ClinVar Miner

List of variants studied for X-linked lymphoproliferative syndrome

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 54
Download table as spreadsheet
HGVS dbSNP
GRCh37/hg19 Xq25(chrX:122970459-123034511)
NC_000023.10:g.(?_123019487)_(123026643_?)del
NC_000023.10:g.(?_123025068)_(123026643_?)del
NC_000023.10:g.(?_123480147)_(123505261_?)del
NC_000023.10:g.(?_123499591)_(123505261_?)del
NM_001167.3(XIAP):c.1021_1022del (p.Asn341fs) rs1556406033
NM_001167.3(XIAP):c.108del (p.Pro37fs) rs1556404455
NM_001167.3(XIAP):c.1268A>C (p.Gln423Pro) rs5956583
NM_001167.3(XIAP):c.171A>G (p.Glu57=) rs1556404487
NM_001167.3(XIAP):c.276T>C (p.Phe92=) rs45575532
NM_001167.3(XIAP):c.292del (p.Glu99fs) rs1556404534
NM_001167.3(XIAP):c.352G>T (p.Glu118Ter) rs104894764
NM_001167.3(XIAP):c.389_392del (p.Asp130fs) rs1556404575
NM_001167.3(XIAP):c.435G>T (p.Gln145His) rs759909620
NM_001167.3(XIAP):c.455C>G (p.Thr152Ser) rs150317928
NM_001167.3(XIAP):c.562G>A (p.Gly188Arg)
NM_001167.3(XIAP):c.566T>C (p.Leu189Pro) rs1569477871
NM_001167.3(XIAP):c.608G>A (p.Cys203Tyr) rs387907301
NM_001167.3(XIAP):c.651del (p.Trp217fs) rs1556404673
NM_001167.3(XIAP):c.664C>T (p.Arg222Ter) rs1556404684
NM_001167.3(XIAP):c.672dup (p.Pro225fs) rs1556404697
NM_001167.3(XIAP):c.683T>G (p.Phe228Cys)
NM_001167.3(XIAP):c.688G>A (p.Val230Ile) rs144884904
NM_001167.3(XIAP):c.712C>T (p.Arg238Ter)
NM_001167.3(XIAP):c.73G>C (p.Glu25Gln) rs781204574
NM_001167.3(XIAP):c.769C>G (p.Pro257Ala) rs138783302
NM_001167.3(XIAP):c.844G>A (p.Glu282Lys) rs777303823
NM_001167.3(XIAP):c.878-5C>T rs367801081
NM_001167.3(XIAP):c.955C>T (p.Gln319Ter)
NM_001167.3(XIAP):c.978-10_978-4del
NM_001167.3(XIAP):c.978-9A>G
NM_001204401.1(XIAP):c.1045_1047GAG[1] (p.Glu350del) rs199683465
NM_002351.4(SH2D1A):c.-10C>T
NM_002351.4(SH2D1A):c.116G>T (p.Gly39Val) rs1556619338
NM_002351.4(SH2D1A):c.137+5G>C rs587777612
NM_002351.4(SH2D1A):c.138-1G>T
NM_002351.4(SH2D1A):c.138-3C>G rs1556620697
NM_002351.4(SH2D1A):c.163C>T (p.Arg55Ter) rs111033623
NM_002351.4(SH2D1A):c.164G>T (p.Arg55Leu) rs111033630
NM_002351.4(SH2D1A):c.172C>T (p.Gln58Ter) rs111033628
NM_002351.4(SH2D1A):c.192G>A (p.Trp64Ter) rs1556620706
NM_002351.4(SH2D1A):c.203C>T (p.Thr68Ile) rs111033627
NM_002351.4(SH2D1A):c.20A>G (p.Tyr7Cys) rs1569527111
NM_002351.4(SH2D1A):c.302C>T (p.Pro101Leu) rs111033626
NM_002351.4(SH2D1A):c.385T>A (p.Ter129Arg) rs111033625
NM_002351.4(SH2D1A):c.385T>C (p.Ter129Arg) rs111033625
NM_002351.4(SH2D1A):c.3G>T (p.Met1Ile) rs111033629
NM_002351.4(SH2D1A):c.48C>A (p.Gly16=) rs72610640
NM_002351.4(SH2D1A):c.5A>G (p.Asp2Gly) rs1556619319
NM_002351.4(SH2D1A):c.95G>C (p.Arg32Thr) rs111033624
SH2D1A, 159-BP DEL
SH2D1A, 163C-T
SH2D1A, EX1DEL
XIAP, 2606-BP DEL

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.