ClinVar Miner

List of variants reported as uncertain significance 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: 52
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HGVS dbSNP gnomAD frequency
NM_002351.5(SH2D1A):c.*1755G>A rs1049817964 0.00163
NM_002351.5(SH2D1A):c.*862T>A rs774701387 0.00127
NM_001167.4(XIAP):c.*1904G>A rs751700391 0.00118
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.*2521A>G rs746553843 0.00046
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.*6010G>A rs764617684 0.00027
NM_001167.4(XIAP):c.*3544G>A rs747125911 0.00025
NM_001167.4(XIAP):c.*1705A>G rs766498412 0.00018
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_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.*860T>C rs1057515764 0.00003
NM_001167.4(XIAP):c.*4691G>A rs982138652 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.*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_002351.5(SH2D1A):c.*26A>T rs1240769541 0.00001
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.*4336T>G rs2053603008
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

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