ClinVar Miner

List of variants reported as uncertain significance for Familial hemophagocytic lymphohistiocytosis 2 by Illumina Laboratory Services, Illumina

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Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_001083116.3(PRF1):c.-109G>A rs114178404 0.00296
NM_001083116.3(PRF1):c.*46T>C rs140956842 0.00285
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.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.1070G>A (p.Arg357Gln) rs140787739 0.00029
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.674G>A (p.Arg225Gln) rs140281371 0.00015
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.1144C>T (p.Pro382Ser) rs377367451 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.*664A>G rs886047106 0.00007
NM_001083116.3(PRF1):c.189A>C (p.Thr63=) rs759983785 0.00006
NM_001083116.3(PRF1):c.961G>A (p.Gly321Arg) rs145234214 0.00006
NM_001083116.3(PRF1):c.591C>T (p.Leu197=) rs767273601 0.00005
NM_001083116.3(PRF1):c.-82G>A rs886047112 0.00004
NM_001083116.3(PRF1):c.112G>A (p.Val38Met) rs201909472 0.00003
NM_001083116.3(PRF1):c.592G>A (p.Gly198Arg) rs759235360 0.00003
NM_001083116.2(PRF1):c.-134A>C rs982795402 0.00002
NM_001083116.3(PRF1):c.1305G>A (p.Thr435=) rs200167080 0.00002
NM_001083116.3(PRF1):c.*176A>T rs573468737 0.00001
NM_001083116.3(PRF1):c.-41C>T rs886047110 0.00001
NM_001083116.3(PRF1):c.-53C>T rs886047111 0.00001
NM_001083116.3(PRF1):c.1111A>G (p.Arg371Gly) rs566891566 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.55G>A (p.Val19Ile) rs772896823 0.00001
NM_001083116.3(PRF1):c.946T>C (p.Phe316Leu) rs1848173379 0.00001
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.132C>A (p.Ala44=) rs181323749
NM_001083116.3(PRF1):c.194G>A (p.Arg65Lys) rs750244443
NM_001083116.3(PRF1):c.3G>T (p.Met1Ile) rs758728749
NM_001083116.3(PRF1):c.434T>C (p.Val145Ala) rs535296791
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.941T>C (p.Leu314Pro) rs886047109

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