PRF1):c.1334G>A (p.Gly445Asp) rs754711256
NM_001083116.3(PRF1):c.1335C>T (p.Gly445=)
NM_001083116.3(PRF1):c.1378A>G (p.Ile460Val)
NM_001083116.3(PRF1):c.1390C>T (p.Arg464Trp) rs754602851
NM_001083116.3(PRF1):c.140G>A (p.Gly47Asp)
NM_001083116.3(PRF1):c.1411C>T (p.Leu471Phe)
NM_001083116.3(PRF1):c.1427G>A (p.Gly476Glu) rs377665096
NM_001083116.3(PRF1):c.1429C>A (p.Pro477Thr) rs1023934247
NM_001083116.3(PRF1):c.1429C>G (p.Pro477Ala) rs1023934247
NM_001083116.3(PRF1):c.1430C>T (p.Pro477Leu)
NM_001083116.3(PRF1):c.1450G>A (p.Asp484Asn)
NM_001083116.3(PRF1):c.1454A>G (p.Gln485Arg)
NM_001083116.3(PRF1):c.1477C>T (p.Leu493Phe) rs1848155946
NM_001083116.3(PRF1):c.148G>C (p.Val50Leu)
NM_001083116.3(PRF1):c.1490G>C (p.Cys497Ser)
NM_001083116.3(PRF1):c.1497G>C (p.Gln499His)
NM_001083116.3(PRF1):c.1528T>C (p.Cys510Arg) rs1848154937
NM_001083116.3(PRF1):c.1540C>G (p.His514Asp)
NM_001083116.3(PRF1):c.1542T>A (p.His514Gln) rs1202935059
NM_001083116.3(PRF1):c.1589G>A (p.Gly530Glu) rs1350760396
NM_001083116.3(PRF1):c.167C>G (p.Ser56Trp) rs1473399571
NM_001083116.3(PRF1):c.170G>T (p.Gly57Val) rs2132478554
NM_001083116.3(PRF1):c.19C>T (p.Leu7Phe) rs767449445
NM_001083116.3(PRF1):c.203G>A (p.Arg68Gln)
NM_001083116.3(PRF1):c.205C>T (p.Pro69Ser) rs1848215226
NM_001083116.3(PRF1):c.208G>A (p.Asp70Asn) rs555317258
NM_001083116.3(PRF1):c.217T>C (p.Cys73Arg) rs1848214400
NM_001083116.3(PRF1):c.254T>C (p.Leu85Pro)
NM_001083116.3(PRF1):c.262C>A (p.Leu88Met)
NM_001083116.3(PRF1):c.26G>T (p.Gly9Val) rs1848221752
NM_001083116.3(PRF1):c.274C>T (p.Leu92Phe)
NM_001083116.3(PRF1):c.277A>G (p.Thr93Ala)
NM_001083116.3(PRF1):c.278C>A (p.Thr93Asn) rs1054187706
NM_001083116.3(PRF1):c.286C>T (p.Arg96Trp) rs144024245
NM_001083116.3(PRF1):c.287G>A (p.Arg96Gln)
NM_001083116.3(PRF1):c.311G>A (p.Arg104His) rs139225004
NM_001083116.3(PRF1):c.319A>C (p.Thr107Pro)
NM_001083116.3(PRF1):c.326C>T (p.Ala109Val) rs1589233312
NM_001083116.3(PRF1):c.343G>A (p.Glu115Lys) rs1399537466
NM_001083116.3(PRF1):c.34C>G (p.Leu12Val)
NM_001083116.3(PRF1):c.355C>T (p.Arg119Trp) rs749110507
NM_001083116.3(PRF1):c.35_46del (p.Leu12_Leu15del) rs1848221319
NM_001083116.3(PRF1):c.380A>G (p.Asn127Ser) rs202091142
NM_001083116.3(PRF1):c.391G>T (p.Val131Phe) rs761941942
NM_001083116.3(PRF1):c.394G>T (p.Gly132Trp) rs201382038
NM_001083116.3(PRF1):c.3G>T (p.Met1Ile) rs758728749
NM_001083116.3(PRF1):c.402C>A (p.Asp134Glu)
NM_001083116.3(PRF1):c.403G>T (p.Val135Leu) rs12263572
NM_001083116.3(PRF1):c.409C>T (p.Pro137Ser)
NM_001083116.3(PRF1):c.434T>C (p.Val145Ala) rs535296791
NM_001083116.3(PRF1):c.442G>A (p.Ala148Thr) rs1208723557
NM_001083116.3(PRF1):c.449C>T (p.Ser150Leu) rs773267292
NM_001083116.3(PRF1):c.46C>A (p.Pro16Thr) rs1031606439
NM_001083116.3(PRF1):c.46C>T (p.Pro16Ser) rs1031606439
NM_001083116.3(PRF1):c.479A>C (p.Gln160Pro) rs1848204757
NM_001083116.3(PRF1):c.47C>T (p.Pro16Leu) rs751379475
NM_001083116.3(PRF1):c.481A>G (p.Lys161Glu) rs1589233127
NM_001083116.3(PRF1):c.495C>G (p.Asp165Glu)
NM_001083116.3(PRF1):c.518C>A (p.Thr173Lys)
NM_001083116.3(PRF1):c.519G>A (p.Thr173=) rs112883709
NM_001083116.3(PRF1):c.519G>C (p.Thr173=) rs112883709
NM_001083116.3(PRF1):c.530G>A (p.Arg177His)
NM_001083116.3(PRF1):c.53C>A (p.Pro18His) rs1357790767
NM_001083116.3(PRF1):c.550G>A (p.Val184Ile) rs1554868125
NM_001083116.3(PRF1):c.560C>T (p.Pro187Leu)
NM_001083116.3(PRF1):c.568C>T (p.His190Tyr)
NM_001083116.3(PRF1):c.571C>G (p.Pro191Ala)
NM_001083116.3(PRF1):c.587C>T (p.Ala196Val)
NM_001083116.3(PRF1):c.605A>T (p.His202Leu) rs1848182798
NM_001083116.3(PRF1):c.620C>T (p.Ser207Phe)
NM_001083116.3(PRF1):c.640A>G (p.Arg214Gly)
NM_001083116.3(PRF1):c.647T>C (p.Ile216Thr)
NM_001083116.3(PRF1):c.64C>T (p.Pro22Ser) rs1389748708
NM_001083116.3(PRF1):c.671T>C (p.Ile224Thr) rs1419243128
NM_001083116.3(PRF1):c.674G>C (p.Arg225Pro) rs140281371
NM_001083116.3(PRF1):c.677C>A (p.Ala226Asp)
NM_001083116.3(PRF1):c.722C>A (p.Thr241Asn)
NM_001083116.3(PRF1):c.72C>A (p.His24Gln) rs1848220444
NM_001083116.3(PRF1):c.763G>A (p.Glu255Lys) rs1324577129
NM_001083116.3(PRF1):c.797T>C (p.Ile266Thr) rs763667216
NM_001083116.3(PRF1):c.806A>C (p.His269Pro) rs761293997
NM_001083116.3(PRF1):c.821_822delinsTT (p.Ala274Val)
NM_001083116.3(PRF1):c.827C>T (p.Ala276Val)
NM_001083116.3(PRF1):c.82C>G (p.Arg28Gly) rs141660796
NM_001083116.3(PRF1):c.836G>T (p.Cys279Phe) rs104894182
NM_001083116.3(PRF1):c.859A>C (p.Lys287Gln) rs2132476286
NM_001083116.3(PRF1):c.884C>A (p.Thr295Asn)
NM_001083116.3(PRF1):c.889C>T (p.Arg297Trp)
NM_001083116.3(PRF1):c.890G>A (p.Arg297Gln)
NM_001083116.3(PRF1):c.911T>C (p.Val304Ala) rs1163295281
NM_001083116.3(PRF1):c.937G>A (p.Asp313Asn)
NM_001083116.3(PRF1):c.941T>C (p.Leu314Pro) rs886047109
NM_001083116.3(PRF1):c.946T>C (p.Phe316Leu) rs1848173379
NM_001083116.3(PRF1):c.948C>A (p.Phe316Leu) rs201235771
NM_001083116.3(PRF1):c.974A>G (p.Tyr325Cys) rs1468823939
NM_001083116.3(PRF1):c.980C>T (p.Ala327Val) rs371021342

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