ClinVar Miner

List of variants studied for X-linked lymphoproliferative syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 123
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HGVS dbSNP gnomAD frequency
NM_002351.5(SH2D1A):c.*863T>A rs7876065 0.84013
NM_001167.4(XIAP):c.*5892T>G rs6648556 0.64022
NM_001167.4(XIAP):c.*4610C>T rs9856 0.60235
NM_001167.4(XIAP):c.*5241A>T rs5958343 0.59444
NM_002351.4(SH2D1A):c.-346C>T rs12164382 0.43694
NM_001167.4(XIAP):c.1268A>C (p.Gln423Pro) rs5956583 0.38953
NM_001167.4(XIAP):c.*5506T>A rs201236246 0.21442
NM_001167.4(XIAP):c.*12A>G rs28382740 0.18976
NM_001167.4(XIAP):c.*6251C>T rs28382755 0.18915
NM_001167.4(XIAP):c.*2845C>T rs17330644 0.18875
NM_001167.4(XIAP):c.*2674A>C rs17330637 0.18783
NM_001167.4(XIAP):c.*4188T>C rs28382752 0.18781
NM_001167.4(XIAP):c.*4884C>T rs8371 0.18781
NM_001167.4(XIAP):c.*3383T>C rs17330651 0.18705
NM_001167.4(XIAP):c.*1676T>C rs17334746 0.18591
NM_001167.4(XIAP):c.*3642T>G rs28382747 0.17981
NM_001167.4(XIAP):c.*4015A>G rs28382749 0.17684
NM_001167.4(XIAP):c.*4078C>A rs28382751 0.17448
NM_002351.5(SH2D1A):c.*1321A>G rs6649207 0.16862
NM_001167.4(XIAP):c.*803G>T rs28382742 0.16745
NM_001167.4(XIAP):c.*1393G>A rs28382744 0.16288
NM_001167.4(XIAP):c.*80G>C rs12838858 0.06523
NM_002351.5(SH2D1A):c.*212G>A rs5958475 0.06359
NM_001167.4(XIAP):c.*1958G>A rs41309540 0.04864
NM_001167.4(XIAP):c.*6422T>A rs5911725 0.04760
NM_001167.4(XIAP):c.*5069A>T rs5956584 0.04730
NM_002351.5(SH2D1A):c.*866A>G rs767771720 0.02353
NM_001167.4(XIAP):c.*3611C>T rs28382746 0.01629
NM_001167.4(XIAP):c.*5368C>T rs138392322 0.01491
NM_001167.4(XIAP):c.*5756C>T rs149254603 0.01472
NM_001167.4(XIAP):c.*4658C>T rs28382753 0.01131
NM_001167.4(XIAP):c.*6357G>A rs41312771 0.00988
NM_002351.5(SH2D1A):c.*1100C>A rs141513491 0.00923
NM_002351.4(SH2D1A):c.-318G>C rs146024883 0.00649
NM_001167.4(XIAP):c.*4889T>C rs185939201 0.00412
NM_001167.4(XIAP):c.*6549C>T rs193060081 0.00342
NM_001167.4(XIAP):c.*482G>A rs144625027 0.00303
NM_002351.4(SH2D1A):c.-247G>A rs190166840 0.00231
NM_001167.4(XIAP):c.*5796C>T rs745822519 0.00191
NM_001167.4(XIAP):c.*3040G>A rs187400208 0.00188
NM_002351.5(SH2D1A):c.*1755G>A rs1049817964 0.00163
NM_001167.4(XIAP):c.*3572A>G rs185763794 0.00137
NM_001167.4(XIAP):c.*5505G>A rs28745607 0.00134
NM_002351.5(SH2D1A):c.*862T>A rs774701387 0.00127
NM_001167.4(XIAP):c.*4092G>A rs773227715 0.00125
NM_001167.4(XIAP):c.*1904G>A rs751700391 0.00118
NM_001167.4(XIAP):c.*2622G>A rs778277646 0.00105
NM_002351.4(SH2D1A):c.-124T>A rs148700291 0.00092
NM_001167.4(XIAP):c.*870G>C rs185823003 0.00084
NM_001167.4(XIAP):c.*2729C>G rs745491539 0.00068
NM_001167.4(XIAP):c.769C>G (p.Pro257Ala) rs138783302 0.00068
NM_002351.5(SH2D1A):c.-74T>A rs142160401 0.00059
NM_001167.4(XIAP):c.*4024C>T rs28382750 0.00050
NM_001167.4(XIAP):c.1408A>T (p.Thr470Ser) rs143165174 0.00050
NM_001167.4(XIAP):c.*2521A>G rs746553843 0.00046
NM_001167.4(XIAP):c.*4380G>A rs181285458 0.00038
NM_001167.4(XIAP):c.*6220C>T rs370656891 0.00037
NM_002351.5(SH2D1A):c.*1601T>C rs369322350 0.00036
NM_001167.4(XIAP):c.*3408G>T rs746713249 0.00035
NM_001167.4(XIAP):c.309G>A (p.Thr103=) rs140230812 0.00034
NM_002351.5(SH2D1A):c.*1689C>A rs186082107 0.00031
NM_002351.5(SH2D1A):c.346+3A>G rs199706936 0.00031
NM_001167.4(XIAP):c.*2682T>G rs191855689 0.00030
NM_001167.4(XIAP):c.*5331G>A rs777622382 0.00029
NM_001167.4(XIAP):c.*6010G>A rs764617684 0.00027
NM_001167.4(XIAP):c.*3544G>A rs747125911 0.00025
NM_001167.4(XIAP):c.*3707T>G rs766102484 0.00024
NM_001167.4(XIAP):c.*1705A>G rs766498412 0.00018
NM_001167.4(XIAP):c.*5140C>T rs762047770 0.00014
NM_001167.4(XIAP):c.*1481C>T rs1483818489 0.00011
NM_001167.4(XIAP):c.*1940T>C rs755490620 0.00009
NM_001167.4(XIAP):c.*6221G>A rs757596272 0.00009
NM_002351.5(SH2D1A):c.*511A>G rs921205093 0.00009
NM_001167.4(XIAP):c.*3001T>A rs765082277 0.00008
NM_002351.5(SH2D1A):c.*110T>C rs746586521 0.00008
NM_001167.4(XIAP):c.962C>G (p.Ala321Gly) rs182340753 0.00007
NM_001167.4(XIAP):c.1100A>G (p.Asp367Gly) rs200273554 0.00006
NM_001167.4(XIAP):c.*5295A>T rs755335432 0.00005
NM_001167.4(XIAP):c.*5870G>T rs187282700 0.00005
NM_001167.4(XIAP):c.933G>A (p.Lys311=) rs749597959 0.00005
NM_002351.5(SH2D1A):c.*1077G>A rs778956197 0.00005
NM_002351.5(SH2D1A):c.*1192A>G rs1355524556 0.00005
NM_002351.5(SH2D1A):c.*647G>A rs770056649 0.00005
NM_001167.4(XIAP):c.*2488C>T rs1192771463 0.00003
NM_001167.4(XIAP):c.*253C>T rs1057515749 0.00003
NM_001167.4(XIAP):c.*3845A>G rs958117071 0.00003
NM_002351.5(SH2D1A):c.*257A>T rs556331824 0.00003
NM_002351.5(SH2D1A):c.*860T>C rs1057515764 0.00003
NM_001167.4(XIAP):c.*4691G>A rs982138652 0.00002
NM_001167.4(XIAP):c.*5010A>G rs770776017 0.00002
NM_001167.4(XIAP):c.-142G>C rs1452980309 0.00002
NM_001167.4(XIAP):c.*1869G>A rs1225539193 0.00001
NM_001167.4(XIAP):c.*1950C>T rs1404651190 0.00001
NM_001167.4(XIAP):c.*2944C>A rs776649984 0.00001
NM_001167.4(XIAP):c.*3205T>C rs777738703 0.00001
NM_001167.4(XIAP):c.*3673C>T rs1304742588 0.00001
NM_001167.4(XIAP):c.*3997A>G rs1057515755 0.00001
NM_001167.4(XIAP):c.*5986G>A rs1037241174 0.00001
NM_001167.4(XIAP):c.*6009C>T rs1183404777 0.00001
NM_001167.4(XIAP):c.*6256T>C rs972613558 0.00001
NM_001167.4(XIAP):c.*6566G>A rs770051891 0.00001
NM_002351.5(SH2D1A):c.*26A>T rs1240769541 0.00001
NM_001167.4(XIAP):c.*1298G>C rs41312612
NM_001167.4(XIAP):c.*2401C>T rs771727226
NM_001167.4(XIAP):c.*2901T>C rs1057515751
NM_001167.4(XIAP):c.*3201A>G rs1057515752
NM_001167.4(XIAP):c.*3547C>G rs775436856
NM_001167.4(XIAP):c.*3573G>A rs1037858715
NM_001167.4(XIAP):c.*3589A>C rs2053592868
NM_001167.4(XIAP):c.*4149A>G rs770722290
NM_001167.4(XIAP):c.*4336T>G rs2053603008
NM_001167.4(XIAP):c.*579G>A rs758981602
NM_001167.4(XIAP):c.*6211C>T rs1022688672
NM_001167.4(XIAP):c.*6216G>A rs1057515760
NM_001167.4(XIAP):c.*866A>G rs2053568767
NM_001167.4(XIAP):c.*93T>G rs2053562277
NM_001167.4(XIAP):c.1237G>A (p.Asp413Asn) rs199610221
NM_001167.4(XIAP):c.1317G>C (p.Glu439Asp) rs2053559883
NM_002351.5(SH2D1A):c.*1753A>G rs867794698
NM_002351.5(SH2D1A):c.*759G>C rs1057515763
NM_002351.5(SH2D1A):c.371G>C (p.Cys124Ser) rs2060068721
NM_002351.5(SH2D1A):c.48C>A (p.Gly16=) rs72610640
NM_002351.5(SH2D1A):c.48C>T (p.Gly16=) rs72610640

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